ENSP00000001146	CYP26B1	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000003084	CFTR	DOID:0111862	Congenital bilateral absence of vas deferens	MedlinePlus	CURATED	5
ENSP00000003084	CFTR	DOID:1485	Cystic fibrosis	MedlinePlus	CURATED	5
ENSP00000005226	USH1C	DOID:0050439	Usher syndrome	MedlinePlus	CURATED	5
ENSP00000005226	USH1C	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000005226	USH1C	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000005226	USH1C	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000012443	PPP5C	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000012443	PPP5C	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000012443	PPP5C	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000013807	ERCC1	DOID:0050427	Xeroderma pigmentosum	MedlinePlus	CURATED	5
ENSP00000013807	ERCC1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000013807	ERCC1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000016171	COX15	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000016171	COX15	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000016171	COX15	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000020945	SNAI2	DOID:3263	Piebaldism	MedlinePlus	CURATED	5
ENSP00000020945	SNAI2	DOID:9258	Waardenburg syndrome	MedlinePlus	CURATED	5
ENSP00000020945	SNAI2	DOID:9258	Waardenburg syndrome	UniProtKB-KW	CURATED	4
ENSP00000023064	SLC7A9	DOID:9266	Cystinuria	MedlinePlus	CURATED	5
ENSP00000023064	SLC7A9	DOID:9266	Cystinuria	UniProtKB-KW	CURATED	4
ENSP00000026218	PIGQ	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000029410	B4GALT7	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000029410	B4GALT7	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000037502	MYOC	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000039007	OTC	DOID:9271	Ornithine carbamoyltransferase deficiency	MedlinePlus	CURATED	5
ENSP00000043402	RTN4R	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000052754	DCN	DOID:0060445	Congenital stromal corneal dystrophy	MedlinePlus	CURATED	5
ENSP00000053243	TNFRSF17	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000053469	GUCA1A	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000053469	GUCA1A	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000053867	GRN	DOID:0110732	Neuronal ceroid lipofuscinosis 11	MedlinePlus	CURATED	5
ENSP00000053867	GRN	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000053867	GRN	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000053867	GRN	DOID:9255	Frontotemporal dementia	MedlinePlus	CURATED	5
ENSP00000055077	RFC2	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000056217	ARHGEF5	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000061240	TLL1	DOID:1882	Atrial heart septal defect	UniProtKB-KW	CURATED	4
ENSP00000064724	CLDN11	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000064780	RELT	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000070846	PKP2	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000070846	PKP2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000075503	STYK1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000078429	GNA11	DOID:0090109	Autosomal dominant hypocalcemia	MedlinePlus	CURATED	5
ENSP00000155840	KCNQ1	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000155840	KCNQ1	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000155840	KCNQ1	DOID:0050793	Short QT syndrome	MedlinePlus	CURATED	5
ENSP00000155840	KCNQ1	DOID:11714	Gestational diabetes	MedlinePlus	CURATED	5
ENSP00000155840	KCNQ1	DOID:2842	Jervell-Lange Nielsen syndrome	MedlinePlus	CURATED	5
ENSP00000155840	KCNQ1	DOID:2843	Long QT syndrome	MedlinePlus	CURATED	5
ENSP00000155840	KCNQ1	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000155840	KCNQ1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000160382	ACTL6B	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000162749	TNFRSF1A	DOID:0090018	Autosomal dominant familial periodic fever	MedlinePlus	CURATED	5
ENSP00000162749	TNFRSF1A	DOID:2377	Multiple sclerosis	MedlinePlus	CURATED	5
ENSP00000162749	TNFRSF1A	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000164139	PYGM	DOID:2746	Glycogen storage disease V	MedlinePlus	CURATED	5
ENSP00000164139	PYGM	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000164227	BCL3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000164305	PIGB	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000166139	FSTL3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000166345	TRIP13	DOID:0080688	Mosaic variegated aneuploidy syndrome	MedlinePlus	CURATED	5
ENSP00000167586	KRT14	DOID:0050430	Multiple endocrine neoplasia type 2A	AmyCo	CURATED	2
ENSP00000167586	KRT14	DOID:0050639	Primary cutaneous amyloidosis	AmyCo	CURATED	4
ENSP00000167586	KRT14	DOID:0111342	Dermatopathia pigmentosa reticularis	MedlinePlus	CURATED	5
ENSP00000167586	KRT14	DOID:2513	Basal cell carcinoma	AmyCo	CURATED	4
ENSP00000167586	KRT14	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000167586	KRT14	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000167586	KRT14	DOID:4644	Epidermolysis bullosa simplex	MedlinePlus	CURATED	5
ENSP00000167586	KRT14	DOID:6498	Seborrheic keratosis	AmyCo	CURATED	4
ENSP00000167586	KRT14	DOID:7039	Borst-Jadassohn intraepidermal carcinoma	AmyCo	CURATED	3
ENSP00000167586	KRT14	DOID:8691	Mycosis fungoides	AmyCo	CURATED	3
ENSP00000168216	HSD17B10	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000168712	FGF4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000173229	NTN1	DOID:0111153	Congenital mirror movement disorder	MedlinePlus	CURATED	5
ENSP00000176183	DRD4	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000177694	TBX21	DOID:2841	Asthma	UniProtKB-KW	CURATED	4
ENSP00000178638	CA12	DOID:0111371	Isolated hyperchlorhidrosis	MedlinePlus	CURATED	5
ENSP00000178640	MAP2K5	DOID:0050425	Restless legs syndrome	MedlinePlus	CURATED	5
ENSP00000185206	CLIC5	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000185206	CLIC5	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000193322	OSTM1	DOID:13533	Osteopetrosis	MedlinePlus	CURATED	5
ENSP00000193322	OSTM1	DOID:13533	Osteopetrosis	UniProtKB-KW	CURATED	4
ENSP00000193391	IMPG2	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000193391	IMPG2	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000196061	PLOD1	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000196061	PLOD1	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000199280	AQP2	DOID:12387	Nephrogenic diabetes insipidus	MedlinePlus	CURATED	5
ENSP00000199280	AQP2	DOID:9409	Diabetes insipidus	UniProtKB-KW	CURATED	4
ENSP00000199447	NME8	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000199447	NME8	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000199764	CEACAM6	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000200181	ITGB4	DOID:0060733	Junctional epidermolysis bullosa with pyloric atresia	MedlinePlus	CURATED	5
ENSP00000200181	ITGB4	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000200181	ITGB4	DOID:3209	Junctional epidermolysis bullosa	MedlinePlus	CURATED	5
ENSP00000200652	SLC22A4	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000200676	CETP	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000200676	CETP	DOID:1936	Atherosclerosis	UniProtKB-KW	CURATED	4
ENSP00000202625	TGM6	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000202625	TGM6	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000202967	SIRT4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000203407	UQCRC1	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000203407	UQCRC1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000204566	SPG21	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000204566	SPG21	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000204679	GNPTG	DOID:0080678	Mucolipidosis III gamma	MedlinePlus	CURATED	5
ENSP00000204679	GNPTG	DOID:3343	Glycoproteinosis	UniProtKB-KW	CURATED	4
ENSP00000204961	EFNB1	DOID:14737	Craniofrontonasal syndrome	MedlinePlus	CURATED	5
ENSP00000204961	EFNB1	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000205143	DLL3	DOID:0050568	Spondylocostal dysostosis	MedlinePlus	CURATED	5
ENSP00000205402	DLD	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000205402	DLD	DOID:9269	Maple syrup urine disease	MedlinePlus	CURATED	5
ENSP00000205557	ABCC6	DOID:0050644	Arterial calcification of infancy	MedlinePlus	CURATED	5
ENSP00000205557	ABCC6	DOID:2738	Pseudoxanthoma elasticum	MedlinePlus	CURATED	5
ENSP00000206542	OSGEP	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000206765	TGM1	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000207549	UNC13D	DOID:0050120	Hemophagocytic lymphohistiocytosis	UniProtKB-KW	CURATED	4
ENSP00000209728	CDC6	DOID:0060306	Meier-Gorlin syndrome	MedlinePlus	CURATED	5
ENSP00000209873	AAAS	DOID:0050602	triple-A syndrome	MedlinePlus	CURATED	5
ENSP00000211998	VCL	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000211998	VCL	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000211998	VCL	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000215095	STX1B	DOID:0060170	Generalized epilepsy with febrile seizures plus	MedlinePlus	CURATED	5
ENSP00000215095	STX1B	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000215730	SNAP29	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000215730	SNAP29	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000215754	MIF	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000215754	MIF	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000215838	TCN2	DOID:0050818	Transcobalamin II deficiency	MedlinePlus	CURATED	5
ENSP00000215855	CRYBB3	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000215882	SLC25A1	DOID:0050573	2-hydroxyglutaric aciduria	MedlinePlus	CURATED	5
ENSP00000215882	SLC25A1	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000216037	XBP1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000216124	ARSA	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000216124	ARSA	DOID:10581	Metachromatic leukodystrophy	MedlinePlus	CURATED	5
ENSP00000216124	ARSA	DOID:10581	Metachromatic leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000216180	PNPLA3	DOID:0080208	Metabolic dysfunction-associated steatotic liver disease	MedlinePlus	CURATED	5
ENSP00000216180	PNPLA3	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000216181	MYH9	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000216181	MYH9	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000216181	MYH9	DOID:0060651	MYH-9 related disease	MedlinePlus	CURATED	5
ENSP00000216181	MYH9	DOID:10983	Alport syndrome	UniProtKB-KW	CURATED	4
ENSP00000216181	MYH9	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000216185	TXN2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000216223	IL2RB	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000216254	ACO2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000216361	COCH	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000216361	COCH	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000216366	AP4S1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000216366	AP4S1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000216373	SOS2	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000216392	PYGL	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000216392	PYGL	DOID:2754	Glycogen storage disease VI	MedlinePlus	CURATED	5
ENSP00000216452	PIGH	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000216484	SPTLC2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000216484	SPTLC2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000216639	VRK1	DOID:0060264	Pontocerebellar hypoplasia	MedlinePlus	CURATED	5
ENSP00000216639	VRK1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000216639	VRK1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000216727	PABPN1	DOID:11719	Oculopharyngeal muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000216797	NFKBIA	DOID:0081077	Ectodermal dysplasia and immune deficiency	MedlinePlus	CURATED	5
ENSP00000216832	PNN	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000216911	AURKA	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000217086	SALL4	DOID:0060747	Duane-radial ray syndrome	MedlinePlus	CURATED	5
ENSP00000217086	SALL4	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000217086	SALL4	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000217086	SALL4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000217182	EEF1A2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000217260	RSPO4	DOID:0080082	Nonsyndromic congenital nail disorder 4	MedlinePlus	CURATED	5
ENSP00000217270	PROKR2	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000217270	PROKR2	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000217270	PROKR2	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000217270	PROKR2	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000217289	FERMT1	DOID:0060472	Kindler syndrome	MedlinePlus	CURATED	5
ENSP00000217381	SNTA1	DOID:2843	Long QT syndrome	MedlinePlus	CURATED	5
ENSP00000217381	SNTA1	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000217402	CHMP4B	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000217420	SLC32A1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000217426	AHCY	DOID:0050544	Hypermethioninemia	MedlinePlus	CURATED	5
ENSP00000217446	PIGU	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000217446	PIGU	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000218089	STAG2	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000218089	STAG2	DOID:4621	Holoprosencephaly	UniProtKB-KW	CURATED	4
ENSP00000218099	F9	DOID:0080666	Warfarin sensitivity	MedlinePlus	CURATED	5
ENSP00000218099	F9	DOID:2452	Thrombophilia	UniProtKB-KW	CURATED	4
ENSP00000218104	ABCD1	DOID:10588	Adrenoleukodystrophy	MedlinePlus	CURATED	5
ENSP00000218340	RP2	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000218340	RP2	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000218516	GLA	DOID:14499	Fabry disease	MedlinePlus	CURATED	5
ENSP00000218867	SGCG	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000218867	SGCG	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000219070	MMP2	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000219097	ORC6	DOID:0060306	Meier-Gorlin syndrome	MedlinePlus	CURATED	5
ENSP00000219240	DHODH	DOID:0111259	Postaxial acrofacial dysostosis	MedlinePlus	CURATED	5
ENSP00000219281	USB1	DOID:0060551	Poikiloderma with neutropenia	MedlinePlus	CURATED	5
ENSP00000219368	FA2H	DOID:0110786	Hereditary spastic paraplegia 35	MedlinePlus	CURATED	5
ENSP00000219368	FA2H	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000219368	FA2H	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000219368	FA2H	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000219476	TSC2	DOID:13515	Tuberous sclerosis	MedlinePlus	CURATED	5
ENSP00000219476	TSC2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000219476	TSC2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000219476	TSC2	DOID:3319	Lymphangioleiomyomatosis	MedlinePlus	CURATED	5
ENSP00000219548	STUB1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000219548	STUB1	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000219596	MEFV	DOID:2987	Familial Mediterranean fever	MedlinePlus	CURATED	5
ENSP00000219596	MEFV	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000219599	CRYM	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000219599	CRYM	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000219611	CAPN15	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000219746	TOX3	DOID:0050425	Restless legs syndrome	MedlinePlus	CURATED	5
ENSP00000219746	TOX3	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000219746	TOX3	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000219905	MGA	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000220058	MTFMT	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000220058	MTFMT	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000220420	TGM5	DOID:0070521	Peeling skin syndrome 2	MedlinePlus	CURATED	5
ENSP00000220616	TG	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000220616	TG	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000220616	TG	DOID:12361	Graves' disease	MedlinePlus	CURATED	5
ENSP00000220616	TG	DOID:7188	Autoimmune thyroiditis	MedlinePlus	CURATED	5
ENSP00000220676	RP1	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000220676	RP1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000220822	GDAP1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000220822	GDAP1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000220822	GDAP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000220822	GDAP1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000221130	GSR	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000221132	TNFRSF10A	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000221265	PAF1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000221486	RNASEH2A	DOID:0050629	Aicardi-Goutieres syndrome	MedlinePlus	CURATED	5
ENSP00000221486	RNASEH2A	DOID:0050629	Aicardi-Goutieres syndrome	UniProtKB-KW	CURATED	4
ENSP00000221496	AMH	DOID:3765	Pseudohermaphroditism	UniProtKB-KW	CURATED	4
ENSP00000221515	RETN	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000221515	RETN	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000221700	CYP4F2	DOID:0080665	Warfarin resistance	MedlinePlus	CURATED	5
ENSP00000221700	CYP4F2	DOID:0080666	Warfarin sensitivity	MedlinePlus	CURATED	5
ENSP00000221891	APLP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000221930	TGFB1	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000221930	TGFB1	DOID:4997	Camurati-Engelmann disease	MedlinePlus	CURATED	5
ENSP00000221973	LIM2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000221992	CEACAM5	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000221996	CRX	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000221996	CRX	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000221996	CRX	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000221996	CRX	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000221996	CRX	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000221996	CRX	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000222139	EPOR	DOID:10780	Primary polycythemia	MedlinePlus	CURATED	5
ENSP00000222139	EPOR	DOID:10780	Primary polycythemia	UniProtKB-KW	CURATED	4
ENSP00000222248	SLC5A5	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000222248	SLC5A5	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000222271	COMP	DOID:0080047	Pseudoachondroplasia	MedlinePlus	CURATED	5
ENSP00000222271	COMP	DOID:12721	Multiple epiphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000222329	ERF	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000222330	GSK3A	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000222330	GSK3A	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000222345	SIPA1L3	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000222390	HGF	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000222390	HGF	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000222390	HGF	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000222399	LAMB1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000222547	BET1	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000222725	LFNG	DOID:0050568	Spondylocostal dysostosis	MedlinePlus	CURATED	5
ENSP00000222747	TSPAN12	DOID:0050535	Exudative vitreoretinopathy	MedlinePlus	CURATED	5
ENSP00000222800	ABHD11	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000222803	FKBP14	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000222803	FKBP14	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000222812	STX1A	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000223029	AIMP2	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000223073	RBM28	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000223208	CEP41	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000223357	AEBP1	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000223357	AEBP1	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000223366	GCK	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000223366	GCK	DOID:0060639	Permanent neonatal diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000223366	GCK	DOID:11714	Gestational diabetes	MedlinePlus	CURATED	5
ENSP00000223366	GCK	DOID:13317	Hyperinsulinemic hypoglycemia	MedlinePlus	CURATED	5
ENSP00000223366	GCK	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000223398	CLIP2	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000223528	FKTN	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000223528	FKTN	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000223528	FKTN	DOID:0050559	Fukuyama congenital muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000223528	FKTN	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000223528	FKTN	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000223528	FKTN	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000223528	FKTN	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000223836	AK1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000224140	SETX	DOID:0050755	Spinocerebellar ataxia with axonal neuropathy 2	MedlinePlus	CURATED	5
ENSP00000224140	SETX	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000224140	SETX	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000224140	SETX	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000224140	SETX	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000224721	CDH23	DOID:0050439	Usher syndrome	MedlinePlus	CURATED	5
ENSP00000224721	CDH23	DOID:0050439	Usher syndrome	UniProtKB-KW	CURATED	4
ENSP00000224721	CDH23	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000224721	CDH23	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000224721	CDH23	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000224784	ACTA2	DOID:0050637	Finnish type amyloidosis	AmyCo	CURATED	4
ENSP00000224784	ACTA2	DOID:14004	Thoracic aortic aneurysm	MedlinePlus	CURATED	5
ENSP00000224784	ACTA2	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000224950	STN1	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000225387	CRYBA1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000225512	WNT3	DOID:0112191	Tetraamelia syndrome	MedlinePlus	CURATED	5
ENSP00000225512	WNT3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000225609	PIGL	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000225614	GALK1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000225614	GALK1	DOID:9870	Galactosemia	MedlinePlus	CURATED	5
ENSP00000225655	PFN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000225655	PFN1	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000225655	PFN1	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000225831	CCL2	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000225927	NAGLU	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000225927	NAGLU	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000225927	NAGLU	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000225927	NAGLU	DOID:12801	Mucopolysaccharidosis III	MedlinePlus	CURATED	5
ENSP00000225927	NAGLU	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000225927	NAGLU	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000225964	COL1A1	DOID:12169	Carpal tunnel syndrome	MedlinePlus	CURATED	5
ENSP00000225964	COL1A1	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000225964	COL1A1	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000225964	COL1A1	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000225964	COL1A1	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000225964	COL1A1	DOID:3507	Dermatofibrosarcoma protuberans	MedlinePlus	CURATED	5
ENSP00000225964	COL1A1	DOID:4257	Caffey disease	MedlinePlus	CURATED	5
ENSP00000225964	COL1A1	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000226067	HLF	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000226105	RANGRF	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000226247	FOXN1	DOID:0060769	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	MedlinePlus	CURATED	5
ENSP00000226247	FOXN1	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000226279	CD38	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000226382	PHOX2B	DOID:0060731	Congenital central hypoventilation syndrome	MedlinePlus	CURATED	5
ENSP00000226382	PHOX2B	DOID:769	Neuroblastoma	MedlinePlus	CURATED	5
ENSP00000226413	GNRHR	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000226574	NFKB1	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000226730	IL2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000226730	IL2	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000226760	WFS1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000226760	WFS1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000226760	WFS1	DOID:10632	Wolfram syndrome	MedlinePlus	CURATED	5
ENSP00000226760	WFS1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000226760	WFS1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000226760	WFS1	DOID:9409	Diabetes insipidus	UniProtKB-KW	CURATED	4
ENSP00000227155	CD82	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000227163	SPI1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000227266	CTSC	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000227322	ZPR1	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000227507	CCND1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000227507	CCND1	DOID:9538	Multiple myeloma	MedlinePlus	CURATED	5
ENSP00000227667	APOC3	AmyCo:26	Apolipoprotein C-III associated Amyloidosis	AmyCo	CURATED	4
ENSP00000227667	APOC3	DOID:0080208	Metabolic dysfunction-associated steatotic liver disease	MedlinePlus	CURATED	5
ENSP00000227752	IL10RA	DOID:8577	Ulcerative colitis	MedlinePlus	CURATED	5
ENSP00000227868	PDHX	DOID:3649	Pyruvate decarboxylase deficiency	MedlinePlus	CURATED	5
ENSP00000227868	PDHX	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000228347	POLR3B	DOID:0060794	Hypomyelinating leukodystrophy 7	MedlinePlus	CURATED	5
ENSP00000228347	POLR3B	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000228347	POLR3B	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000228347	POLR3B	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000228347	POLR3B	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000228476	DAO	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000228476	DAO	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000228510	MVK	DOID:0050452	Mevalonic aciduria	MedlinePlus	CURATED	5
ENSP00000228510	MVK	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000228606	CYP27B1	DOID:0080883	Vitamin D-dependent rickets	MedlinePlus	CURATED	5
ENSP00000228606	CYP27B1	DOID:1024	Leprosy	MedlinePlus	CURATED	5
ENSP00000228606	CYP27B1	DOID:2377	Multiple sclerosis	MedlinePlus	CURATED	5
ENSP00000228606	CYP27B1	DOID:585	Nephrolithiasis	MedlinePlus	CURATED	5
ENSP00000228606	CYP27B1	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000228606	CYP27B1	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000228682	GLI1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000228837	FGF6	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000228841	MYL2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000228841	MYL2	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000228841	MYL2	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000228872	CDKN1B	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000228872	CDKN1B	DOID:3125	Multiple endocrine neoplasia	MedlinePlus	CURATED	5
ENSP00000229135	IFNG	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000229179	NUP107	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000229214	KRR1	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000229264	GNB3	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000229270	TPI1	DOID:0050884	Triosephosphate isomerase deficiency	MedlinePlus	CURATED	5
ENSP00000229270	TPI1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000229281	C12orf57	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000229281	C12orf57	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000229379	COX6A1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000229379	COX6A1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000229379	COX6A1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000229379	COX6A1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000229447	IYD	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000229447	IYD	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000229554	RSPH4A	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000229554	RSPH4A	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000229729	SLC44A4	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000229769	FANCE	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000229769	FANCE	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000229771	TULP1	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000229771	TULP1	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000229771	TULP1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000229771	TULP1	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000229771	TULP1	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000229922	CAP2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000230085	SNX3	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000230124	FIG4	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000230124	FIG4	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000230124	FIG4	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000230124	FIG4	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000230124	FIG4	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000230124	FIG4	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000230354	TBP	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000230354	TBP	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000230361	GUCA1B	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000230361	GUCA1B	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000230381	PRPH2	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000230381	PRPH2	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000230381	PRPH2	DOID:0050661	Vitelliform macular dystrophy	MedlinePlus	CURATED	5
ENSP00000230381	PRPH2	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000230381	PRPH2	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000230381	PRPH2	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000230449	EXOC2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000230538	LAMA4	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000230538	LAMA4	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000231004	LOX	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000231004	LOX	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000231061	SPARC	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000231061	SPARC	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000231198	THG1L	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000231228	IL12B	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000231228	IL12B	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000231228	IL12B	DOID:9008	Psoriatic arthritis	MedlinePlus	CURATED	5
ENSP00000231449	IL4	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000231484	PCDH12	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000231484	PCDH12	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000231498	NUP155	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000231498	NUP155	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000231509	NR3C1	DOID:3765	Pseudohermaphroditism	UniProtKB-KW	CURATED	4
ENSP00000231572	RARS1	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000231706	SLC7A14	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000231749	ZMYND10	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000231749	ZMYND10	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000231751	LTF	DOID:0060449	Gelatinous drop-like corneal dystrophy	AmyCo	CURATED	4
ENSP00000231790	MLH1	DOID:0112182	Mismatch repair cancer syndrome	MedlinePlus	CURATED	5
ENSP00000231790	MLH1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000231790	MLH1	DOID:3883	Lynch syndrome	MedlinePlus	CURATED	5
ENSP00000231790	MLH1	DOID:3883	Lynch syndrome	UniProtKB-KW	CURATED	4
ENSP00000232003	HRG	DOID:2452	Thrombophilia	UniProtKB-KW	CURATED	4
ENSP00000232461	GNAT1	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000232501	NPRL2	DOID:0060681	Autosomal dominant nocturnal frontal lobe epilepsy	MedlinePlus	CURATED	5
ENSP00000232501	NPRL2	DOID:0081420	Familial focal epilepsy with variable foci	MedlinePlus	CURATED	5
ENSP00000232501	NPRL2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000232501	NPRL2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000232564	GNB4	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000232564	GNB4	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000232564	GNB4	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000232564	GNB4	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000232892	AADAC	DOID:0060464	Feingold syndrome	MedlinePlus	CURATED	5
ENSP00000232892	AADAC	DOID:11665	Patau syndrome	MedlinePlus	CURATED	5
ENSP00000232892	AADAC	DOID:768	Retinoblastoma	MedlinePlus	CURATED	5
ENSP00000232975	TNNC1	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000232975	TNNC1	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000233057	EIF2AK2	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000233146	MSH2	DOID:0112182	Mismatch repair cancer syndrome	MedlinePlus	CURATED	5
ENSP00000233146	MSH2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000233146	MSH2	DOID:3883	Lynch syndrome	MedlinePlus	CURATED	5
ENSP00000233146	MSH2	DOID:3883	Lynch syndrome	UniProtKB-KW	CURATED	4
ENSP00000233202	SLC11A1	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000233242	APOB	DOID:13810	Familial hypercholesterolemia	MedlinePlus	CURATED	5
ENSP00000233242	APOB	DOID:1386	Abetalipoproteinemia	MedlinePlus	CURATED	5
ENSP00000233242	APOB	DOID:1936	Atherosclerosis	UniProtKB-KW	CURATED	4
ENSP00000233596	REEP6	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000233627	NDUFS7	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000233627	NDUFS7	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000233627	NDUFS7	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000233826	KCNJ13	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000233826	KCNJ13	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000233826	KCNJ13	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000233838	GGCX	DOID:0080666	Warfarin sensitivity	MedlinePlus	CURATED	5
ENSP00000234071	PROC	DOID:2452	Thrombophilia	UniProtKB-KW	CURATED	4
ENSP00000234071	PROC	DOID:3756	Protein C deficiency	MedlinePlus	CURATED	5
ENSP00000234111	ODC1	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000234256	SLC1A4	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000234371	KISS1R	DOID:0112308	Central precocious puberty	MedlinePlus	CURATED	5
ENSP00000234371	KISS1R	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000234420	MSH6	DOID:0112182	Mismatch repair cancer syndrome	MedlinePlus	CURATED	5
ENSP00000234420	MSH6	DOID:3883	Lynch syndrome	MedlinePlus	CURATED	5
ENSP00000234420	MSH6	DOID:3883	Lynch syndrome	UniProtKB-KW	CURATED	4
ENSP00000234454	SPR	DOID:0060963	dystonia, DOPA-responsive	MedlinePlus	CURATED	5
ENSP00000234454	SPR	DOID:0111168	Sepiapterin reductase deficiency	MedlinePlus	CURATED	5
ENSP00000234454	SPR	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000234488	CLCN6	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000234488	CLCN6	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000234739	BCL9	DOID:0060411	Chromosome 1q21.1 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000234739	BCL9	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000234961	OPRD1	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000235310	MAD2L2	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000235310	MAD2L2	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000235521	WARS2	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000235521	WARS2	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000236040	P3H1	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000236040	P3H1	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000236137	SLC19A2	DOID:0090117	thiamine-responsive megaloblastic anemia syndrome	MedlinePlus	CURATED	5
ENSP00000236137	SLC19A2	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000236671	CTSD	DOID:0110725	Neuronal ceroid lipofuscinosis 10	MedlinePlus	CURATED	5
ENSP00000236671	CTSD	DOID:10652	Alzheimer's disease	AmyCo	CURATED	4
ENSP00000236671	CTSD	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000236671	CTSD	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000236671	CTSD	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000236850	APOA1	AmyCo:16	Localized insulin-derived Amyloidosis	AmyCo	CURATED	4
ENSP00000236850	APOA1	AmyCo:17	Apolipoprotein A-I associated Amyloidosis	AmyCo	CURATED	4
ENSP00000236850	APOA1	AmyCo:26	Apolipoprotein C-III associated Amyloidosis	AmyCo	CURATED	4
ENSP00000236850	APOA1	AmyCo:63	Enfuvirtide-induced Amyloidosis	AmyCo	CURATED	4
ENSP00000236850	APOA1	DOID:0080957	Primary hypoalphalipoproteinemia 1	MedlinePlus	CURATED	5
ENSP00000236850	APOA1	DOID:1936	Atherosclerosis	UniProtKB-KW	CURATED	4
ENSP00000236850	APOA1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000236850	APOA1	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000236959	ATIC	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000237014	TTR	AmyCo:17	Apolipoprotein A-I associated Amyloidosis	AmyCo	CURATED	4
ENSP00000237014	TTR	AmyCo:30	Wild-type transthyretin-related Amyloidosis	AmyCo	CURATED	4
ENSP00000237014	TTR	DOID:0050638	Transthyretin amyloidosis	AmyCo	CURATED	4
ENSP00000237014	TTR	DOID:0050638	Transthyretin amyloidosis	MedlinePlus	CURATED	5
ENSP00000237014	TTR	DOID:12169	Carpal tunnel syndrome	MedlinePlus	CURATED	5
ENSP00000237014	TTR	DOID:12894	Sjogren's syndrome	AmyCo	CURATED	3
ENSP00000237014	TTR	DOID:7148	Rheumatoid arthritis	AmyCo	CURATED	3
ENSP00000237014	TTR	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000237014	TTR	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000237596	PKD2	DOID:0080322	Polycystic kidney disease	MedlinePlus	CURATED	5
ENSP00000237837	FGF23	DOID:0050336	Hypophosphatemia	MedlinePlus	CURATED	5
ENSP00000237837	FGF23	DOID:0111063	Hyperphosphatemic familial tumoral calcinosis	MedlinePlus	CURATED	5
ENSP00000237837	FGF23	DOID:585	Nephrolithiasis	MedlinePlus	CURATED	5
ENSP00000238112	CPSF3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000238628	IFT43	DOID:0050577	Cranioectodermal dysplasia	MedlinePlus	CURATED	5
ENSP00000238647	IRF2BPL	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000238682	TGFB3	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000238682	TGFB3	DOID:0050466	Loeys-Dietz syndrome	MedlinePlus	CURATED	5
ENSP00000238682	TGFB3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000238892	CRIPT	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000239243	MSX2	DOID:0060285	Parietal foramina	MedlinePlus	CURATED	5
ENSP00000239243	MSX2	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000239926	MYOT	DOID:0080307	Myofibrillar myopathy	MedlinePlus	CURATED	5
ENSP00000239926	MYOT	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000239926	MYOT	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000239926	MYOT	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000240185	TARDBP	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000240185	TARDBP	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000240185	TARDBP	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000240423	NCAPH	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000240618	KLRK1	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000240651	PYROXD1	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000240651	PYROXD1	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000240652	IAPP	DOID:9352	Type 2 diabetes mellitus	AmyCo	CURATED	4
ENSP00000240851	TFG	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000240851	TFG	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000240851	TFG	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000240851	TFG	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000241014	MAPK8IP1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000241041	PEX16	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000241041	PEX16	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000241052	CAT	DOID:2582	Acatalasia	MedlinePlus	CURATED	5
ENSP00000241125	GJA3	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000241453	FLT3	DOID:0080796	Core binding factor acute myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000241453	FLT3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000242057	AHR	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000242067	BBS9	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000242067	BBS9	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000242067	BBS9	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000242261	TWIST1	DOID:14768	Saethre-Chotzen syndrome	MedlinePlus	CURATED	5
ENSP00000242261	TWIST1	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000242375	AKR1D1	DOID:0111069	Congenital bile acid synthesis defect 2	MedlinePlus	CURATED	5
ENSP00000242375	AKR1D1	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000242480	EGR2	DOID:0050540	Charcot-Marie-Tooth disease type 3	UniProtKB-KW	CURATED	4
ENSP00000242480	EGR2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000242480	EGR2	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000242480	EGR2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000242480	EGR2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000242592	ACADS	DOID:0080154	Short chain acyl-CoA dehydrogenase deficiency	MedlinePlus	CURATED	5
ENSP00000242839	ATP7B	DOID:893	Wilson disease	MedlinePlus	CURATED	5
ENSP00000243344	TTC21B	DOID:0050592	Asphyxiating thoracic dystrophy	MedlinePlus	CURATED	5
ENSP00000243344	TTC21B	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000243344	TTC21B	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000243344	TTC21B	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000243344	TTC21B	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000243457	KCNJ2	DOID:0050434	Andersen-Tawil syndrome	MedlinePlus	CURATED	5
ENSP00000243457	KCNJ2	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000243457	KCNJ2	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000243457	KCNJ2	DOID:0050793	Short QT syndrome	MedlinePlus	CURATED	5
ENSP00000243457	KCNJ2	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000243578	B9D2	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000243578	B9D2	DOID:0050778	Meckel syndrome	MedlinePlus	CURATED	5
ENSP00000244043	PTGIS	DOID:10763	Hypertension	MedlinePlus	CURATED	5
ENSP00000244137	PEPD	DOID:0111540	Prolidase deficiency	MedlinePlus	CURATED	5
ENSP00000244217	MCEE	DOID:14749	Methylmalonic acidemia	MedlinePlus	CURATED	5
ENSP00000244289	LIPE	DOID:0050440	Familial partial lipodystrophy	MedlinePlus	CURATED	5
ENSP00000244289	LIPE	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000244289	LIPE	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000244571	AARS2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000244571	AARS2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000244571	AARS2	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000244745	SOX4	DOID:1925	Coffin-Siris syndrome	MedlinePlus	CURATED	5
ENSP00000244769	ATXN1	DOID:0050954	Spinocerebellar ataxia type 1	MedlinePlus	CURATED	5
ENSP00000244769	ATXN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000244769	ATXN1	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000245121	KATNAL2	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000245157	BBS2	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000245157	BBS2	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000245157	BBS2	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000245157	BBS2	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000245206	GOT2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000245414	IRF1	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000245414	IRF1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000245451	BMP4	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000245451	BMP4	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000245451	BMP4	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000245451	BMP4	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000245451	BMP4	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000245479	SOX9	DOID:0050463	Campomelic dysplasia	MedlinePlus	CURATED	5
ENSP00000245479	SOX9	DOID:0111760	46,XX sex reversal	MedlinePlus	CURATED	5
ENSP00000245479	SOX9	DOID:14448	46,XY sex reversal	MedlinePlus	CURATED	5
ENSP00000245615	MBOAT7	DOID:0080208	Metabolic dysfunction-associated steatotic liver disease	MedlinePlus	CURATED	5
ENSP00000245816	CLPP	DOID:0050857	Perrault syndrome	MedlinePlus	CURATED	5
ENSP00000245907	C3	DOID:0050637	Finnish type amyloidosis	AmyCo	CURATED	4
ENSP00000245907	C3	DOID:0080301	Atypical hemolytic-uremic syndrome	MedlinePlus	CURATED	5
ENSP00000245907	C3	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000245907	C3	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000245907	C3	DOID:11949	Creutzfeldt-Jakob disease	AmyCo	CURATED	4
ENSP00000245907	C3	DOID:12554	hemolytic-uremic syndrome	UniProtKB-KW	CURATED	4
ENSP00000245923	RTN2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000245923	RTN2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000245923	RTN2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000246062	MKKS	DOID:0111255	McKusick-Kaufman syndrome	MedlinePlus	CURATED	5
ENSP00000246062	MKKS	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000246062	MKKS	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000246062	MKKS	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000246337	UROD	DOID:13268	Porphyria	MedlinePlus	CURATED	5
ENSP00000246515	SLURP1	DOID:0060862	Mal de Meleda	MedlinePlus	CURATED	5
ENSP00000246515	SLURP1	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000246635	KRT13	DOID:0050448	White sponge nevus	MedlinePlus	CURATED	5
ENSP00000246662	KRT9	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000246747	ARL2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000246792	RRAS	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000246868	SBDS	DOID:0060479	Shwachman-Diamond syndrome	MedlinePlus	CURATED	5
ENSP00000247005	GDF1	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000247026	NSRP1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000247270	EVI2A	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000247470	PYCARD	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000247933	IDUA	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000247933	IDUA	DOID:12802	Mucopolysaccharidosis I	MedlinePlus	CURATED	5
ENSP00000248114	GFER	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000248437	TUBA4A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000248437	TUBA4A	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000248437	TUBA4A	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000248553	HSPB1	DOID:0111206	Autosomal dominant distal hereditary motor neuronopathy 2	MedlinePlus	CURATED	5
ENSP00000248553	HSPB1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000248553	HSPB1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000248553	HSPB1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000248553	HSPB1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000248633	PEX1	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000248633	PEX1	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000248633	PEX1	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000249269	PMPCB	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000249284	TAS2R16	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000249389	OPN1SW	DOID:13399	Color blindness	MedlinePlus	CURATED	5
ENSP00000249396	SIRT2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000249749	DLL4	DOID:0060227	Adams-Oliver syndrome	MedlinePlus	CURATED	5
ENSP00000249750	ALDH1A2	DOID:8398	Osteoarthritis	MedlinePlus	CURATED	5
ENSP00000249806	CLN6	DOID:0110729	Neuronal ceroid lipofuscinosis 6A	MedlinePlus	CURATED	5
ENSP00000249806	CLN6	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000249806	CLN6	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000249923	COPB1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000250124	MPDU1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000250160	CCN4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000250615	AANAT	DOID:0060318	Acute promyelocytic leukemia	MedlinePlus	CURATED	5
ENSP00000250615	AANAT	DOID:0060394	Chromosome 15q13.3 microdeletion syndrome	MedlinePlus	CURATED	5
ENSP00000250615	AANAT	DOID:0060395	Chromosome 15q24 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000250615	AANAT	DOID:11983	Prader-Willi syndrome	MedlinePlus	CURATED	5
ENSP00000250615	AANAT	DOID:1932	Angelman syndrome	MedlinePlus	CURATED	5
ENSP00000251020	SALL1	DOID:0050887	Townes-Brocks syndrome	MedlinePlus	CURATED	5
ENSP00000251020	SALL1	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000251020	SALL1	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000251020	SALL1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000251102	CNGB1	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000251102	CNGB1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000251119	ZFYVE26	DOID:0110768	Hereditary spastic paraplegia 15	MedlinePlus	CURATED	5
ENSP00000251119	ZFYVE26	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000251119	ZFYVE26	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000251127	NALCN	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000251157	DOCK7	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000251268	MEGF8	DOID:0060234	Carpenter syndrome	MedlinePlus	CURATED	5
ENSP00000251268	MEGF8	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000251287	HCN2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000251337	GNAT2	DOID:13911	Achromatopsia	MedlinePlus	CURATED	5
ENSP00000251413	TUBG1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000251472	MAST1	DOID:0060426	Chromosome 19p13.13 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000251582	ADAMTS2	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000251582	ADAMTS2	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000251595	HBA2	DOID:1099	Alpha thalassemia	MedlinePlus	CURATED	5
ENSP00000251595	HBA2	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000251607	TRNT1	DOID:0080209	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	MedlinePlus	CURATED	5
ENSP00000251607	TRNT1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000251643	KRT12	DOID:0060451	Meesmann corneal dystrophy	MedlinePlus	CURATED	5
ENSP00000251810	RRM2B	DOID:0080123	Mitochondrial DNA depletion syndrome 4b	MedlinePlus	CURATED	5
ENSP00000251810	RRM2B	DOID:0080127	Mitochondrial DNA depletion syndrome 8a	MedlinePlus	CURATED	5
ENSP00000251810	RRM2B	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
ENSP00000251810	RRM2B	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000251810	RRM2B	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000252037	FKBP6	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000252102	NDUFA2	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000252102	NDUFA2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000252242	KRT5	DOID:0050430	Multiple endocrine neoplasia type 2A	AmyCo	CURATED	2
ENSP00000252242	KRT5	DOID:0050639	Primary cutaneous amyloidosis	AmyCo	CURATED	4
ENSP00000252242	KRT5	DOID:0060256	Dowling-Degos disease	MedlinePlus	CURATED	5
ENSP00000252242	KRT5	DOID:2513	Basal cell carcinoma	AmyCo	CURATED	4
ENSP00000252242	KRT5	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000252242	KRT5	DOID:4644	Epidermolysis bullosa simplex	MedlinePlus	CURATED	5
ENSP00000252242	KRT5	DOID:6498	Seborrheic keratosis	AmyCo	CURATED	4
ENSP00000252242	KRT5	DOID:7039	Borst-Jadassohn intraepidermal carcinoma	AmyCo	CURATED	3
ENSP00000252242	KRT5	DOID:8691	Mycosis fungoides	AmyCo	CURATED	3
ENSP00000252244	KRT1	DOID:0050430	Multiple endocrine neoplasia type 2A	AmyCo	CURATED	2
ENSP00000252244	KRT1	DOID:0050639	Primary cutaneous amyloidosis	AmyCo	CURATED	4
ENSP00000252244	KRT1	DOID:2513	Basal cell carcinoma	AmyCo	CURATED	4
ENSP00000252244	KRT1	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000252244	KRT1	DOID:4603	Epidermolytic hyperkeratosis	MedlinePlus	CURATED	5
ENSP00000252244	KRT1	DOID:6498	Seborrheic keratosis	AmyCo	CURATED	4
ENSP00000252244	KRT1	DOID:7039	Borst-Jadassohn intraepidermal carcinoma	AmyCo	CURATED	3
ENSP00000252244	KRT1	DOID:8691	Mycosis fungoides	AmyCo	CURATED	3
ENSP00000252250	KRT6C	DOID:0050449	Pachyonychia congenita	MedlinePlus	CURATED	5
ENSP00000252250	KRT6C	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000252252	KRT6B	DOID:0050449	Pachyonychia congenita	MedlinePlus	CURATED	5
ENSP00000252252	KRT6B	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000252268	DPF2	DOID:1925	Coffin-Siris syndrome	MedlinePlus	CURATED	5
ENSP00000252321	KCNA5	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000252321	KCNA5	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000252321	KCNA5	DOID:14557	Primary pulmonary hypertension	MedlinePlus	CURATED	5
ENSP00000252486	APOE	AmyCo:16	Localized insulin-derived Amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	AmyCo:22	Apolipoprotein A-II associated Amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	AmyCo:23	AH Amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	AmyCo:24	AHL Amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	AmyCo:25	Apolipoprotein C-II associated Amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	AmyCo:26	Apolipoprotein C-III associated Amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	AmyCo:27	Leukocyte chemotactic factor 2 Amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	AmyCo:28	Apolipoprotein A-IV associated Amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	AmyCo:29	AA Amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	AmyCo:33	Wild type beta-2-microglobulin-related Amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	AmyCo:63	Enfuvirtide-induced Amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	AmyCo:8	Immunoglobulin Light-chain Amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	DOID:0050637	Finnish type amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	DOID:0050639	Primary cutaneous amyloidosis	AmyCo	CURATED	4
ENSP00000252486	APOE	DOID:0060449	Gelatinous drop-like corneal dystrophy	AmyCo	CURATED	4
ENSP00000252486	APOE	DOID:0070028	APP-related cerebral amyloid angiopathy	AmyCo	CURATED	4
ENSP00000252486	APOE	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	AmyCo	CURATED	4
ENSP00000252486	APOE	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000252486	APOE	DOID:10652	Alzheimer's disease	AmyCo	CURATED	4
ENSP00000252486	APOE	DOID:10652	Alzheimer's disease	MedlinePlus	CURATED	5
ENSP00000252486	APOE	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000252486	APOE	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000252486	APOE	DOID:1168	Familial hyperlipidemia	UniProtKB-KW	CURATED	4
ENSP00000252486	APOE	DOID:11949	Creutzfeldt-Jakob disease	AmyCo	CURATED	4
ENSP00000252486	APOE	DOID:12217	Lewy body dementia	MedlinePlus	CURATED	5
ENSP00000252486	APOE	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000252486	APOE	DOID:14250	Down syndrome	AmyCo	CURATED	3
ENSP00000252486	APOE	DOID:3973	Thyroid gland medullary carcinoma	AmyCo	CURATED	4
ENSP00000252486	APOE	DOID:8943	Lattice corneal dystrophy	AmyCo	CURATED	4
ENSP00000252486	APOE	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000252486	APOE	DOID:9352	Type 2 diabetes mellitus	AmyCo	CURATED	4
ENSP00000252655	RSPH3	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000252655	RSPH3	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000252674	MLLT1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000252677	BMP15	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000252711	NDUFA10	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000252711	NDUFA10	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000252723	EPO	DOID:10780	Primary polycythemia	UniProtKB-KW	CURATED	4
ENSP00000252744	ZSWIM6	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000252804	PXDN	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000252826	TRPM4	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000252826	TRPM4	DOID:0111073	Progressive familial heart block	MedlinePlus	CURATED	5
ENSP00000252826	TRPM4	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000252934	ATXN10	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000252934	ATXN10	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000252951	HBZ	AmyCo:17	Apolipoprotein A-I associated Amyloidosis	AmyCo	CURATED	4
ENSP00000253008	PRDM12	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000253008	PRDM12	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000253039	EIF2S3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000253039	EIF2S3	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000253122	SLC6A8	DOID:0050800	Cerebral creatine deficiency syndrome 1	MedlinePlus	CURATED	5
ENSP00000253408	GFAP	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000253408	GFAP	DOID:4252	Alexander disease	MedlinePlus	CURATED	5
ENSP00000253413	ATP6V1E1	DOID:3144	Cutis laxa	MedlinePlus	CURATED	5
ENSP00000253496	F12	DOID:14735	Hereditary angioedema	MedlinePlus	CURATED	5
ENSP00000253577	ABCB7	DOID:0050554	X-linked sideroblastic anemia with ataxia	MedlinePlus	CURATED	5
ENSP00000253577	ABCB7	DOID:0060436	Chromosome 22q11.2 microduplication syndrome	MedlinePlus	CURATED	5
ENSP00000253577	ABCB7	DOID:0080354	Phelan-McDermid syndrome	MedlinePlus	CURATED	5
ENSP00000253577	ABCB7	DOID:0080697	Opitz GBBB syndrome	MedlinePlus	CURATED	5
ENSP00000253577	ABCB7	DOID:11198	DiGeorge syndrome	MedlinePlus	CURATED	5
ENSP00000253577	ABCB7	DOID:3369	Ewing sarcoma	MedlinePlus	CURATED	5
ENSP00000253577	ABCB7	DOID:3507	Dermatofibrosarcoma protuberans	MedlinePlus	CURATED	5
ENSP00000253577	ABCB7	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000253577	ABCB7	DOID:8552	Chronic myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000253801	G6PC	DOID:0081329	Glycogen storage disease I	MedlinePlus	CURATED	5
ENSP00000253801	G6PC	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000254066	RARA	DOID:0060318	Acute promyelocytic leukemia	MedlinePlus	CURATED	5
ENSP00000254066	RARA	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000254090	FMO5	DOID:0060411	Chromosome 1q21.1 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000254101	PRKAB2	DOID:0060411	Chromosome 1q21.1 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000254108	FUS	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000254108	FUS	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000254108	FUS	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000254108	FUS	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000254108	FUS	DOID:3369	Ewing sarcoma	MedlinePlus	CURATED	5
ENSP00000254227	NR0B2	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000254250	THAP1	DOID:0090039	Torsion dystonia 6	MedlinePlus	CURATED	5
ENSP00000254250	THAP1	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000254657	PER2	DOID:0060167	Seasonal affective disorder	MedlinePlus	CURATED	5
ENSP00000254722	SERPINF1	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000254722	SERPINF1	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000254730	EEFSEC	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000254765	POPDC3	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000254854	GUCY2D	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000254854	GUCY2D	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000254854	GUCY2D	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000254854	GUCY2D	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000254854	GUCY2D	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000254950	VPS4A	DOID:1338	Congenital dyserythropoietic anemia	UniProtKB-KW	CURATED	4
ENSP00000254950	VPS4A	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000254950	VPS4A	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000254958	JAG1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000254958	JAG1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000254958	JAG1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000254958	JAG1	DOID:9245	Alagille syndrome	MedlinePlus	CURATED	5
ENSP00000254976	SNAP25	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000255030	CRP	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000255040	APCS	AmyCo:16	Localized insulin-derived Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:17	Apolipoprotein A-I associated Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:22	Apolipoprotein A-II associated Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:23	AH Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:24	AHL Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:25	Apolipoprotein C-II associated Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:26	Apolipoprotein C-III associated Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:27	Leukocyte chemotactic factor 2 Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:28	Apolipoprotein A-IV associated Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:29	AA Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:33	Wild type beta-2-microglobulin-related Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:63	Enfuvirtide-induced Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:67	PrP Systemic Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	AmyCo:8	Immunoglobulin Light-chain Amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	DOID:0050637	Finnish type amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	DOID:0050639	Primary cutaneous amyloidosis	AmyCo	CURATED	4
ENSP00000255040	APCS	DOID:0070027	CST3-related cerebral amyloid angiopathy	AmyCo	CURATED	4
ENSP00000255040	APCS	DOID:0070028	APP-related cerebral amyloid angiopathy	AmyCo	CURATED	4
ENSP00000255040	APCS	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	AmyCo	CURATED	4
ENSP00000255040	APCS	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000255040	APCS	DOID:0110699	Hypotrichosis 2	AmyCo	CURATED	4
ENSP00000255040	APCS	DOID:10652	Alzheimer's disease	AmyCo	CURATED	4
ENSP00000255040	APCS	DOID:11949	Creutzfeldt-Jakob disease	AmyCo	CURATED	4
ENSP00000255040	APCS	DOID:3973	Thyroid gland medullary carcinoma	AmyCo	CURATED	4
ENSP00000255040	APCS	DOID:9352	Type 2 diabetes mellitus	AmyCo	CURATED	4
ENSP00000255078	IGHMBP2	DOID:0111064	Autosomal recessive distal hereditary motor neuronopathy 1	MedlinePlus	CURATED	5
ENSP00000255078	IGHMBP2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000255078	IGHMBP2	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000255078	IGHMBP2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000255078	IGHMBP2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000255108	DPH2	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000255194	AP3B1	DOID:3753	Hermansky-Pudlak syndrome	MedlinePlus	CURATED	5
ENSP00000255194	AP3B1	DOID:3753	Hermansky-Pudlak syndrome	UniProtKB-KW	CURATED	4
ENSP00000255266	PDE6A	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000255266	PDE6A	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000255390	SCO1	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000255409	CHI3L1	DOID:2841	Asthma	UniProtKB-KW	CURATED	4
ENSP00000255476	RFXAP	DOID:5812	MHC class II deficiency	MedlinePlus	CURATED	5
ENSP00000255476	RFXAP	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000255784	CCDC134	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000255882	PI4KA	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000255882	PI4KA	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000256015	BTG1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000256078	KRAS	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000256078	KRAS	DOID:0060233	Cardiofaciocutaneous syndrome	MedlinePlus	CURATED	5
ENSP00000256078	KRAS	DOID:0080796	Core binding factor acute myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000256078	KRAS	DOID:0111162	Epidermal nevus	MedlinePlus	CURATED	5
ENSP00000256078	KRAS	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000256078	KRAS	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000256078	KRAS	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000256078	KRAS	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000256078	KRAS	DOID:6688	Autoimmune lymphoproliferative syndrome	MedlinePlus	CURATED	5
ENSP00000256079	IPO8	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000256103	PMP2	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000256103	PMP2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000256103	PMP2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000256190	SBF2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000256190	SBF2	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000256190	SBF2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000256190	SBF2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000256196	RRAS2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000256398	ELP3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000256398	ELP3	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000256433	IER3IP1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000256433	IER3IP1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000256474	VHL	DOID:0050773	Paraganglioma	MedlinePlus	CURATED	5
ENSP00000256474	VHL	DOID:10780	Primary polycythemia	MedlinePlus	CURATED	5
ENSP00000256474	VHL	DOID:10780	Primary polycythemia	UniProtKB-KW	CURATED	4
ENSP00000256474	VHL	DOID:14175	Von Hippel-Lindau disease	MedlinePlus	CURATED	5
ENSP00000256474	VHL	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000256592	TSHB	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000256592	TSHB	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000256646	NOTCH2	DOID:2736	Hajdu-Cheney syndrome	MedlinePlus	CURATED	5
ENSP00000256646	NOTCH2	DOID:9245	Alagille syndrome	MedlinePlus	CURATED	5
ENSP00000256707	KIDINS220	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000256707	KIDINS220	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000256707	KIDINS220	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000256737	ANO3	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000256785	CFHR5	DOID:0080301	Atypical hemolytic-uremic syndrome	MedlinePlus	CURATED	5
ENSP00000256785	CFHR5	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000256785	CFHR5	DOID:12554	hemolytic-uremic syndrome	UniProtKB-KW	CURATED	4
ENSP00000256854	NARS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000256854	NARS1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000256996	DDB2	DOID:0050427	Xeroderma pigmentosum	MedlinePlus	CURATED	5
ENSP00000257068	MTNR1B	DOID:11714	Gestational diabetes	MedlinePlus	CURATED	5
ENSP00000257192	DSG1	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000257192	DSG1	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000257215	DAGLA	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000257215	DAGLA	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000257287	CEP135	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000257290	PDGFRA	DOID:0080165	Myeloid and lymphoid neoplasms associated with PDGFRA rearrangement	MedlinePlus	CURATED	5
ENSP00000257290	PDGFRA	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000257290	PDGFRA	DOID:9253	Gastrointestinal stromal tumor	MedlinePlus	CURATED	5
ENSP00000257430	APC	DOID:0050424	Familial adenomatous polyposis	MedlinePlus	CURATED	5
ENSP00000257430	APC	DOID:0080366	Desmoid tumor	MedlinePlus	CURATED	5
ENSP00000257430	APC	DOID:0111622	ACTH-independent macronodular adrenal hyperplasia	MedlinePlus	CURATED	5
ENSP00000257430	APC	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000257776	MRAP2	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000257818	LMO2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000257829	NAT10	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000257860	PRPH	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000257860	PRPH	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000257860	PRPH	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000257863	AMHR2	DOID:3765	Pseudohermaphroditism	UniProtKB-KW	CURATED	4
ENSP00000257867	LACRT	AmyCo:17	Apolipoprotein A-I associated Amyloidosis	AmyCo	CURATED	4
ENSP00000257895	RDH5	DOID:11105	Fundus albipunctatus	MedlinePlus	CURATED	5
ENSP00000257901	KRT85	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000257904	CDK4	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000258080	HTRA2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000258080	HTRA2	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000258080	HTRA2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000258145	GNS	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000258145	GNS	DOID:12801	Mucopolysaccharidosis III	MedlinePlus	CURATED	5
ENSP00000258149	MDM2	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000258149	MDM2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000258173	TMEM231	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000258341	LAMC1	DOID:11555	Fuchs' endothelial dystrophy	MedlinePlus	CURATED	5
ENSP00000258381	SP110	DOID:0112254	Hepatic venoocclusive disease with immunodeficiency	MedlinePlus	CURATED	5
ENSP00000258385	CHRND	DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome	MedlinePlus	CURATED	5
ENSP00000258385	CHRND	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000258385	CHRND	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000258411	WNT10A	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000258411	WNT10A	DOID:14793	Hypohidrotic ectodermal dysplasia	MedlinePlus	CURATED	5
ENSP00000258411	WNT10A	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000258411	WNT10A	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000258415	CYP27A1	DOID:4810	Cerebrotendinous xanthomatosis	MedlinePlus	CURATED	5
ENSP00000258415	CYP27A1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000258439	TMEM127	DOID:0050773	Paraganglioma	MedlinePlus	CURATED	5
ENSP00000258443	EDAR	DOID:14793	Hypohidrotic ectodermal dysplasia	MedlinePlus	CURATED	5
ENSP00000258654	COG3	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000258739	KDELR2	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000258874	MTHFS	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000258886	IREB2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000258888	ALPK3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000258930	CIB2	DOID:0050439	Usher syndrome	MedlinePlus	CURATED	5
ENSP00000258930	CIB2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000258930	CIB2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000258930	CIB2	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000258975	TACO1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000258975	TACO1	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000258975	TACO1	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000259008	BRIP1	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000259008	BRIP1	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000259008	BRIP1	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000259008	BRIP1	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000259089	BLK	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000259089	BLK	DOID:418	Systemic scleroderma	MedlinePlus	CURATED	5
ENSP00000259089	BLK	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000259206	IL1RN	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000259206	IL1RN	DOID:585	Nephrolithiasis	MedlinePlus	CURATED	5
ENSP00000259206	IL1RN	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000259216	CFC1	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000259216	CFC1	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000259229	CCDC115	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000259241	HS6ST1	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000259241	HS6ST1	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000259241	HS6ST1	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000259371	DAB2IP	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000259400	STX17	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000259455	GABBR2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000259469	RPL35	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000259486	ENPP2	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000259698	RIPOR2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000259698	RIPOR2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000259808	RIPK1	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000259818	TUBB2B	DOID:0080143	Congenital fibrosis of the extraocular muscles	MedlinePlus	CURATED	5
ENSP00000259818	TUBB2B	DOID:0080918	Polymicrogyria	MedlinePlus	CURATED	5
ENSP00000259818	TUBB2B	DOID:0112237	Lissencephaly 1	MedlinePlus	CURATED	5
ENSP00000259938	CLPS	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000260010	TLR2	DOID:1024	Leprosy	MedlinePlus	CURATED	5
ENSP00000260116	TTPA	DOID:0090028	Familial isolated deficiency of vitamin E	MedlinePlus	CURATED	5
ENSP00000260197	SORL1	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000260197	SORL1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000260197	SORL1	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000260228	MMP20	DOID:2187	Amelogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000260228	MMP20	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000260361	NDUFAF1	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000260363	KIF23	DOID:1338	Congenital dyserythropoietic anemia	MedlinePlus	CURATED	5
ENSP00000260363	KIF23	DOID:1338	Congenital dyserythropoietic anemia	UniProtKB-KW	CURATED	4
ENSP00000260363	KIF23	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000260383	TUBGCP4	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000260408	ADAM10	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000260408	ADAM10	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000260408	ADAM10	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000260453	MNS1	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000260570	IFT172	DOID:0050592	Asphyxiating thoracic dystrophy	MedlinePlus	CURATED	5
ENSP00000260570	IFT172	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000260570	IFT172	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000260570	IFT172	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000260570	IFT172	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000260585	SELENOI	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000260585	SELENOI	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000260649	SLC3A1	DOID:9266	Cystinuria	MedlinePlus	CURATED	5
ENSP00000260649	SLC3A1	DOID:9266	Cystinuria	UniProtKB-KW	CURATED	4
ENSP00000260653	SIX3	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000260653	SIX3	DOID:4621	Holoprosencephaly	MedlinePlus	CURATED	5
ENSP00000260653	SIX3	DOID:4621	Holoprosencephaly	UniProtKB-KW	CURATED	4
ENSP00000260665	LRPPRC	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000260665	LRPPRC	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000260665	LRPPRC	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000260682	CYP2C9	DOID:0080666	Warfarin sensitivity	MedlinePlus	CURATED	5
ENSP00000260731	KIF11	DOID:0050535	Exudative vitreoretinopathy	MedlinePlus	CURATED	5
ENSP00000260818	DNAJC13	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000260818	DNAJC13	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000260947	BARD1	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000260947	BARD1	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000260947	BARD1	DOID:769	Neuroblastoma	MedlinePlus	CURATED	5
ENSP00000260950	MSTN	DOID:0111072	myostatin-related muscle hypertrophy	MedlinePlus	CURATED	5
ENSP00000260988	CRYGB	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000261007	CHRNA1	DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome	MedlinePlus	CURATED	5
ENSP00000261007	CHRNA1	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000261007	CHRNA1	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000261024	SLC40A1	DOID:0111033	African iron overload	MedlinePlus	CURATED	5
ENSP00000261024	SLC40A1	DOID:2352	Hemochromatosis	MedlinePlus	CURATED	5
ENSP00000261037	COL8A1	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000261195	GYS2	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000261200	ABCC9	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000261200	ABCC9	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000261200	ABCC9	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000261200	ABCC9	DOID:0060569	Hypertrichotic osteochondrodysplasia Cantu type	MedlinePlus	CURATED	5
ENSP00000261200	ABCC9	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000261208	HAL	DOID:0060168	Histidinemia	MedlinePlus	CURATED	5
ENSP00000261233	IRAK3	DOID:2841	Asthma	UniProtKB-KW	CURATED	4
ENSP00000261234	RXYLT1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000261234	RXYLT1	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000261234	RXYLT1	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000261267	LYZ	AmyCo:20	Hereditary lysozyme Amyloidosis	AmyCo	CURATED	4
ENSP00000261267	LYZ	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000261304	GALC	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000261304	GALC	DOID:10587	Krabbe disease	MedlinePlus	CURATED	5
ENSP00000261326	MOCOS	DOID:0060236	Xanthinuria	MedlinePlus	CURATED	5
ENSP00000261366	LMNB1	DOID:0060785	adult-onset autosomal dominant demyelinating leukodystrophy	MedlinePlus	CURATED	5
ENSP00000261366	LMNB1	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000261366	LMNB1	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000261367	SNCAIP	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000261367	SNCAIP	DOID:14330	Parkinson's disease	AmyCo	CURATED	4
ENSP00000261367	SNCAIP	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000261396	NUP133	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000261405	VWF	DOID:12531	Von Willebrand's disease	MedlinePlus	CURATED	5
ENSP00000261416	HEXB	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000261416	HEXB	DOID:2368	Gangliosidosis	UniProtKB-KW	CURATED	4
ENSP00000261416	HEXB	DOID:3323	Sandhoff disease	MedlinePlus	CURATED	5
ENSP00000261448	CASQ2	DOID:0060674	Catecholaminergic polymorphic ventricular tachycardia	MedlinePlus	CURATED	5
ENSP00000261475	PPP2R3C	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000261499	B9D1	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000261499	B9D1	DOID:0050778	Meckel syndrome	MedlinePlus	CURATED	5
ENSP00000261503	SPECC1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000261507	MSMO1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000261514	CLCN3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000261523	RORA	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000261534	POMT2	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000261534	POMT2	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000261534	POMT2	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000261534	POMT2	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000261534	POMT2	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000261537	MIB1	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000261537	MIB1	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000261584	PALB2	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000261584	PALB2	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000261584	PALB2	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000261584	PALB2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000261584	PALB2	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000261588	KIAA0556	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000261590	DSG2	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000261590	DSG2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000261590	DSG2	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000261596	LPIN2	DOID:1338	Congenital dyserythropoietic anemia	UniProtKB-KW	CURATED	4
ENSP00000261596	LPIN2	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000261597	NDC80	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000261600	THOC1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000261609	HERC2	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000261623	CYBA	DOID:3265	Chronic granulomatous disease	MedlinePlus	CURATED	5
ENSP00000261623	CYBA	DOID:3265	Chronic granulomatous disease	UniProtKB-KW	CURATED	4
ENSP00000261643	COX10	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000261643	COX10	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000261643	COX10	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000261647	TTC19	DOID:0111139	Mitochondrial complex III deficiency	MedlinePlus	CURATED	5
ENSP00000261647	TTC19	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000261652	TNFRSF13B	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000261667	KPNA3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000261667	KPNA3	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000261707	SLC6A4	DOID:10933	obsessive-compulsive disorder	MedlinePlus	CURATED	5
ENSP00000261707	SLC6A4	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000261707	SLC6A4	DOID:631	Fibromyalgia	MedlinePlus	CURATED	5
ENSP00000261726	CUX2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000261733	ALDH2	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000261758	MESD	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000261769	CDH1	DOID:0080344	Blepharocheilodontic syndrome	MedlinePlus	CURATED	5
ENSP00000261769	CDH1	DOID:0080764	Hereditary diffuse gastric cancer	MedlinePlus	CURATED	5
ENSP00000261769	CDH1	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000261769	CDH1	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000261769	CDH1	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000261772	AARS1	DOID:0080796	Core binding factor acute myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000261772	AARS1	DOID:0111866	Trichothiodystrophy	MedlinePlus	CURATED	5
ENSP00000261772	AARS1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000261772	AARS1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000261772	AARS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000261772	AARS1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000261772	AARS1	DOID:1933	Rubinstein-Taybi syndrome	MedlinePlus	CURATED	5
ENSP00000261772	AARS1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000261776	VAC14	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000261799	PDGFRB	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000261800	FAT2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000261800	FAT2	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000261842	AP4E1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000261842	AP4E1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000261866	SPG11	DOID:0110764	Hereditary spastic paraplegia 11	MedlinePlus	CURATED	5
ENSP00000261866	SPG11	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000261866	SPG11	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000261866	SPG11	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000261866	SPG11	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000261866	SPG11	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000261866	SPG11	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000261866	SPG11	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000261880	AAGAB	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000261883	CILP	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000261884	TRIP4	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000261884	TRIP4	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000261892	SLC24A1	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000261892	SLC24A1	DOID:0110865	Congenital stationary night blindness 1B	MedlinePlus	CURATED	5
ENSP00000261917	HCN4	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000261917	HCN4	DOID:0050451	Brugada syndrome	UniProtKB-KW	CURATED	4
ENSP00000261917	HCN4	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000261917	HCN4	DOID:13884	Sick sinus syndrome	MedlinePlus	CURATED	5
ENSP00000261917	HCN4	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000261918	SEMA7A	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000261918	SEMA7A	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000261921	LOXL1	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000261937	FLT4	DOID:0070212	Hereditary lymphedema I	MedlinePlus	CURATED	5
ENSP00000261978	LTBP2	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000261980	VSX2	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000261980	VSX2	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000261980	VSX2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000261980	VSX2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000262018	SGCA	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000262018	SGCA	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000262027	MARS1	DOID:0111866	Trichothiodystrophy	MedlinePlus	CURATED	5
ENSP00000262027	MARS1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000262027	MARS1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000262027	MARS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000262027	MARS1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000262027	MARS1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000262103	EFCAB1	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000262105	MCM4	DOID:0080620	Familial glucocorticoid deficiency	MedlinePlus	CURATED	5
ENSP00000262160	SMAD2	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000262160	SMAD2	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000262177	DNAJB6	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000262177	DNAJB6	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000262186	KCNH2	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000262186	KCNH2	DOID:0050793	Short QT syndrome	MedlinePlus	CURATED	5
ENSP00000262186	KCNH2	DOID:2843	Long QT syndrome	MedlinePlus	CURATED	5
ENSP00000262186	KCNH2	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000262189	KMT2C	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000262189	KMT2C	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000262210	CSPP1	DOID:0050592	Asphyxiating thoracic dystrophy	MedlinePlus	CURATED	5
ENSP00000262210	CSPP1	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000262215	ARFGEF1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000262294	TRIM37	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000262304	PKD1	DOID:0080322	Polycystic kidney disease	MedlinePlus	CURATED	5
ENSP00000262320	AXIN1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000262340	RPE65	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000262340	RPE65	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000262340	RPE65	DOID:11105	Fundus albipunctatus	MedlinePlus	CURATED	5
ENSP00000262340	RPE65	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000262340	RPE65	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000262366	GLIS2	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000262366	GLIS2	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000262367	CREBBP	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000262367	CREBBP	DOID:1933	Rubinstein-Taybi syndrome	MedlinePlus	CURATED	5
ENSP00000262374	ALG1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000262406	RGS9	DOID:0050335	Bradyopsia	MedlinePlus	CURATED	5
ENSP00000262407	ITGA2B	DOID:2219	Glanzmann's thrombasthenia	MedlinePlus	CURATED	5
ENSP00000262418	SLC4A1	DOID:12971	Hereditary spherocytosis	MedlinePlus	CURATED	5
ENSP00000262418	SLC4A1	DOID:2373	Hereditary elliptocytosis	UniProtKB-KW	CURATED	4
ENSP00000262418	SLC4A1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000262442	DNAH9	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000262442	DNAH9	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000262450	CHD5	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000262450	CHD5	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000262457	INVS	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000262457	INVS	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000262461	SLC12A2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000262483	PITPNM3	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000262483	PITPNM3	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000262494	GNAO1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000262507	COQ9	DOID:0050730	Coenzyme Q10 deficiency disease	MedlinePlus	CURATED	5
ENSP00000262518	SRCAP	DOID:0111358	Floating-Harbor syndrome	MedlinePlus	CURATED	5
ENSP00000262519	SETD1A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000262554	SPTLC1	DOID:0070152	Hereditary sensory and autonomic neuropathy type 1A	MedlinePlus	CURATED	5
ENSP00000262554	SPTLC1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000262554	SPTLC1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000262554	SPTLC1	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000262554	SPTLC1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000262629	TYROBP	DOID:0090112	Nasu-Hakola disease	MedlinePlus	CURATED	5
ENSP00000262643	CCNE1	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000262648	ANOS1	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000262648	ANOS1	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000262648	ANOS1	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000262809	ELL	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000262811	MAST3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000262844	AMMECR1	DOID:10983	Alport syndrome	UniProtKB-KW	CURATED	4
ENSP00000262844	AMMECR1	DOID:2373	Hereditary elliptocytosis	UniProtKB-KW	CURATED	4
ENSP00000262844	AMMECR1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000262887	XRCC1	DOID:0050755	Spinocerebellar ataxia with axonal neuropathy 2	MedlinePlus	CURATED	5
ENSP00000262887	XRCC1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000262903	HACE1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000262903	HACE1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000262916	KCNQ4	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000262916	KCNQ4	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000262948	MAP2K2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000262948	MAP2K2	DOID:0060233	Cardiofaciocutaneous syndrome	MedlinePlus	CURATED	5
ENSP00000262960	DPP9	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000262965	TCF3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000262995	GAB1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000262999	UCP1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000262999	UCP1	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000263035	DHTKD1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000263035	DHTKD1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000263035	DHTKD1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000263035	DHTKD1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000263038	PHYH	DOID:10582	Refsum disease	MedlinePlus	CURATED	5
ENSP00000263038	PHYH	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000263038	PHYH	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000263038	PHYH	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000263056	MAP3K8	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000263056	MAP3K8	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000263063	MTPAP	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000263080	ASPA	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000263080	ASPA	DOID:3613	Canavan disease	MedlinePlus	CURATED	5
ENSP00000263083	DPH1	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000263094	ABCA7	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000263094	ABCA7	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000263094	ABCA7	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000263102	CCDC6	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000263187	MSH4	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000263196	DGCR2	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000263209	DGCR8	DOID:2154	Nephroblastoma	MedlinePlus	CURATED	5
ENSP00000263209	DGCR8	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000263253	EP300	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000263253	EP300	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000263253	EP300	DOID:1933	Rubinstein-Taybi syndrome	MedlinePlus	CURATED	5
ENSP00000263269	GRIN2D	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000263321	TYR	DOID:0050632	Oculocutaneous albinism	MedlinePlus	CURATED	5
ENSP00000263321	TYR	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000263334	PAX8	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000263334	PAX8	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000263339	IL1A	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000263339	IL1A	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000263339	IL1A	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000263341	IL1B	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000263370	ITPKC	DOID:13378	Kawasaki disease	MedlinePlus	CURATED	5
ENSP00000263377	BRD4	DOID:11725	Cornelia de Lange syndrome	MedlinePlus	CURATED	5
ENSP00000263388	NOTCH3	DOID:0111343	Lateral meningocele syndrome	MedlinePlus	CURATED	5
ENSP00000263388	NOTCH3	DOID:13945	CADASIL	MedlinePlus	CURATED	5
ENSP00000263408	C9	DOID:0050637	Finnish type amyloidosis	AmyCo	CURATED	4
ENSP00000263408	C9	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000263408	C9	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000263431	PRKCG	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000263431	PRKCG	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000263440	ALG6	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000263461	WDR11	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000263461	WDR11	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000263461	WDR11	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000263461	WDR11	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000263519	ATP2B3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000263578	FOXRED1	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000263578	FOXRED1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000263645	CD81	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000263702	MECR	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000263726	LHX4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000263726	LHX4	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000263734	EPAS1	DOID:10780	Primary polycythemia	MedlinePlus	CURATED	5
ENSP00000263734	EPAS1	DOID:10780	Primary polycythemia	UniProtKB-KW	CURATED	4
ENSP00000263735	EPCAM	DOID:3883	Lynch syndrome	MedlinePlus	CURATED	5
ENSP00000263735	EPCAM	DOID:3883	Lynch syndrome	UniProtKB-KW	CURATED	4
ENSP00000263753	SGO1	DOID:0060339	Chronic atrial and intestinal dysrhythmia	MedlinePlus	CURATED	5
ENSP00000263773	FNBP4	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000263773	FNBP4	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000263774	NDUFS3	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000263774	NDUFS3	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000263780	CHMP2B	DOID:0111227	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	MedlinePlus	CURATED	5
ENSP00000263780	CHMP2B	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000263780	CHMP2B	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000263780	CHMP2B	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000263791	EIF2AK4	DOID:14557	Primary pulmonary hypertension	MedlinePlus	CURATED	5
ENSP00000263791	EIF2AK4	DOID:5453	Pulmonary venoocclusive disease	MedlinePlus	CURATED	5
ENSP00000263800	LTK	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000263800	LTK	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000263857	POLR1A	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000263934	KIF1B	DOID:0050773	Paraganglioma	MedlinePlus	CURATED	5
ENSP00000263934	KIF1B	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000263934	KIF1B	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000263934	KIF1B	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000263934	KIF1B	DOID:769	Neuroblastoma	MedlinePlus	CURATED	5
ENSP00000263934	KIF1B	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000263967	PIK3CA	DOID:0111162	Epidermal nevus	MedlinePlus	CURATED	5
ENSP00000263967	PIK3CA	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000263967	PIK3CA	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000263967	PIK3CA	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000263967	PIK3CA	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000263967	PIK3CA	DOID:2926	Klippel-Trenaunay syndrome	MedlinePlus	CURATED	5
ENSP00000263967	PIK3CA	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000263967	PIK3CA	DOID:5520	Head and neck squamous cell carcinoma	MedlinePlus	CURATED	5
ENSP00000263967	PIK3CA	DOID:6457	Cowden syndrome	MedlinePlus	CURATED	5
ENSP00000263980	SLC9A1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000263991	EHBP1	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000263997	SLC7A6OS	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000263997	SLC7A6OS	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000264005	LCAT	DOID:1391	Norum disease	MedlinePlus	CURATED	5
ENSP00000264012	CDH3	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000264033	CBL	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000264039	GPC1	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	AmyCo	CURATED	4
ENSP00000264039	GPC1	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000264047	SLC5A7	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000264047	SLC5A7	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000264047	SLC5A7	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000264071	TUBB4A	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000264071	TUBB4A	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000264079	MCOLN1	DOID:0080490	Mucolipidosis type IV	MedlinePlus	CURATED	5
ENSP00000264079	MCOLN1	DOID:3343	Glycoproteinosis	UniProtKB-KW	CURATED	4
ENSP00000264093	DGUOK	DOID:0080121	Mitochondrial DNA depletion syndrome 3	MedlinePlus	CURATED	5
ENSP00000264093	DGUOK	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000264093	DGUOK	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000264094	LOXL3	DOID:0080046	Stickler syndrome	UniProtKB-KW	CURATED	4
ENSP00000264144	LAMC2	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000264144	LAMC2	DOID:3209	Junctional epidermolysis bullosa	MedlinePlus	CURATED	5
ENSP00000264156	MCM6	DOID:10604	Lactose intolerance	MedlinePlus	CURATED	5
ENSP00000264162	LCT	DOID:10604	Lactose intolerance	MedlinePlus	CURATED	5
ENSP00000264167	AGPS	DOID:2580	Rhizomelic chondrodysplasia punctata	MedlinePlus	CURATED	5
ENSP00000264167	AGPS	DOID:2580	Rhizomelic chondrodysplasia punctata	UniProtKB-KW	CURATED	4
ENSP00000264167	AGPS	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000264228	SRD5A3	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000264228	SRD5A3	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000264228	SRD5A3	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000264245	ARHGAP31	DOID:0060227	Adams-Oliver syndrome	MedlinePlus	CURATED	5
ENSP00000264263	GFM1	DOID:0111474	Combined oxidative phosphorylation deficiency 1	MedlinePlus	CURATED	5
ENSP00000264263	GFM1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000264276	ALS2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000264276	ALS2	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000264276	ALS2	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000264318	GABRA4	DOID:5418	Schizoaffective disorder	MedlinePlus	CURATED	5
ENSP00000264335	YWHAE	DOID:0060469	Miller-Dieker lissencephaly syndrome	MedlinePlus	CURATED	5
ENSP00000264335	YWHAE	DOID:14330	Parkinson's disease	AmyCo	CURATED	4
ENSP00000264335	YWHAE	DOID:4249	Gerstmann-Straussler-Scheinker syndrome	AmyCo	CURATED	4
ENSP00000264335	YWHAE	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000264344	FAM13A	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000264376	CRYGD	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000264382	SI	DOID:0111633	Congenital sucrase-isomaltase deficiency	MedlinePlus	CURATED	5
ENSP00000264414	CUL3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000264428	GLRB	DOID:0060695	Hyperekplexia	MedlinePlus	CURATED	5
ENSP00000264431	RAPGEF2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000264499	BBS7	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000264499	BBS7	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000264499	BBS7	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000264595	AGA	DOID:0050461	Aspartylglucosaminuria	MedlinePlus	CURATED	5
ENSP00000264605	MLPH	DOID:0060831	Griscelli syndrome	MedlinePlus	CURATED	5
ENSP00000264606	HDAC4	DOID:0111704	Chromosome 2q37 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000264606	HDAC4	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000264613	CP	DOID:0050711	Aceruloplasminemia	MedlinePlus	CURATED	5
ENSP00000264634	WNT5A	DOID:0060254	Robinow syndrome	MedlinePlus	CURATED	5
ENSP00000264637	THRA	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000264637	THRA	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000264638	CNTNAP1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000264638	CNTNAP1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000264649	ATP6V0A1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000264657	STAT3	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000264657	STAT3	DOID:3261	Hyper IgE recurrent infection syndrome 1	MedlinePlus	CURATED	5
ENSP00000264657	STAT3	DOID:6688	Autoimmune lymphoproliferative syndrome	MedlinePlus	CURATED	5
ENSP00000264657	STAT3	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000264657	STAT3	DOID:8536	Herpes zoster	MedlinePlus	CURATED	5
ENSP00000264657	STAT3	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000264657	STAT3	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000264663	NNT	DOID:0080620	Familial glucocorticoid deficiency	MedlinePlus	CURATED	5
ENSP00000264664	FGF10	DOID:0050331	Lacrimoauriculodentodigital syndrome 1	UniProtKB-KW	CURATED	4
ENSP00000264664	FGF10	DOID:0081370	LADD syndrome	MedlinePlus	CURATED	5
ENSP00000264674	MECOM	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000264689	UFSP2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000264705	CAD	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000264705	CAD	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000264709	DNMT3A	DOID:0112339	Tatton-Brown-Rahman syndrome	MedlinePlus	CURATED	5
ENSP00000264709	DNMT3A	DOID:349	Systemic mastocytosis	MedlinePlus	CURATED	5
ENSP00000264710	RAB10	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000264711	DNAJC27	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000264717	GCKR	DOID:0080208	Metabolic dysfunction-associated steatotic liver disease	MedlinePlus	CURATED	5
ENSP00000264731	TP63	DOID:0090119	ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	MedlinePlus	CURATED	5
ENSP00000264731	TP63	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000264771	TMEM175	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000264771	TMEM175	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000264773	KCNN2	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000264784	SLC2A9	DOID:13189	Gout	MedlinePlus	CURATED	5
ENSP00000264808	PRDM5	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000264824	LYL1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000264834	KLF1	DOID:1338	Congenital dyserythropoietic anemia	MedlinePlus	CURATED	5
ENSP00000264834	KLF1	DOID:1338	Congenital dyserythropoietic anemia	UniProtKB-KW	CURATED	4
ENSP00000264834	KLF1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000264870	F13A1	DOID:2211	Factor XIII deficiency	MedlinePlus	CURATED	5
ENSP00000264883	NUP54	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000264896	SCARB2	DOID:0111444	Progressive myoclonus epilepsy 4	MedlinePlus	CURATED	5
ENSP00000264896	SCARB2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000264896	SCARB2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000264914	ARSB	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000264914	ARSB	DOID:10581	Metachromatic leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000264914	ARSB	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000264914	ARSB	DOID:12800	Mucopolysaccharidosis VI	MedlinePlus	CURATED	5
ENSP00000264917	PDE8B	DOID:12252	DOID:12252	UniProtKB-KW	CURATED	4
ENSP00000264932	SDHA	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000264932	SDHA	DOID:0050773	Paraganglioma	MedlinePlus	CURATED	5
ENSP00000264932	SDHA	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000264932	SDHA	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000264932	SDHA	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000264932	SDHA	DOID:9253	Gastrointestinal stromal tumor	MedlinePlus	CURATED	5
ENSP00000264956	EVC	DOID:0111571	Weyers acrofacial dysostosis	MedlinePlus	CURATED	5
ENSP00000264956	EVC	DOID:12714	Ellis-Van Creveld syndrome	MedlinePlus	CURATED	5
ENSP00000264972	ZAP70	DOID:0111943	Immunodeficiency 48	MedlinePlus	CURATED	5
ENSP00000264972	ZAP70	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000265038	ERCC8	DOID:0060240	UV-sensitive syndrome	MedlinePlus	CURATED	5
ENSP00000265038	ERCC8	DOID:2962	Cockayne syndrome	MedlinePlus	CURATED	5
ENSP00000265038	ERCC8	DOID:2962	Cockayne syndrome	UniProtKB-KW	CURATED	4
ENSP00000265056	MCM2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000265062	RAB7A	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000265062	RAB7A	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000265062	RAB7A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000265062	RAB7A	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000265077	VCAN	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000265104	DNAH5	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000265104	DNAH5	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000265104	DNAH5	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000265113	SLC1A3	DOID:963	Episodic ataxia	MedlinePlus	CURATED	5
ENSP00000265131	TNC	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000265131	TNC	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000265148	CENPE	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000265171	EGF	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000265191	NME5	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000265191	NME5	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000265195	SIL1	DOID:0080195	Marinesco-Sjogren syndrome	MedlinePlus	CURATED	5
ENSP00000265316	ABCB6	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000265316	ABCB6	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000265316	ABCB6	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000265316	ABCB6	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000265343	AFF4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000265343	AFF4	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000265361	SEMA3C	DOID:10487	Hirschsprung's disease	MedlinePlus	CURATED	5
ENSP00000265362	SEMA3A	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000265362	SEMA3A	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000265362	SEMA3A	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000265371	NRP1	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000265388	TNPO3	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000265388	TNPO3	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000265433	NBN	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000265433	NBN	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000265433	NBN	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000265433	NBN	DOID:7400	Nijmegen breakage syndrome	MedlinePlus	CURATED	5
ENSP00000265462	PRDX5	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000265560	USP4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000265562	PTPN23	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000265593	CLCN2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000265593	CLCN2	DOID:4890	Juvenile myoclonic epilepsy	MedlinePlus	CURATED	5
ENSP00000265594	MCCC1	DOID:0050710	3-methylcrotonyl-CoA carboxylase deficiency	MedlinePlus	CURATED	5
ENSP00000265602	AHI1	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000265641	CPT1A	DOID:0090129	Carnitine palmitoyltransferase I deficiency	MedlinePlus	CURATED	5
ENSP00000265643	GAL	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000265643	GAL	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000265686	TCIRG1	DOID:0050590	Severe congenital neutropenia	MedlinePlus	CURATED	5
ENSP00000265686	TCIRG1	DOID:13533	Osteopetrosis	MedlinePlus	CURATED	5
ENSP00000265686	TCIRG1	DOID:13533	Osteopetrosis	UniProtKB-KW	CURATED	4
ENSP00000265689	CHKA	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000265709	ANK1	DOID:12971	Hereditary spherocytosis	MedlinePlus	CURATED	5
ENSP00000265709	ANK1	DOID:2373	Hereditary elliptocytosis	UniProtKB-KW	CURATED	4
ENSP00000265709	ANK1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000265713	KAT6A	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000265723	ABCB4	DOID:0070221	Progressive familial intrahepatic cholestasis	MedlinePlus	CURATED	5
ENSP00000265723	ABCB4	DOID:0070227	Intrahepatic cholestasis of pregnancy	MedlinePlus	CURATED	5
ENSP00000265723	ABCB4	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000265727	ADAM22	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000265734	CDK6	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000265734	CDK6	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000265753	EIF4H	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000265838	ACAT1	DOID:14723	beta-ketothiolase deficiency	MedlinePlus	CURATED	5
ENSP00000265843	EXPH5	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000265849	PMS2	DOID:0112182	Mismatch repair cancer syndrome	MedlinePlus	CURATED	5
ENSP00000265849	PMS2	DOID:3883	Lynch syndrome	MedlinePlus	CURATED	5
ENSP00000265849	PMS2	DOID:3883	Lynch syndrome	UniProtKB-KW	CURATED	4
ENSP00000265857	GET4	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000265967	HPS5	DOID:3753	Hermansky-Pudlak syndrome	MedlinePlus	CURATED	5
ENSP00000265967	HPS5	DOID:3753	Hermansky-Pudlak syndrome	UniProtKB-KW	CURATED	4
ENSP00000265969	KCNC1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000265969	KCNC1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000265970	PIK3C2A	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000266031	HYAL1	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000266079	PRPF6	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000266085	TIMP3	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000266087	FBXO7	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000266087	FBXO7	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000266126	EIF2B2	DOID:0060868	Leukoencephalopathy with vanishing white matter	MedlinePlus	CURATED	5
ENSP00000266126	EIF2B2	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000266269	PATZ1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000266376	CACNA1C	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000266376	CACNA1C	DOID:0050451	Brugada syndrome	UniProtKB-KW	CURATED	4
ENSP00000266376	CACNA1C	DOID:0050793	Short QT syndrome	MedlinePlus	CURATED	5
ENSP00000266376	CACNA1C	DOID:0060173	Timothy syndrome	MedlinePlus	CURATED	5
ENSP00000266376	CACNA1C	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000266376	CACNA1C	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000266395	PDE6H	DOID:13911	Achromatopsia	MedlinePlus	CURATED	5
ENSP00000266544	NDUFA9	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000266544	NDUFA9	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000266712	TMTC3	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000266732	TMPO	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000266732	TMPO	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000266980	SLC39A5	DOID:11830	Myopia	MedlinePlus	CURATED	5
ENSP00000267101	ERBB3	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000267101	ERBB3	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000267119	KRT71	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000267163	RB1	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000267163	RB1	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000267163	RB1	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000267163	RB1	DOID:768	Retinoblastoma	MedlinePlus	CURATED	5
ENSP00000267199	VPS33A	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000267415	TINF2	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000267415	TINF2	DOID:2729	Dyskeratosis congenita	MedlinePlus	CURATED	5
ENSP00000267415	TINF2	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000267430	FANCM	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000267430	FANCM	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000267436	L2HGDH	DOID:0050573	2-hydroxyglutaric aciduria	MedlinePlus	CURATED	5
ENSP00000267622	TRIP11	DOID:0080043	Achondrogenesis	MedlinePlus	CURATED	5
ENSP00000267814	SORD	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000267853	MYZAP	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000267890	TTBK2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000267890	TTBK2	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000268057	BBS4	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000268057	BBS4	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000268057	BBS4	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000268058	PML	DOID:0060318	Acute promyelocytic leukemia	MedlinePlus	CURATED	5
ENSP00000268058	PML	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000268125	RLBP1	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000268125	RLBP1	DOID:11105	Fundus albipunctatus	MedlinePlus	CURATED	5
ENSP00000268150	MFGE8	AmyCo:29	AA Amyloidosis	AmyCo	CURATED	4
ENSP00000268150	MFGE8	AmyCo:40	Medin Amyloidosis	AmyCo	CURATED	4
ENSP00000268206	EFL1	DOID:0060479	Shwachman-Diamond syndrome	MedlinePlus	CURATED	5
ENSP00000268261	PMM2	DOID:0080552	Congenital disorder of glycosylation Ia	MedlinePlus	CURATED	5
ENSP00000268261	PMM2	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000268379	UQCRC2	DOID:0111139	Mitochondrial complex III deficiency	MedlinePlus	CURATED	5
ENSP00000268482	DHX38	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000268482	DHX38	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000268661	RPL3L	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000268668	NDUFB10	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000268695	GALNS	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000268699	GAS8	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000268699	GAS8	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000268766	NEK8	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000268766	NEK8	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000268876	UNC45B	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000268876	UNC45B	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000269097	G6PC3	DOID:0050590	Severe congenital neutropenia	MedlinePlus	CURATED	5
ENSP00000269141	CDH2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000269143	AFG3L2	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
ENSP00000269143	AFG3L2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000269143	AFG3L2	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000269197	ASXL3	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000269216	GATA6	DOID:1882	Atrial heart septal defect	UniProtKB-KW	CURATED	4
ENSP00000269228	NPC1	DOID:14504	Niemann-Pick disease	MedlinePlus	CURATED	5
ENSP00000269228	NPC1	DOID:14504	Niemann-Pick disease	UniProtKB-KW	CURATED	4
ENSP00000269305	TP53	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000269305	TP53	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000269305	TP53	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000269305	TP53	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000269305	TP53	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000269305	TP53	DOID:2154	Nephroblastoma	MedlinePlus	CURATED	5
ENSP00000269305	TP53	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000269305	TP53	DOID:3012	Li-Fraumeni syndrome	MedlinePlus	CURATED	5
ENSP00000269305	TP53	DOID:3012	Li-Fraumeni syndrome	UniProtKB-KW	CURATED	4
ENSP00000269305	TP53	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000269305	TP53	DOID:5520	Head and neck squamous cell carcinoma	MedlinePlus	CURATED	5
ENSP00000269503	CBLN2	DOID:14557	Primary pulmonary hypertension	MedlinePlus	CURATED	5
ENSP00000269571	ERBB2	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000269571	ERBB2	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000269571	ERBB2	DOID:769	Neuroblastoma	MedlinePlus	CURATED	5
ENSP00000269576	KRT10	DOID:4603	Epidermolytic hyperkeratosis	MedlinePlus	CURATED	5
ENSP00000269601	TXNL4A	DOID:0080695	Burn-McKeown syndrome	MedlinePlus	CURATED	5
ENSP00000269703	CYP4F22	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000269703	CYP4F22	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000269881	CALR3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000269881	CALR3	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000269886	SH3GL1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000269980	BCKDHA	DOID:9269	Maple syrup urine disease	MedlinePlus	CURATED	5
ENSP00000269980	BCKDHA	DOID:9269	Maple syrup urine disease	UniProtKB-KW	CURATED	4
ENSP00000270115	LRRC56	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000270115	LRRC56	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000270142	SOD1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000270142	SOD1	DOID:332	Amyotrophic lateral sclerosis	AmyCo	CURATED	4
ENSP00000270142	SOD1	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000270142	SOD1	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000270162	SIK1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000270176	SCYL1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000270176	SCYL1	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000270349	SLC6A3	DOID:0070487	Dopamine transporter deficiency syndrome	MedlinePlus	CURATED	5
ENSP00000270349	SLC6A3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000270349	SLC6A3	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000270349	SLC6A3	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000270349	SLC6A3	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000270593	ACP4	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000270722	PRDM16	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000270722	PRDM16	DOID:0060410	Chromosome 1p36 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000270722	PRDM16	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000270722	PRDM16	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000271526	PRCC	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000271532	FCRL4	DOID:9538	Multiple myeloma	MedlinePlus	CURATED	5
ENSP00000271555	MEF2D	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000271588	HMCN1	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000271588	HMCN1	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000271620	PRUNE1	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000271620	PRUNE1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000271628	SF3B4	DOID:5768	Nager acrofacial dysostosis	MedlinePlus	CURATED	5
ENSP00000271715	POGZ	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000271715	POGZ	DOID:0070067	White-Sutton syndrome	MedlinePlus	CURATED	5
ENSP00000271751	KCNH1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000272233	RHOB	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000272286	ABCG8	DOID:0090019	Sitosterolemia	MedlinePlus	CURATED	5
ENSP00000272317	RPS27A	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000272321	WDPCP	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000272321	WDPCP	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000272369	MEIS1	DOID:0050425	Restless legs syndrome	MedlinePlus	CURATED	5
ENSP00000272371	OTOF	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000272371	OTOF	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000272371	OTOF	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000272602	CNGA3	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000272602	CNGA3	DOID:13911	Achromatopsia	MedlinePlus	CURATED	5
ENSP00000272602	CNGA3	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000272895	ABCA12	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000272895	ABCA12	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000272895	ABCA12	DOID:0060713	Autosomal recessive congenital ichthyosis 4B	MedlinePlus	CURATED	5
ENSP00000272902	SUMF1	DOID:0050441	Mucosulfatidosis	MedlinePlus	CURATED	5
ENSP00000272902	SUMF1	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000272902	SUMF1	DOID:10581	Metachromatic leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000272902	SUMF1	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000273077	PNKD	DOID:0090053	Episodic kinesigenic dyskinesia 1	MedlinePlus	CURATED	5
ENSP00000273077	PNKD	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000273317	LIMD1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000273398	ATP6V1A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000273398	ATP6V1A	DOID:3144	Cutis laxa	MedlinePlus	CURATED	5
ENSP00000273550	FTH1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000273588	AMT	DOID:9268	Glycine encephalopathy	MedlinePlus	CURATED	5
ENSP00000273590	TCTA	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000273784	AHSG	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000273857	CORIN	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000273962	TRMT10A	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000273986	CISD2	DOID:10632	Wolfram syndrome	MedlinePlus	CURATED	5
ENSP00000273986	CISD2	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000274008	SPATA5	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000274137	NDUFS6	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000274140	MARCHF6	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000274276	OSMR	DOID:0050639	Primary cutaneous amyloidosis	MedlinePlus	CURATED	5
ENSP00000274276	OSMR	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000274496	YIPF5	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000274496	YIPF5	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000274498	ARHGAP26	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000274507	LECT2	AmyCo:27	Leukocyte chemotactic factor 2 Amyloidosis	AmyCo	CURATED	4
ENSP00000274547	GABRB2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000274606	NHP2	DOID:2729	Dyskeratosis congenita	MedlinePlus	CURATED	5
ENSP00000274606	NHP2	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000274695	CDKAL1	DOID:11714	Gestational diabetes	MedlinePlus	CURATED	5
ENSP00000274695	CDKAL1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000274793	PLA2G7	DOID:2841	Asthma	UniProtKB-KW	CURATED	4
ENSP00000274813	MMUT	DOID:14749	Methylmalonic acidemia	MedlinePlus	CURATED	5
ENSP00000275216	TAAR1	DOID:631	Fibromyalgia	MedlinePlus	CURATED	5
ENSP00000275493	EGFR	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000275493	EGFR	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000275493	EGFR	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000276062	NDUFB11	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000276062	NDUFB11	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000276062	NDUFB11	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000276201	UPF3B	DOID:14711	FG syndrome	MedlinePlus	CURATED	5
ENSP00000276211	ARHGAP36	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000276282	MFHAS1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000276414	GNRH1	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000276414	GNRH1	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000276571	CRH	DOID:0060681	Autosomal dominant nocturnal frontal lobe epilepsy	MedlinePlus	CURATED	5
ENSP00000276651	DPYS	DOID:0111629	Dihydropyrimidinase deficiency	MedlinePlus	CURATED	5
ENSP00000276654	LRP12	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000276654	LRP12	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000276659	RSPO2	DOID:0112191	Tetraamelia syndrome	MedlinePlus	CURATED	5
ENSP00000276689	NDUFB9	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000277010	SIGMAR1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000277010	SIGMAR1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000277010	SIGMAR1	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000277010	SIGMAR1	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000277010	SIGMAR1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000277120	NTRK2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000277120	NTRK2	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000277865	GLUD1	DOID:13317	Hyperinsulinemic hypoglycemia	MedlinePlus	CURATED	5
ENSP00000278243	PGAP2	DOID:0070431	Hyperphosphatasia with impaired intellectual development syndrome	MedlinePlus	CURATED	5
ENSP00000278379	SLC1A2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000278407	SERPING1	DOID:14735	Hereditary angioedema	MedlinePlus	CURATED	5
ENSP00000278422	TMX2	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000278422	TMX2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000278483	HIKESHI	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000278568	PAK1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000278616	ATM	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000278616	ATM	DOID:12704	Ataxia telangiectasia	MedlinePlus	CURATED	5
ENSP00000278616	ATM	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000278616	ATM	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000278616	ATM	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000278742	ST14	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000278826	TMEM138	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000278833	ROM1	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000278833	ROM1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000278935	CEP164	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000278935	CEP164	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000278937	MPZL2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000278947	SCN2B	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000278947	SCN2B	DOID:0050451	Brugada syndrome	UniProtKB-KW	CURATED	4
ENSP00000278947	SCN2B	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000278947	SCN2B	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000279036	PIGT	DOID:0060284	Paroxysmal nocturnal hemoglobinuria	MedlinePlus	CURATED	5
ENSP00000279036	PIGT	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000279146	AIP	DOID:12252	DOID:12252	UniProtKB-KW	CURATED	4
ENSP00000279488	DUSP6	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000279488	DUSP6	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000279488	DUSP6	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000280154	PDCD4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000280155	ADRA2A	DOID:0050440	Familial partial lipodystrophy	MedlinePlus	CURATED	5
ENSP00000280326	CCT5	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000280346	DLAT	DOID:3649	Pyruvate decarboxylase deficiency	MedlinePlus	CURATED	5
ENSP00000280346	DLAT	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000280362	PTS	DOID:9281	Phenylketonuria	UniProtKB-KW	CURATED	4
ENSP00000280481	FREM2	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000280481	FREM2	DOID:0090001	Fraser syndrome	MedlinePlus	CURATED	5
ENSP00000280481	FREM2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000280527	CRIM1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000280551	SEC24D	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000280551	SEC24D	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000280700	NGLY1	DOID:0060728	NGLY1-deficiency	MedlinePlus	CURATED	5
ENSP00000280904	DSC2	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000280904	DSC2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000281038	NARS2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000281038	NARS2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000281038	NARS2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000281038	NARS2	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000281043	MYCN	DOID:0060464	Feingold syndrome	MedlinePlus	CURATED	5
ENSP00000281043	MYCN	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000281043	MYCN	DOID:768	Retinoblastoma	MedlinePlus	CURATED	5
ENSP00000281043	MYCN	DOID:769	Neuroblastoma	MedlinePlus	CURATED	5
ENSP00000281081	NUBPL	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000281092	FER	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000281142	SCLT1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000281243	QDPR	DOID:9281	Phenylketonuria	UniProtKB-KW	CURATED	4
ENSP00000281382	PIGF	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000281456	SLC25A4	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000281456	SLC25A4	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
ENSP00000281456	SLC25A4	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000281543	GUF1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000281828	FARSB	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000281834	TNFSF4	DOID:418	Systemic scleroderma	MedlinePlus	CURATED	5
ENSP00000281834	TNFSF4	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000281834	TNFSF4	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000281924	TMEM163	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000281938	HSPB8	DOID:0080307	Myofibrillar myopathy	MedlinePlus	CURATED	5
ENSP00000281938	HSPB8	DOID:0111206	Autosomal dominant distal hereditary motor neuronopathy 2	MedlinePlus	CURATED	5
ENSP00000281938	HSPB8	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000281938	HSPB8	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000281938	HSPB8	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000281938	HSPB8	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000281938	HSPB8	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000282020	GRID2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000282041	EPG5	DOID:0060356	Vici syndrome	MedlinePlus	CURATED	5
ENSP00000282041	EPG5	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000282111	TCF7L1	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000282141	CRYGC	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000282276	MARS2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000282516	NIPBL	DOID:11725	Cornelia de Lange syndrome	MedlinePlus	CURATED	5
ENSP00000282541	GPD1L	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000282541	GPD1L	DOID:0050451	Brugada syndrome	UniProtKB-KW	CURATED	4
ENSP00000282561	GJA1	DOID:0050467	Erythrokeratodermia variabilis	MedlinePlus	CURATED	5
ENSP00000282561	GJA1	DOID:0060291	Oculodentodigital dysplasia	MedlinePlus	CURATED	5
ENSP00000282561	GJA1	DOID:0080033	Craniometaphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000282561	GJA1	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000282561	GJA1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000282561	GJA1	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000282561	GJA1	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000282561	GJA1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000282572	CCNO	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000282572	CCNO	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000282753	GRM1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000282753	GRM1	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000282841	GGPS1	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000282903	PLOD2	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000282928	ZIC1	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000282928	ZIC1	DOID:2785	Dandy-Walker syndrome	MedlinePlus	CURATED	5
ENSP00000283141	SYCP2L	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000283195	RANBP2	DOID:5222	Acute necrotizing encephalitis	MedlinePlus	CURATED	5
ENSP00000283249	ITGB6	DOID:2187	Amelogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000283249	ITGB6	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000283254	SCN3A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000283285	CD96	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000283646	RPIA	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000283871	HGD	DOID:9270	Alkaptonuria	MedlinePlus	CURATED	5
ENSP00000283882	CFDP1	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000283928	JAZF1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000284061	DGKE	DOID:12554	hemolytic-uremic syndrome	UniProtKB-KW	CURATED	4
ENSP00000284136	SEMA3D	DOID:10487	Hirschsprung's disease	MedlinePlus	CURATED	5
ENSP00000284154	GRAP	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000284268	ANKH	DOID:0080033	Craniometaphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000284274	OTULIN	DOID:0080163	Otulipenia	MedlinePlus	CURATED	5
ENSP00000284292	NRGN	DOID:0111723	Jacobsen Syndrome	MedlinePlus	CURATED	5
ENSP00000284382	CERS3	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000284440	UCHL1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000284440	UCHL1	DOID:14330	Parkinson's disease	MedlinePlus	CURATED	5
ENSP00000284440	UCHL1	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000284440	UCHL1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000284476	DISP1	DOID:4621	Holoprosencephaly	MedlinePlus	CURATED	5
ENSP00000284601	PPP1R3A	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000284669	KLHL41	DOID:3191	Nemaline myopathy	MedlinePlus	CURATED	5
ENSP00000284669	KLHL41	DOID:3191	Nemaline myopathy	UniProtKB-KW	CURATED	4
ENSP00000284694	C10orf90	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000284727	ATP5MC3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000284727	ATP5MC3	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000284727	ATP5MC3	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000284981	APP	DOID:0070027	CST3-related cerebral amyloid angiopathy	MedlinePlus	CURATED	5
ENSP00000284981	APP	DOID:0070028	APP-related cerebral amyloid angiopathy	AmyCo	CURATED	4
ENSP00000284981	APP	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000284981	APP	DOID:10652	Alzheimer's disease	AmyCo	CURATED	4
ENSP00000284981	APP	DOID:10652	Alzheimer's disease	MedlinePlus	CURATED	5
ENSP00000284981	APP	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000284981	APP	DOID:12217	Lewy body dementia	AmyCo	CURATED	4
ENSP00000284981	APP	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000284981	APP	DOID:14250	Down syndrome	AmyCo	CURATED	3
ENSP00000284981	APP	DOID:4249	Gerstmann-Straussler-Scheinker syndrome	AmyCo	CURATED	4
ENSP00000284981	APP	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000284995	TSEN2	DOID:0060264	Pontocerebellar hypoplasia	MedlinePlus	CURATED	5
ENSP00000284995	TSEN2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000285021	XPC	DOID:0050427	Xeroderma pigmentosum	MedlinePlus	CURATED	5
ENSP00000285039	MYO5B	DOID:0060775	Microvillus inclusion disease	MedlinePlus	CURATED	5
ENSP00000285039	MYO5B	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000285071	FLCN	DOID:0080218	Primary spontaneous pneumothorax	MedlinePlus	CURATED	5
ENSP00000285379	CA2	DOID:13533	Osteopetrosis	MedlinePlus	CURATED	5
ENSP00000285379	CA2	DOID:13533	Osteopetrosis	UniProtKB-KW	CURATED	4
ENSP00000285398	ERCC3	DOID:0050427	Xeroderma pigmentosum	MedlinePlus	CURATED	5
ENSP00000285398	ERCC3	DOID:0111866	Trichothiodystrophy	MedlinePlus	CURATED	5
ENSP00000285398	ERCC3	DOID:2962	Cockayne syndrome	UniProtKB-KW	CURATED	4
ENSP00000285420	OTUD6B	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000286063	PDE11A	DOID:0111622	ACTH-independent macronodular adrenal hyperplasia	MedlinePlus	CURATED	5
ENSP00000286063	PDE11A	DOID:12252	DOID:12252	UniProtKB-KW	CURATED	4
ENSP00000286186	CASP10	DOID:6688	Autoimmune lymphoproliferative syndrome	MedlinePlus	CURATED	5
ENSP00000286298	SLC26A2	DOID:0080043	Achondrogenesis	MedlinePlus	CURATED	5
ENSP00000286298	SLC26A2	DOID:12721	Multiple epiphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000286298	SLC26A2	DOID:14687	Diastrophic dysplasia	MedlinePlus	CURATED	5
ENSP00000286301	CSF1R	DOID:0080523	adult-onset leukoencephalopathy with axonal spheroids and pigmented glia	MedlinePlus	CURATED	5
ENSP00000286301	CSF1R	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000286301	CSF1R	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000286307	LSM11	DOID:0050629	Aicardi-Goutieres syndrome	MedlinePlus	CURATED	5
ENSP00000286307	LSM11	DOID:0050629	Aicardi-Goutieres syndrome	UniProtKB-KW	CURATED	4
ENSP00000286364	RASA2	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000286479	NAT2	DOID:0060390	Distal 10q deletion syndrome	MedlinePlus	CURATED	5
ENSP00000286548	GNAQ	DOID:0111563	Sturge-Weber syndrome	MedlinePlus	CURATED	5
ENSP00000286628	KCNMA1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000286688	C8orf37	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000286688	C8orf37	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000286688	C8orf37	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000286692	DRAM2	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000286692	DRAM2	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000286827	TIAM1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000286835	SCAF4	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000287020	GDF6	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000287020	GDF6	DOID:10426	Klippel-Feil syndrome	MedlinePlus	CURATED	5
ENSP00000287020	GDF6	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000287020	GDF6	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000287020	GDF6	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000287020	GDF6	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000287020	GDF6	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000287139	NODAL	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000287139	NODAL	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000287139	NODAL	DOID:4621	Holoprosencephaly	MedlinePlus	CURATED	5
ENSP00000287239	KAT6B	DOID:0060290	Ohdo syndrome,  SBBYS variant	MedlinePlus	CURATED	5
ENSP00000287239	KAT6B	DOID:0111044	Gray platelet syndrome	MedlinePlus	CURATED	5
ENSP00000287239	KAT6B	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000287295	AIFM1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000287295	AIFM1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000287295	AIFM1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000287295	AIFM1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000287295	AIFM1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000287482	SASS6	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000287538	ZIC3	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000287538	ZIC3	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000287598	BUB1B	DOID:0080688	Mosaic variegated aneuploidy syndrome	MedlinePlus	CURATED	5
ENSP00000287598	BUB1B	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000287600	PDE6D	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000287600	PDE6D	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000287647	FANCD2	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000287647	FANCD2	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000287777	KLHL40	DOID:3191	Nemaline myopathy	MedlinePlus	CURATED	5
ENSP00000287777	KLHL40	DOID:3191	Nemaline myopathy	UniProtKB-KW	CURATED	4
ENSP00000287820	PPARG	DOID:0050440	Familial partial lipodystrophy	MedlinePlus	CURATED	5
ENSP00000287820	PPARG	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000287820	PPARG	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000287842	NRG1	DOID:10487	Hirschsprung's disease	MedlinePlus	CURATED	5
ENSP00000287842	NRG1	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000287878	PRKAG2	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000287878	PRKAG2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000287878	PRKAG2	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000287878	PRKAG2	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000287878	PRKAG2	DOID:384	Wolff-Parkinson-White syndrome	MedlinePlus	CURATED	5
ENSP00000287936	HMGCR	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000287957	GATAD1	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000287957	GATAD1	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000288078	FCSK	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000288135	KIT	DOID:0080796	Core binding factor acute myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000288135	KIT	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000288135	KIT	DOID:3263	Piebaldism	MedlinePlus	CURATED	5
ENSP00000288135	KIT	DOID:349	Systemic mastocytosis	MedlinePlus	CURATED	5
ENSP00000288135	KIT	DOID:9253	Gastrointestinal stromal tumor	MedlinePlus	CURATED	5
ENSP00000288139	CACNA1D	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000288266	APPL1	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000288266	APPL1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000288710	DRC1	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000288710	DRC1	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000288774	PEX10	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000288774	PEX10	DOID:905	Zellweger syndrome	UniProtKB-KW	CURATED	4
ENSP00000288774	PEX10	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000288840	SMAD6	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000288955	GRHL3	DOID:0060239	Van der Woude syndrome	MedlinePlus	CURATED	5
ENSP00000289004	HPD	DOID:9275	Tyrosinemia	MedlinePlus	CURATED	5
ENSP00000289081	FANCC	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000289081	FANCC	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000289272	PCDHA13	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000289473	NCF1	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000289473	NCF1	DOID:3265	Chronic granulomatous disease	MedlinePlus	CURATED	5
ENSP00000289473	NCF1	DOID:3265	Chronic granulomatous disease	UniProtKB-KW	CURATED	4
ENSP00000289672	PKD1L1	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000290155	CFAP298	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000290155	CFAP298	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000290167	WNT4	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000290167	WNT4	DOID:0111526	Mullerian aplasia and hyperandrogenism	MedlinePlus	CURATED	5
ENSP00000290200	IL10RB	DOID:8577	Ulcerative colitis	MedlinePlus	CURATED	5
ENSP00000290277	ARAF	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000290277	ARAF	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000290295	HOXB13	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000290310	KCNE2	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000290310	KCNE2	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000290310	KCNE2	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000290378	ACTC1	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000290378	ACTC1	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000290378	ACTC1	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000290378	ACTC1	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000290378	ACTC1	DOID:1882	Atrial heart septal defect	UniProtKB-KW	CURATED	4
ENSP00000290378	ACTC1	DOID:397	Restrictive cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000290524	RFX5	DOID:5812	MHC class II deficiency	MedlinePlus	CURATED	5
ENSP00000290524	RFX5	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000290649	AMFR	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000290649	AMFR	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000290953	AGRP	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000291041	PSKH1	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000291232	TNFRSF13C	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000291295	CALM3	DOID:0060674	Catecholaminergic polymorphic ventricular tachycardia	MedlinePlus	CURATED	5
ENSP00000291295	CALM3	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000291295	CALM3	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000291536	RSPH1	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000291536	RSPH1	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000291554	CRYAA	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000291554	CRYAA	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000291554	CRYAA	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000291560	HSF2BP	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000291565	PDXK	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000291565	PDXK	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000291565	PDXK	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000291568	CSTB	DOID:0111452	Progressive myoclonus epilepsy 1A	MedlinePlus	CURATED	5
ENSP00000291568	CSTB	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000291568	CSTB	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000291574	TRAPPC10	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000291582	AIRE	DOID:0050167	Autoimmune polyendocrine syndrome type 1	MedlinePlus	CURATED	5
ENSP00000291582	AIRE	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000291688	MCM3AP	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000291688	MCM3AP	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000292035	MED27	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000292114	TMEM199	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000292147	ETHE1	DOID:0060640	Ethylmalonic encephalopathy	MedlinePlus	CURATED	5
ENSP00000292147	ETHE1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000292246	ANO10	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000292303	CCR5	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000292303	CCR5	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000292401	AZGP1	AmyCo:17	Apolipoprotein A-I associated Amyloidosis	AmyCo	CURATED	4
ENSP00000292408	FGFR4	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000292431	NACC1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000292782	DCUN1D1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000292823	PCYT1A	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000292823	PCYT1A	DOID:0050585	Congenital generalized lipodystrophy	UniProtKB-KW	CURATED	4
ENSP00000292823	PCYT1A	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000293217	ACOX1	DOID:0050797	Peroxisomal acyl-CoA oxidase deficiency	MedlinePlus	CURATED	5
ENSP00000293217	ACOX1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000293288	BAX	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000293328	STAT5B	DOID:0060318	Acute promyelocytic leukemia	MedlinePlus	CURATED	5
ENSP00000293404	NAGS	DOID:0112258	N-acetylglutamate synthase deficiency	MedlinePlus	CURATED	5
ENSP00000293549	WNT1	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000293549	WNT1	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000293549	WNT1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000293599	AQP5	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000293670	KRT83	DOID:0050467	Erythrokeratodermia variabilis	MedlinePlus	CURATED	5
ENSP00000293670	KRT83	DOID:0050472	Monilethrix	MedlinePlus	CURATED	5
ENSP00000293670	KRT83	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000293760	LEMD2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000293777	MED11	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000293777	MED11	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000293860	POLR3K	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000293860	POLR3K	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000293889	CCDC78	DOID:14717	Centronuclear myopathy	MedlinePlus	CURATED	5
ENSP00000294008	SLX4	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000294008	SLX4	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000294053	CLPB	DOID:0110003	3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia	MedlinePlus	CURATED	5
ENSP00000294053	CLPB	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000294053	CLPB	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000294129	NCKIPSD	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000294179	STX5	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000294288	CABP2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000294288	CABP2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000294304	LRP5	DOID:0050535	Exudative vitreoretinopathy	MedlinePlus	CURATED	5
ENSP00000294304	LRP5	DOID:0060849	osteoporosis-pseudoglioma syndrome	MedlinePlus	CURATED	5
ENSP00000294304	LRP5	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000294304	LRP5	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000294304	LRP5	DOID:12559	Idiopathic juvenile osteoporosis	MedlinePlus	CURATED	5
ENSP00000294304	LRP5	DOID:13533	Osteopetrosis	UniProtKB-KW	CURATED	4
ENSP00000294309	TPCN2	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000294339	TAL1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000294618	DOCK6	DOID:0060227	Adams-Oliver syndrome	MedlinePlus	CURATED	5
ENSP00000294702	GFI1	DOID:0050590	Severe congenital neutropenia	MedlinePlus	CURATED	5
ENSP00000294724	AGL	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000294724	AGL	DOID:2748	Glycogen storage disease III	MedlinePlus	CURATED	5
ENSP00000294725	KCNT2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000294785	NCSTN	DOID:2280	Hidradenitis suppurativa	MedlinePlus	CURATED	5
ENSP00000294954	LHCGR	DOID:0111545	Familial male-limited precocious puberty	MedlinePlus	CURATED	5
ENSP00000294954	LHCGR	DOID:0112259	Leydig cell hypoplasia	MedlinePlus	CURATED	5
ENSP00000294954	LHCGR	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000295025	REL	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000295030	PEX13	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000295030	PEX13	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000295108	NEUROD1	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000295108	NEUROD1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000295240	BBS5	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000295240	BBS5	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000295240	BBS5	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000295408	MERTK	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000295408	MERTK	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000295408	MERTK	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000295452	GABRG1	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000295454	GABRB1	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000295454	GABRB1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000295454	GABRB1	DOID:5418	Schizoaffective disorder	MedlinePlus	CURATED	5
ENSP00000295550	COL6A3	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000295550	COL6A3	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000295550	COL6A3	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000295588	POGLUT1	DOID:0060256	Dowling-Degos disease	MedlinePlus	CURATED	5
ENSP00000295588	POGLUT1	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000295588	POGLUT1	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000295619	PROK2	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000295619	PROK2	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000295619	PROK2	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000295709	STK36	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000295709	STK36	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000295718	PTPRN	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000295727	FEV	DOID:3369	Ewing sarcoma	MedlinePlus	CURATED	5
ENSP00000295728	CRYBA2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000295770	STT3B	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000295777	SERPINI1	DOID:0050831	Familial encephalopathy with neuroserpin inclusion bodies	MedlinePlus	CURATED	5
ENSP00000295777	SERPINI1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000295797	PRKCI	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000295888	WDFY3	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000295897	ALB	AmyCo:17	Apolipoprotein A-I associated Amyloidosis	AmyCo	CURATED	4
ENSP00000295900	ATXN7	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000295900	ATXN7	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000295926	CCNL1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000295987	SYN1	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000295987	SYN1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000296043	SHROOM3	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000296051	HPS3	DOID:3753	Hermansky-Pudlak syndrome	MedlinePlus	CURATED	5
ENSP00000296051	HPS3	DOID:3753	Hermansky-Pudlak syndrome	UniProtKB-KW	CURATED	4
ENSP00000296135	LZTFL1	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000296135	LZTFL1	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000296137	FYCO1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000296145	TDGF1	DOID:4621	Holoprosencephaly	MedlinePlus	CURATED	5
ENSP00000296215	SNIP1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000296252	LIPH	DOID:0110703	Hypotrichosis 6	MedlinePlus	CURATED	5
ENSP00000296252	LIPH	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000296266	IFT122	DOID:0050577	Cranioectodermal dysplasia	MedlinePlus	CURATED	5
ENSP00000296271	RHO	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000296271	RHO	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000296271	RHO	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000296280	MASP1	DOID:0060225	3MC syndrome	MedlinePlus	CURATED	5
ENSP00000296292	RFT1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000296318	IL17RD	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000296318	IL17RD	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000296318	IL17RD	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000296327	SLC51A	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000296343	RUBCN	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000296387	CLDN19	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000296484	POC1A	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000296526	GRIA2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000296589	SLC45A2	DOID:0050632	Oculocutaneous albinism	MedlinePlus	CURATED	5
ENSP00000296589	SLC45A2	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000296597	NDUFAF2	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000296597	NDUFAF2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000296684	NDUFS4	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000296684	NDUFS4	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000296694	SCGB3A2	DOID:12361	Graves' disease	MedlinePlus	CURATED	5
ENSP00000296754	ERAP1	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000296755	MAP1B	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000296755	MAP1B	DOID:14330	Parkinson's disease	AmyCo	CURATED	4
ENSP00000296777	CARTPT	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000296795	TLR3	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000296930	NPM1	DOID:0060318	Acute promyelocytic leukemia	MedlinePlus	CURATED	5
ENSP00000296930	NPM1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000296946	TBXT	DOID:3302	Chordoma	MedlinePlus	CURATED	5
ENSP00000297135	COG5	DOID:0070261	Congenital disorder of glycosylation type IIi	MedlinePlus	CURATED	5
ENSP00000297135	COG5	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000297156	CAMLG	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000297157	RP9	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000297157	RP9	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000297261	SHH	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000297261	SHH	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000297261	SHH	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000297261	SHH	DOID:4621	Holoprosencephaly	MedlinePlus	CURATED	5
ENSP00000297261	SHH	DOID:4621	Holoprosencephaly	UniProtKB-KW	CURATED	4
ENSP00000297268	COL1A2	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000297268	COL1A2	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000297268	COL1A2	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000297268	COL1A2	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000297283	PGAM2	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000297316	SOX17	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000297323	ADCY1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000297323	ADCY1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000297338	RAD21	DOID:11725	Cornelia de Lange syndrome	MedlinePlus	CURATED	5
ENSP00000297338	RAD21	DOID:4998	Trichorhinophalangeal syndrome type II	MedlinePlus	CURATED	5
ENSP00000297350	TNFRSF11B	DOID:0081368	Paget's disease of bone 5	MedlinePlus	CURATED	5
ENSP00000297350	TNFRSF11B	DOID:5408	Paget's disease of bone	MedlinePlus	CURATED	5
ENSP00000297440	DNAAF5	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000297440	DNAAF5	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000297494	NOS3	DOID:10763	Hypertension	MedlinePlus	CURATED	5
ENSP00000297494	NOS3	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000297679	HSD3B7	DOID:0050674	Congenital bile acid synthesis defect	MedlinePlus	CURATED	5
ENSP00000297679	HSD3B7	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000297770	CPA6	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000297837	ANKS6	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000297837	ANKS6	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000297873	METTL27	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000298130	SPTSSA	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000298130	SPTSSA	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000298139	WRN	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000298139	WRN	DOID:5688	Werner syndrome	MedlinePlus	CURATED	5
ENSP00000298159	CFL2	DOID:3191	Nemaline myopathy	MedlinePlus	CURATED	5
ENSP00000298159	CFL2	DOID:3191	Nemaline myopathy	UniProtKB-KW	CURATED	4
ENSP00000298229	INPPL1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000298231	PHOX2A	DOID:0080143	Congenital fibrosis of the extraocular muscles	MedlinePlus	CURATED	5
ENSP00000298251	HEPACAM	DOID:0080315	Megalencephalic leukoencephalopathy with subcortical cysts	MedlinePlus	CURATED	5
ENSP00000298292	DNAAF2	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000298292	DNAAF2	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000298310	NEMF	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000298351	TMEM63C	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000298351	TMEM63C	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000298510	PRDX3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000298542	FRMD7	DOID:0111790	Congenital nystagmus 1	MedlinePlus	CURATED	5
ENSP00000298552	TSC1	DOID:13515	Tuberous sclerosis	MedlinePlus	CURATED	5
ENSP00000298552	TSC1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000298552	TSC1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000298552	TSC1	DOID:3319	Lymphangioleiomyomatosis	MedlinePlus	CURATED	5
ENSP00000298552	TSC1	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000298556	HPRT1	DOID:13189	Gout	UniProtKB-KW	CURATED	4
ENSP00000298556	HPRT1	DOID:1919	Lesch-Nyhan syndrome	MedlinePlus	CURATED	5
ENSP00000298832	TTLL5	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000298832	TTLL5	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000298854	RAPSN	DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome	MedlinePlus	CURATED	5
ENSP00000298854	RAPSN	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000298854	RAPSN	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000298910	LRRK2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000298910	LRRK2	DOID:14330	Parkinson's disease	MedlinePlus	CURATED	5
ENSP00000298910	LRRK2	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000298910	LRRK2	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000299022	LIPC	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000299084	SPRED1	DOID:0070484	Legius syndrome	MedlinePlus	CURATED	5
ENSP00000299138	VPS35	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000299138	VPS35	DOID:14330	Parkinson's disease	MedlinePlus	CURATED	5
ENSP00000299138	VPS35	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000299155	AMN	DOID:13382	Megaloblastic anemia	MedlinePlus	CURATED	5
ENSP00000299178	AVPR1A	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000299192	HEATR3	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000299238	HPS6	DOID:3753	Hermansky-Pudlak syndrome	MedlinePlus	CURATED	5
ENSP00000299238	HPS6	DOID:3753	Hermansky-Pudlak syndrome	UniProtKB-KW	CURATED	4
ENSP00000299314	GNPTAB	DOID:0080070	Mucolipidosis II alpha/beta	MedlinePlus	CURATED	5
ENSP00000299314	GNPTAB	DOID:0080071	Mucolipidosis III alpha/beta	MedlinePlus	CURATED	5
ENSP00000299314	GNPTAB	DOID:3343	Glycoproteinosis	UniProtKB-KW	CURATED	4
ENSP00000299367	C2	DOID:0060295	Complement component 2 deficiency	MedlinePlus	CURATED	5
ENSP00000299367	C2	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000299367	C2	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000299427	TPP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000299427	TPP1	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000299427	TPP1	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000299427	TPP1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000299440	RAG1	DOID:0060010	Omenn syndrome	MedlinePlus	CURATED	5
ENSP00000299440	RAG1	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000299518	IDH3A	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000299608	TMX3	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000299608	TMX3	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000299626	ALG8	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000299697	TK2	DOID:0080120	Mitochondrial DNA depletion syndrome 2	MedlinePlus	CURATED	5
ENSP00000299697	TK2	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
ENSP00000299697	TK2	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000299698	A2ML1	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000299766	MC4R	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000299886	COG1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000300026	PPIB	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000300026	PPIB	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000300055	PLIN1	DOID:0050440	Familial partial lipodystrophy	MedlinePlus	CURATED	5
ENSP00000300061	SCNN1G	DOID:0050477	Liddle syndrome	MedlinePlus	CURATED	5
ENSP00000300305	RUNX1	DOID:0080796	Core binding factor acute myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000300305	RUNX1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000300305	RUNX1	DOID:349	Systemic mastocytosis	MedlinePlus	CURATED	5
ENSP00000300305	RUNX1	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000300452	COQ4	DOID:0050730	Coenzyme Q10 deficiency disease	MedlinePlus	CURATED	5
ENSP00000300452	COQ4	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000300527	COL6A2	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000300527	COL6A2	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000300574	CRK	DOID:0060469	Miller-Dieker lissencephaly syndrome	MedlinePlus	CURATED	5
ENSP00000300574	CRK	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000300589	NOD2	DOID:0050678	Blau syndrome	MedlinePlus	CURATED	5
ENSP00000300589	NOD2	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000300692	CD3D	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000300738	RRM1	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000300900	CA4	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000300900	CA4	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000300935	RAB8A	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000301015	PIEZO1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000301019	CDT1	DOID:0060306	Meier-Gorlin syndrome	MedlinePlus	CURATED	5
ENSP00000301019	CDT1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000301030	ANKRD11	DOID:11725	Cornelia de Lange syndrome	MedlinePlus	CURATED	5
ENSP00000301030	ANKRD11	DOID:14780	KBG syndrome	MedlinePlus	CURATED	5
ENSP00000301067	KMT2D	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000301067	KMT2D	DOID:0060473	Kabuki syndrome	MedlinePlus	CURATED	5
ENSP00000301067	KMT2D	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000301067	KMT2D	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000301067	KMT2D	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000301141	CYP2A6	DOID:0080665	Warfarin resistance	MedlinePlus	CURATED	5
ENSP00000301178	AXL	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000301178	AXL	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000301215	ZNF526	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000301365	TRPV3	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000301653	KRT16	DOID:0050449	Pachyonychia congenita	MedlinePlus	CURATED	5
ENSP00000301653	KRT16	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000301691	SOST	DOID:0080036	SOST-related sclerosing bone dysplasia	MedlinePlus	CURATED	5
ENSP00000301732	ABCA3	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000301732	ABCA3	DOID:0080796	Core binding factor acute myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000301732	ABCA3	DOID:14250	Down syndrome	MedlinePlus	CURATED	5
ENSP00000301838	FADD	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000301873	LTBP3	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000301908	PNOC	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000301945	ANTXR1	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000302150	PRL	DOID:5394	Prolactinoma	AmyCo	CURATED	4
ENSP00000302216	ATOH1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000302478	POLR1D	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000302478	POLR1D	DOID:2908	Treacher Collins syndrome	MedlinePlus	CURATED	5
ENSP00000302486	MAP2K1	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000302486	MAP2K1	DOID:0060233	Cardiofaciocutaneous syndrome	MedlinePlus	CURATED	5
ENSP00000302486	MAP2K1	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000302486	MAP2K1	DOID:14291	Noonan syndrome with multiple lentigines	MedlinePlus	CURATED	5
ENSP00000302486	MAP2K1	DOID:2571	Langerhans-cell histiocytosis	MedlinePlus	CURATED	5
ENSP00000302486	MAP2K1	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000302486	MAP2K1	DOID:4253	Melorheostosis	MedlinePlus	CURATED	5
ENSP00000302530	BUB1	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000302620	AGXT	DOID:2977	Primary hyperoxaluria	MedlinePlus	CURATED	5
ENSP00000302640	UBTF	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000302648	NRTN	DOID:10487	Hirschsprung's disease	MedlinePlus	CURATED	5
ENSP00000302648	NRTN	DOID:10487	Hirschsprung's disease	UniProtKB-KW	CURATED	4
ENSP00000302728	GUSB	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000302728	GUSB	DOID:12803	Sly syndrome	MedlinePlus	CURATED	5
ENSP00000302846	PTGER4	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000302898	AURKC	DOID:0070183	Spermatogenic failure 5	MedlinePlus	CURATED	5
ENSP00000302935	IL16	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000303058	CEP120	DOID:0050592	Asphyxiating thoracic dystrophy	MedlinePlus	CURATED	5
ENSP00000303058	CEP120	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000303158	CCDC8	DOID:0060241	3-M syndrome	MedlinePlus	CURATED	5
ENSP00000303208	PCSK9	DOID:13810	Familial hypercholesterolemia	MedlinePlus	CURATED	5
ENSP00000303208	PCSK9	DOID:1386	Abetalipoproteinemia	MedlinePlus	CURATED	5
ENSP00000303325	TACR3	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000303356	DCXR	DOID:0111258	Pentosuria	MedlinePlus	CURATED	5
ENSP00000303394	HSPB3	DOID:0111206	Autosomal dominant distal hereditary motor neuronopathy 2	MedlinePlus	CURATED	5
ENSP00000303394	HSPB3	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000303394	HSPB3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000303394	HSPB3	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000303424	PTGDR	DOID:2841	Asthma	UniProtKB-KW	CURATED	4
ENSP00000303507	BCR	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000303507	BCR	DOID:8552	Chronic myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000303511	PEX6	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000303511	PEX6	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000303511	PEX6	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000303540	SCN1A	DOID:0050561	Lennox-Gastaut syndrome	MedlinePlus	CURATED	5
ENSP00000303540	SCN1A	DOID:0060170	Generalized epilepsy with febrile seizures plus	MedlinePlus	CURATED	5
ENSP00000303540	SCN1A	DOID:0060178	Familial hemiplegic migraine	MedlinePlus	CURATED	5
ENSP00000303540	SCN1A	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000303540	SCN1A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000303830	INSR	DOID:0050470	Donohue syndrome	MedlinePlus	CURATED	5
ENSP00000303830	INSR	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000303830	INSR	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000303942	GP9	DOID:2217	Bernard-Soulier syndrome	MedlinePlus	CURATED	5
ENSP00000303942	GP9	DOID:2217	Bernard-Soulier syndrome	UniProtKB-KW	CURATED	4
ENSP00000303978	SYCE1	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000303992	TMEM43	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000303992	TMEM43	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000303992	TMEM43	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000303992	TMEM43	DOID:11726	Emery-Dreifuss muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000303992	TMEM43	DOID:11726	Emery-Dreifuss muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000303992	TMEM43	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000304078	FAM83B	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000304229	HINT1	DOID:0050526	Gamstorp-Wohlfart syndrome	MedlinePlus	CURATED	5
ENSP00000304229	HINT1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000304229	HINT1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000304283	RAC3	DOID:0060254	Robinow syndrome	MedlinePlus	CURATED	5
ENSP00000304290	CHRNB1	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000304290	CHRNB1	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000304364	C1GALT1C1	DOID:12554	hemolytic-uremic syndrome	UniProtKB-KW	CURATED	4
ENSP00000304408	COL3A1	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000304408	COL3A1	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000304408	COL3A1	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000304502	SIX2	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000304553	MPLKIP	DOID:0111866	Trichothiodystrophy	MedlinePlus	CURATED	5
ENSP00000304642	RETREG1	DOID:0070161	Hereditary sensory and autonomic neuropathy type 2	MedlinePlus	CURATED	5
ENSP00000304642	RETREG1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000304642	RETREG1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000304669	CTNNA1	DOID:0080764	Hereditary diffuse gastric cancer	MedlinePlus	CURATED	5
ENSP00000304689	THAP11	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000304689	THAP11	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000304689	THAP11	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000304783	SLC26A5	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000304783	SLC26A5	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000304802	DTYMK	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000304845	UGT1A1	DOID:0080665	Warfarin resistance	MedlinePlus	CURATED	5
ENSP00000304845	UGT1A1	DOID:2739	Gilbert syndrome	MedlinePlus	CURATED	5
ENSP00000304845	UGT1A1	DOID:3803	Crigler-Najjar syndrome	MedlinePlus	CURATED	5
ENSP00000304895	IRS1	DOID:11714	Gestational diabetes	MedlinePlus	CURATED	5
ENSP00000304895	IRS1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000304915	IL13	DOID:9008	Psoriatic arthritis	MedlinePlus	CURATED	5
ENSP00000304915	IL13	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000304941	TCTN2	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000304987	BFSP2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000305071	RFXANK	DOID:5812	MHC class II deficiency	MedlinePlus	CURATED	5
ENSP00000305071	RFXANK	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000305302	SLC6A19	DOID:1060	Hartnup disease	MedlinePlus	CURATED	5
ENSP00000305372	ADRB2	DOID:631	Fibromyalgia	MedlinePlus	CURATED	5
ENSP00000305426	TUB	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000305442	COG7	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000305494	SPATA5L1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000305494	SPATA5L1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000305613	CPLX1	DOID:0050460	Wolf-Hirschhorn syndrome	MedlinePlus	CURATED	5
ENSP00000305613	CPLX1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000305632	HOMER2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000305632	HOMER2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000305653	LETM1	DOID:0050460	Wolf-Hirschhorn syndrome	MedlinePlus	CURATED	5
ENSP00000305653	LETM1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000305682	MRPL39	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000305692	GAA	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000305692	GAA	DOID:2752	Glycogen storage disease II	MedlinePlus	CURATED	5
ENSP00000305714	BMP1	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000305714	BMP1	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000305742	LRTOMT	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000305742	LRTOMT	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000305941	USH2A	DOID:0050439	Usher syndrome	MedlinePlus	CURATED	5
ENSP00000305941	USH2A	DOID:0050439	Usher syndrome	UniProtKB-KW	CURATED	4
ENSP00000305941	USH2A	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000305941	USH2A	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000306099	FGB	DOID:2236	Congenital afibrinogenemia	MedlinePlus	CURATED	5
ENSP00000306129	DRD5	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000306157	IL7R	DOID:0060010	Omenn syndrome	MedlinePlus	CURATED	5
ENSP00000306157	IL7R	DOID:2377	Multiple sclerosis	MedlinePlus	CURATED	5
ENSP00000306157	IL7R	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000306185	ANTXR2	DOID:0111669	Hyaline fibromatosis syndrome	MedlinePlus	CURATED	5
ENSP00000306245	FOS	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000306253	ITPR1	DOID:0111578	Gillespie syndrome	MedlinePlus	CURATED	5
ENSP00000306253	ITPR1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000306253	ITPR1	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000306275	KCNK3	DOID:14557	Primary pulmonary hypertension	MedlinePlus	CURATED	5
ENSP00000306320	GON7	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000306330	YWHAG	DOID:14330	Parkinson's disease	AmyCo	CURATED	4
ENSP00000306330	YWHAG	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000306410	ARMC4	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000306606	ADH1B	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000306625	ASPSCR1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000306754	NEUROD2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000306788	ARL6IP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000306788	ARL6IP1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000306920	GLB1	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000306920	GLB1	DOID:2368	Gangliosidosis	UniProtKB-KW	CURATED	4
ENSP00000306920	GLB1	DOID:3322	GM1 gangliosidosis	MedlinePlus	CURATED	5
ENSP00000306983	YEATS2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000306997	MYOZ2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000306997	MYOZ2	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000306999	ESCO2	DOID:5325	Roberts syndrome	MedlinePlus	CURATED	5
ENSP00000307023	KLF11	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000307023	KLF11	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000307041	BNC1	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000307046	SDC2	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	AmyCo	CURATED	4
ENSP00000307046	SDC2	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000307134	CTNND2	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000307134	CTNND2	DOID:12580	Cri-Du-Chat syndrome	MedlinePlus	CURATED	5
ENSP00000307156	LAMB2	DOID:2590	Familial nephrotic syndrome	MedlinePlus	CURATED	5
ENSP00000307188	ASL	DOID:14755	Argininosuccinic aciduria	MedlinePlus	CURATED	5
ENSP00000307235	EIF2AK3	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000307240	KRT74	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000307241	PDHB	DOID:3649	Pyruvate decarboxylase deficiency	MedlinePlus	CURATED	5
ENSP00000307241	PDHB	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000307260	TBL2	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000307292	CAVIN3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000307297	CHST14	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000307297	CHST14	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000307342	HCN1	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000307342	HCN1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000307411	MLLT10	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000307423	MGAT2	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000307479	ARNT2	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000307549	NPTX1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000307567	QARS1	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000307567	QARS1	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000307567	QARS1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000307666	VPS50	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000307666	VPS50	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000307900	GLUL	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000307940	EEF2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000307940	EEF2	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000307959	DST	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000307959	DST	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000307959	DST	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000308024	PCSK1	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000308193	RNASEH2C	DOID:0050629	Aicardi-Goutieres syndrome	MedlinePlus	CURATED	5
ENSP00000308193	RNASEH2C	DOID:0050629	Aicardi-Goutieres syndrome	UniProtKB-KW	CURATED	4
ENSP00000308208	MMP14	DOID:0080696	Winchester syndrome	MedlinePlus	CURATED	5
ENSP00000308369	LEMD3	DOID:0111536	Buschke-Ollendorff syndrome	MedlinePlus	CURATED	5
ENSP00000308452	KRT17	DOID:0050449	Pachyonychia congenita	MedlinePlus	CURATED	5
ENSP00000308452	KRT17	DOID:0111556	Steatocystoma multiplex	MedlinePlus	CURATED	5
ENSP00000308452	KRT17	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000308541	F2	DOID:0080701	Prothrombin thrombophilia	MedlinePlus	CURATED	5
ENSP00000308541	F2	DOID:2235	Prothrombin deficiency	MedlinePlus	CURATED	5
ENSP00000308541	F2	DOID:2452	Thrombophilia	UniProtKB-KW	CURATED	4
ENSP00000308597	DLEC1	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000308725	GABRB3	DOID:0050561	Lennox-Gastaut syndrome	MedlinePlus	CURATED	5
ENSP00000308725	GABRB3	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000308725	GABRB3	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000308725	GABRB3	DOID:1825	Childhood absence epilepsy	MedlinePlus	CURATED	5
ENSP00000308725	GABRB3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000308725	GABRB3	DOID:5418	Schizoaffective disorder	MedlinePlus	CURATED	5
ENSP00000308750	CBX2	DOID:14448	46,XY sex reversal	MedlinePlus	CURATED	5
ENSP00000308782	GP6	DOID:0111057	platelet-type bleeding disorder 11	MedlinePlus	CURATED	5
ENSP00000308895	SLC19A1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000308937	PMP22	DOID:0050540	Charcot-Marie-Tooth disease type 3	UniProtKB-KW	CURATED	4
ENSP00000308937	PMP22	DOID:0060843	Hereditary neuropathy with liability to pressure palsies	MedlinePlus	CURATED	5
ENSP00000308937	PMP22	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000308937	PMP22	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000308937	PMP22	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000308937	PMP22	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000308938	PLG	DOID:0111592	Plasminogen deficiency type I	MedlinePlus	CURATED	5
ENSP00000308938	PLG	DOID:14735	Hereditary angioedema	MedlinePlus	CURATED	5
ENSP00000308938	PLG	DOID:2452	Thrombophilia	UniProtKB-KW	CURATED	4
ENSP00000309092	GMPPB	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000309092	GMPPB	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000309092	GMPPB	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000309096	B4GAT1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000309096	B4GAT1	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000309096	B4GAT1	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000309126	NSUN5	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000309262	USP48	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000309334	RPL15	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000309334	RPL15	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000309338	CLCF1	DOID:0060294	cold-induced sweating syndrome	MedlinePlus	CURATED	5
ENSP00000309376	CD164	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000309430	PIGS	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000309457	VPS41	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000309457	VPS41	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000309572	TERT	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000309572	TERT	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000309572	TERT	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000309572	TERT	DOID:2729	Dyskeratosis congenita	MedlinePlus	CURATED	5
ENSP00000309572	TERT	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000309572	TERT	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000309591	PRKACA	DOID:12252	DOID:12252	UniProtKB-KW	CURATED	4
ENSP00000309595	TWNK	DOID:0050857	Perrault syndrome	MedlinePlus	CURATED	5
ENSP00000309595	TWNK	DOID:0080126	Mitochondrial DNA depletion syndrome 7	MedlinePlus	CURATED	5
ENSP00000309595	TWNK	DOID:0111276	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	MedlinePlus	CURATED	5
ENSP00000309595	TWNK	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
ENSP00000309595	TWNK	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000309595	TWNK	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000309595	TWNK	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000309606	ZNF408	DOID:0050535	Exudative vitreoretinopathy	MedlinePlus	CURATED	5
ENSP00000309606	ZNF408	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000309751	SLC16A13	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000309913	TBX5	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000309913	TBX5	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000309913	TBX5	DOID:0060468	Holt-Oram syndrome	MedlinePlus	CURATED	5
ENSP00000309953	EFEMP2	DOID:3144	Cutis laxa	MedlinePlus	CURATED	5
ENSP00000310208	SLC5A6	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000310208	SLC5A6	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000310244	RASGRP1	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000310244	RASGRP1	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000310375	MLC1	DOID:0080315	Megalencephalic leukoencephalopathy with subcortical cysts	MedlinePlus	CURATED	5
ENSP00000310459	AKIP1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000310490	SLC16A11	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000310520	ERCC4	DOID:0050427	Xeroderma pigmentosum	MedlinePlus	CURATED	5
ENSP00000310520	ERCC4	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000310520	ERCC4	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000310520	ERCC4	DOID:2962	Cockayne syndrome	UniProtKB-KW	CURATED	4
ENSP00000310557	KCNE3	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000310557	KCNE3	DOID:0050451	Brugada syndrome	UniProtKB-KW	CURATED	4
ENSP00000310561	ARHGAP32	DOID:0111723	Jacobsen Syndrome	MedlinePlus	CURATED	5
ENSP00000310573	KRT25	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000310670	CCAR2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000310721	CYP7B1	DOID:0110810	Hereditary spastic paraplegia 5A	MedlinePlus	CURATED	5
ENSP00000310721	CYP7B1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000310721	CYP7B1	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000310721	CYP7B1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000310722	MOS	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000310832	CTSF	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000310832	CTSF	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000310842	FANCI	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000310842	FANCI	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000310873	COQ2	DOID:0050730	Coenzyme Q10 deficiency disease	MedlinePlus	CURATED	5
ENSP00000310873	COQ2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000310873	COQ2	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000310873	COQ2	DOID:4752	Multiple system atrophy	MedlinePlus	CURATED	5
ENSP00000310880	MAL	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000311135	DHX37	DOID:14448	46,XY sex reversal	MedlinePlus	CURATED	5
ENSP00000311273	DNAH7	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000311273	DNAH7	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000311280	ELF4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000311290	PROP1	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000311344	PPP2R1B	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000311469	GSTM1	DOID:12169	Carpal tunnel syndrome	MedlinePlus	CURATED	5
ENSP00000311469	GSTM1	DOID:8881	Rosacea	MedlinePlus	CURATED	5
ENSP00000311505	IQCB1	DOID:0050576	Senior-Loken syndrome	MedlinePlus	CURATED	5
ENSP00000311505	IQCB1	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000311505	IQCB1	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000311505	IQCB1	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000311538	ARR3	DOID:11830	Myopia	MedlinePlus	CURATED	5
ENSP00000311684	SPEG	DOID:14717	Centronuclear myopathy	MedlinePlus	CURATED	5
ENSP00000311687	NIPAL4	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000311687	NIPAL4	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000311697	FGF5	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000311816	REST	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000311816	REST	DOID:2154	Nephroblastoma	MedlinePlus	CURATED	5
ENSP00000311857	PTPN2	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000311857	PTPN2	DOID:8577	Ulcerative colitis	MedlinePlus	CURATED	5
ENSP00000311899	DAW1	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000311899	DAW1	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000311905	LTBP4	DOID:3144	Cutis laxa	MedlinePlus	CURATED	5
ENSP00000311984	NAXD	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000311997	NEFH	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000311997	NEFH	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000311997	NEFH	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000311997	NEFH	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000311997	NEFH	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000311997	NEFH	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000312150	TRIB1	DOID:0080208	Metabolic dysfunction-associated steatotic liver disease	MedlinePlus	CURATED	5
ENSP00000312304	TPMT	DOID:0080172	Thiopurine S-methyltransferase deficiency	MedlinePlus	CURATED	5
ENSP00000312458	ARV1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000312618	ACAD9	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000312618	ACAD9	DOID:0112072	Nuclear type mitochondrial complex I deficiency 20	MedlinePlus	CURATED	5
ENSP00000312624	TCAP	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000312624	TCAP	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000312624	TCAP	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000312624	TCAP	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000312624	TCAP	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000312652	LEP	DOID:0111334	Congenital leptin deficiency	MedlinePlus	CURATED	5
ENSP00000312652	LEP	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000312652	LEP	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000312664	CASP2	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000312673	GH1	DOID:0060870	Isolated growth hormone deficiency	MedlinePlus	CURATED	5
ENSP00000312706	CCDC65	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000312706	CCDC65	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000312778	IFT80	DOID:0050592	Asphyxiating thoracic dystrophy	MedlinePlus	CURATED	5
ENSP00000312987	HNF4A	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000312987	HNF4A	DOID:13317	Hyperinsulinemic hypoglycemia	MedlinePlus	CURATED	5
ENSP00000312987	HNF4A	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000313121	SNX14	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000313121	SNX14	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000313169	NPHP1	DOID:0050576	Senior-Loken syndrome	MedlinePlus	CURATED	5
ENSP00000313169	NPHP1	DOID:0050576	Senior-Loken syndrome	UniProtKB-KW	CURATED	4
ENSP00000313169	NPHP1	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000313169	NPHP1	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000313169	NPHP1	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000313169	NPHP1	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000313172	BVES	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000313318	SLC35C1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000313350	RNASEH1	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
ENSP00000313350	RNASEH1	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000313377	PANK2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000313377	PANK2	DOID:3981	Pantothenate kinase-associated neurodegeneration	MedlinePlus	CURATED	5
ENSP00000313391	DAB2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000313419	CD19	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000313420	PRKDC	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000313432	GRHPR	DOID:2977	Primary hyperoxaluria	MedlinePlus	CURATED	5
ENSP00000313504	PHKB	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000313809	AMBN	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000313875	CD46	DOID:0080301	Atypical hemolytic-uremic syndrome	MedlinePlus	CURATED	5
ENSP00000313875	CD46	DOID:12554	hemolytic-uremic syndrome	UniProtKB-KW	CURATED	4
ENSP00000313877	TSFM	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000313877	TSFM	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000313881	MKRN3	DOID:0112308	Central precocious puberty	MedlinePlus	CURATED	5
ENSP00000313967	C1QB	DOID:11949	Creutzfeldt-Jakob disease	AmyCo	CURATED	4
ENSP00000313967	C1QB	DOID:14250	Down syndrome	AmyCo	CURATED	3
ENSP00000313983	NSD3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000314080	HIC1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000314116	TMEM107	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000314129	TFE3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000314173	SAMD12	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000314299	CFHR1	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000314299	CFHR1	DOID:12554	hemolytic-uremic syndrome	UniProtKB-KW	CURATED	4
ENSP00000314444	WDR35	DOID:0050577	Cranioectodermal dysplasia	MedlinePlus	CURATED	5
ENSP00000314444	WDR35	DOID:0050592	Asphyxiating thoracic dystrophy	MedlinePlus	CURATED	5
ENSP00000314484	MEIOB	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000314508	GBA	DOID:12217	Lewy body dementia	MedlinePlus	CURATED	5
ENSP00000314508	GBA	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000314508	GBA	DOID:14330	Parkinson's disease	MedlinePlus	CURATED	5
ENSP00000314508	GBA	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000314508	GBA	DOID:1926	Gaucher's disease	MedlinePlus	CURATED	5
ENSP00000314508	GBA	DOID:1926	Gaucher's disease	UniProtKB-KW	CURATED	4
ENSP00000314606	SGSH	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000314606	SGSH	DOID:12801	Mucopolysaccharidosis III	MedlinePlus	CURATED	5
ENSP00000314649	ALDH5A1	DOID:0060175	Succinic semialdehyde dehydrogenase deficiency	MedlinePlus	CURATED	5
ENSP00000314724	PPFIBP1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000314733	TOLLIP	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000314879	ALOXE3	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000315011	EDNRA	DOID:10763	Hypertension	MedlinePlus	CURATED	5
ENSP00000315011	EDNRA	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000315013	CRAT	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000315118	COQ8B	DOID:0050730	Coenzyme Q10 deficiency disease	MedlinePlus	CURATED	5
ENSP00000315130	CLU	DOID:0060449	Gelatinous drop-like corneal dystrophy	AmyCo	CURATED	4
ENSP00000315130	CLU	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	AmyCo	CURATED	4
ENSP00000315130	CLU	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000315130	CLU	DOID:10652	Alzheimer's disease	AmyCo	CURATED	4
ENSP00000315130	CLU	DOID:8943	Lattice corneal dystrophy	AmyCo	CURATED	4
ENSP00000315182	SHQ1	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000315190	ITGA3	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000315351	D2HGDH	DOID:0050573	2-hydroxyglutaric aciduria	MedlinePlus	CURATED	5
ENSP00000315371	ANO5	DOID:0070198	Miyoshi muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000315371	ANO5	DOID:0111533	Gnathodiaphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000315371	ANO5	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000315371	ANO5	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000315371	ANO5	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000315379	PRPF3	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000315379	PRPF3	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000315417	ALX1	DOID:0081044	Frontonasal dysplasia	MedlinePlus	CURATED	5
ENSP00000315417	ALX1	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000315644	TYMS	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000315659	DNMBP	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000315680	PEX7	DOID:10582	Refsum disease	MedlinePlus	CURATED	5
ENSP00000315680	PEX7	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000315680	PEX7	DOID:2580	Rhizomelic chondrodysplasia punctata	MedlinePlus	CURATED	5
ENSP00000315680	PEX7	DOID:2580	Rhizomelic chondrodysplasia punctata	UniProtKB-KW	CURATED	4
ENSP00000315680	PEX7	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000315680	PEX7	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000315774	NDUFS8	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000315774	NDUFS8	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000315775	COG4	DOID:0111673	Saul-Wilson syndrome	MedlinePlus	CURATED	5
ENSP00000315775	COG4	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000315988	DPY19L2	DOID:0111156	Spermatogenic failure 9	MedlinePlus	CURATED	5
ENSP00000316054	DVL3	DOID:0060254	Robinow syndrome	MedlinePlus	CURATED	5
ENSP00000316130	SYNE4	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000316130	SYNE4	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000316152	SFTPC	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000316329	SCD5	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000316335	FARS2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000316335	FARS2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000316335	FARS2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000316454	PACS1	DOID:0070047	Schuurs-Hoeijmakers Syndrome	MedlinePlus	CURATED	5
ENSP00000316476	DEGS1	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000316578	SUZ12	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000316605	CNGB3	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000316605	CNGB3	DOID:13911	Achromatopsia	MedlinePlus	CURATED	5
ENSP00000316605	CNGB3	DOID:4448	Macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000316649	OSBPL2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000316649	OSBPL2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000316775	TMEM270	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000316779	BIN1	DOID:14717	Centronuclear myopathy	MedlinePlus	CURATED	5
ENSP00000316842	SIX5	DOID:0060232	Branchiootic syndrome	MedlinePlus	CURATED	5
ENSP00000316842	SIX5	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000316909	SLC17A8	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000316909	SLC17A8	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000317123	SNRNP200	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000317123	SNRNP200	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000317159	CYC1	DOID:0111139	Mitochondrial complex III deficiency	MedlinePlus	CURATED	5
ENSP00000317232	FKBP10	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000317232	FKBP10	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000317272	MET	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000317272	MET	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000317272	MET	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000317272	MET	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000317272	MET	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000317331	SSR4	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000317334	TCP1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000317379	GLS	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000317379	GLS	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000317469	BBS1	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000317469	BBS1	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000317469	BBS1	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000317714	STX4	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000317780	COX5A	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000317902	CEP57	DOID:0080688	Mosaic variegated aneuploidy syndrome	MedlinePlus	CURATED	5
ENSP00000317904	GYS1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000318016	WASHC5	DOID:0110823	Hereditary spastic paraplegia 8	MedlinePlus	CURATED	5
ENSP00000318016	WASHC5	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000318016	WASHC5	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000318147	EDEM3	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000318176	PRKRA	DOID:0090048	Dystonia 16	MedlinePlus	CURATED	5
ENSP00000318176	PRKRA	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000318176	PRKRA	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000318298	TENT5A	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000318298	TENT5A	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000318318	MPI	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000318351	BCKDHB	DOID:9269	Maple syrup urine disease	MedlinePlus	CURATED	5
ENSP00000318351	BCKDHB	DOID:9269	Maple syrup urine disease	UniProtKB-KW	CURATED	4
ENSP00000318373	ZNF513	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000318373	ZNF513	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000318429	CCDC114	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000318629	VPS37A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000318629	VPS37A	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000318635	SUMO4	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000318635	SUMO4	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000318646	RPS15A	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000319118	GSX2	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000319476	ICOS	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000319476	ICOS	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000319501	UGDH	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000319531	GCSH	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000319591	KCND3	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000319591	KCND3	DOID:0050451	Brugada syndrome	UniProtKB-KW	CURATED	4
ENSP00000319591	KCND3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000319591	KCND3	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000319705	DUOXA2	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000319705	DUOXA2	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000319788	NQO1	DOID:0080665	Warfarin resistance	MedlinePlus	CURATED	5
ENSP00000319817	OPA3	DOID:0110004	3-methylglutaconic aciduria type 3	MedlinePlus	CURATED	5
ENSP00000319817	OPA3	DOID:0111433	Optic atrophy 3	MedlinePlus	CURATED	5
ENSP00000319817	OPA3	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000319883	ADGRE2	DOID:1554	Vibratory urticaria	MedlinePlus	CURATED	5
ENSP00000320025	CACNB2	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000320025	CACNB2	DOID:0050451	Brugada syndrome	UniProtKB-KW	CURATED	4
ENSP00000320147	EZH2	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000320147	EZH2	DOID:14731	Weaver syndrome	MedlinePlus	CURATED	5
ENSP00000320180	GHRHR	DOID:0060870	Isolated growth hormone deficiency	MedlinePlus	CURATED	5
ENSP00000320295	TUBB3	DOID:0080143	Congenital fibrosis of the extraocular muscles	MedlinePlus	CURATED	5
ENSP00000320416	VPS37D	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000320485	ARID1A	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000320485	ARID1A	DOID:1925	Coffin-Siris syndrome	MedlinePlus	CURATED	5
ENSP00000320485	ARID1A	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000320509	BANK1	DOID:418	Systemic scleroderma	MedlinePlus	CURATED	5
ENSP00000320509	BANK1	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000320821	KIF1C	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000320866	CALR	DOID:0060426	Chromosome 19p13.13 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000320866	CALR	DOID:2224	Essential thrombocythemia	MedlinePlus	CURATED	5
ENSP00000320866	CALR	DOID:4971	Myelofibrosis	MedlinePlus	CURATED	5
ENSP00000320885	SPAST	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000320885	SPAST	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000320886	MLXIPL	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000320935	SLC2A4	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000320935	SLC2A4	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000320949	CNOT1	DOID:4621	Holoprosencephaly	UniProtKB-KW	CURATED	4
ENSP00000321260	COX8A	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000321334	LPA	DOID:1936	Atherosclerosis	UniProtKB-KW	CURATED	4
ENSP00000321345	IL23R	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000321345	IL23R	DOID:8577	Ulcerative colitis	MedlinePlus	CURATED	5
ENSP00000321345	IL23R	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000321345	IL23R	DOID:9008	Psoriatic arthritis	MedlinePlus	CURATED	5
ENSP00000321348	DIAPH2	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000321427	KCNH5	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000321449	RRP7A	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000321636	TOP3A	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000321684	MEOX1	DOID:10426	Klippel-Feil syndrome	MedlinePlus	CURATED	5
ENSP00000321797	FGF8	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000321797	FGF8	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000321797	FGF8	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000321797	FGF8	DOID:4621	Holoprosencephaly	MedlinePlus	CURATED	5
ENSP00000321797	FGF8	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000321835	ETV4	DOID:3369	Ewing sarcoma	MedlinePlus	CURATED	5
ENSP00000321856	CRELD1	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000321856	CRELD1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000321987	TSPEAR	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000321987	TSPEAR	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000322020	SLC25A22	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000322020	SLC25A22	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000322181	DPM2	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000322181	DPM2	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000322251	TNNI3K	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000322304	PORCN	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000322304	PORCN	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000322304	PORCN	DOID:2120	Focal dermal hypoplasia	MedlinePlus	CURATED	5
ENSP00000322316	COQ7	DOID:0050730	Coenzyme Q10 deficiency disease	MedlinePlus	CURATED	5
ENSP00000322316	COQ7	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000322316	COQ7	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000322421	HBA1	DOID:1099	Alpha thalassemia	MedlinePlus	CURATED	5
ENSP00000322421	HBA1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000322460	SCN4B	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000322460	SCN4B	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000322460	SCN4B	DOID:2843	Long QT syndrome	MedlinePlus	CURATED	5
ENSP00000322460	SCN4B	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000322568	SOX11	DOID:1925	Coffin-Siris syndrome	MedlinePlus	CURATED	5
ENSP00000322775	RHBDF2	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000322832	ROGDI	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000322832	ROGDI	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000322937	LRSAM1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000322937	LRSAM1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000322937	LRSAM1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000322937	LRSAM1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000323046	EXOSC3	DOID:0060264	Pontocerebellar hypoplasia	MedlinePlus	CURATED	5
ENSP00000323046	EXOSC3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000323074	RAI1	DOID:0060768	Smith-Magenis syndrome	MedlinePlus	CURATED	5
ENSP00000323074	RAI1	DOID:0060853	Potocki-Lupski syndrome	MedlinePlus	CURATED	5
ENSP00000323076	NDUFAF3	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000323155	DAND5	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000323264	MARVELD2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000323264	MARVELD2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000323275	DNAAF4	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000323275	DNAAF4	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000323302	POC1B	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000323302	POC1B	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000323302	POC1B	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000323421	SMC1A	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000323421	SMC1A	DOID:11725	Cornelia de Lange syndrome	MedlinePlus	CURATED	5
ENSP00000323421	SMC1A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000323511	PNKP	DOID:0050755	Spinocerebellar ataxia with axonal neuropathy 2	MedlinePlus	CURATED	5
ENSP00000323511	PNKP	DOID:0080457	microcephaly, seizures, and developmental delay	MedlinePlus	CURATED	5
ENSP00000323511	PNKP	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000323511	PNKP	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000323511	PNKP	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000323588	SOX2	DOID:0060673	Peters anomaly	MedlinePlus	CURATED	5
ENSP00000323588	SOX2	DOID:0060857	Septooptic dysplasia	MedlinePlus	CURATED	5
ENSP00000323588	SOX2	DOID:0111801	Syndromic microphthalmia 3	MedlinePlus	CURATED	5
ENSP00000323588	SOX2	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000323588	SOX2	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000323588	SOX2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000323588	SOX2	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000323696	CRTAP	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000323696	CRTAP	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000323740	UCP3	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000323740	UCP3	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000323856	PLEC	DOID:0060733	Junctional epidermolysis bullosa with pyloric atresia	MedlinePlus	CURATED	5
ENSP00000323856	PLEC	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000323856	PLEC	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000323856	PLEC	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000323856	PLEC	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000323856	PLEC	DOID:4644	Epidermolysis bullosa simplex	MedlinePlus	CURATED	5
ENSP00000323872	P2RY11	DOID:8986	Narcolepsy	MedlinePlus	CURATED	5
ENSP00000323880	FOXJ1	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000323880	FOXJ1	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000323901	FZD2	DOID:0060254	Robinow syndrome	MedlinePlus	CURATED	5
ENSP00000323929	A2M	AmyCo:33	Wild type beta-2-microglobulin-related Amyloidosis	AmyCo	CURATED	4
ENSP00000323929	A2M	DOID:10652	Alzheimer's disease	AmyCo	CURATED	4
ENSP00000323967	SMARCE1	DOID:1925	Coffin-Siris syndrome	MedlinePlus	CURATED	5
ENSP00000324101	CD151	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000324105	ENO3	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000324122	PRPF31	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000324122	PRPF31	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000324203	WRAP53	DOID:2729	Dyskeratosis congenita	MedlinePlus	CURATED	5
ENSP00000324203	WRAP53	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000324404	TCHP	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000324532	LAMA3	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000324532	LAMA3	DOID:3209	Junctional epidermolysis bullosa	MedlinePlus	CURATED	5
ENSP00000324573	FLII	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000324648	CYP2B6	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000324701	MAB21L2	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000324701	MAB21L2	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000324701	MAB21L2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000324741	MAP11	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000324806	GSK3B	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000324806	GSK3B	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000324856	STK11	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000324856	STK11	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000324856	STK11	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000324856	STK11	DOID:3852	Peutz-Jeghers syndrome	MedlinePlus	CURATED	5
ENSP00000324920	C14orf39	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000324960	CABP4	DOID:0060681	Autosomal dominant nocturnal frontal lobe epilepsy	MedlinePlus	CURATED	5
ENSP00000324960	CABP4	DOID:0110865	Congenital stationary night blindness 1B	MedlinePlus	CURATED	5
ENSP00000325017	NCAPD2	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000325136	HADHB	DOID:0111277	Mitochondrial trifunctional protein deficiency	MedlinePlus	CURATED	5
ENSP00000325146	COL12A1	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000325146	COL12A1	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000325326	ZNF335	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000325398	TPRKB	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000325448	KARS1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000325448	KARS1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000325448	KARS1	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000325448	KARS1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000325448	KARS1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000325448	KARS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000325448	KARS1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000325527	FBN1	DOID:0050475	Weill-Marchesani syndrome	MedlinePlus	CURATED	5
ENSP00000325527	FBN1	DOID:0111148	Isolated ectopia lentis	MedlinePlus	CURATED	5
ENSP00000325527	FBN1	DOID:0111243	Acromicric dysplasia	MedlinePlus	CURATED	5
ENSP00000325527	FBN1	DOID:0111724	Geleophysic dysplasia	MedlinePlus	CURATED	5
ENSP00000325527	FBN1	DOID:14004	Thoracic aortic aneurysm	MedlinePlus	CURATED	5
ENSP00000325527	FBN1	DOID:14323	Marfan syndrome	MedlinePlus	CURATED	5
ENSP00000325527	FBN1	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000325546	PLAG1	DOID:14681	Silver-Russell syndrome	MedlinePlus	CURATED	5
ENSP00000325546	PLAG1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000325785	SPECC1L	DOID:0080697	Opitz GBBB syndrome	MedlinePlus	CURATED	5
ENSP00000325822	CYP11B2	DOID:0080626	Corticosterone methyloxidase deficiency 1	MedlinePlus	CURATED	5
ENSP00000325863	MRE11	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000325863	MRE11	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000325954	CDHR3	DOID:2841	Asthma	UniProtKB-KW	CURATED	4
ENSP00000326018	PRX	DOID:0050540	Charcot-Marie-Tooth disease type 3	UniProtKB-KW	CURATED	4
ENSP00000326018	PRX	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000326018	PRX	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000326018	PRX	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000326018	PRX	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000326052	COX14	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000326159	KLK4	DOID:2187	Amelogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000326159	KLK4	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000326244	TMEM151A	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000326247	SAMD9L	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000326305	SLC25A20	DOID:0111585	carnitine-acylcarnitine translocase deficiency	MedlinePlus	CURATED	5
ENSP00000326342	ELMOD2	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000326366	PSEN1	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000326366	PSEN1	DOID:10652	Alzheimer's disease	MedlinePlus	CURATED	5
ENSP00000326366	PSEN1	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000326366	PSEN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000326366	PSEN1	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000326366	PSEN1	DOID:2280	Hidradenitis suppurativa	MedlinePlus	CURATED	5
ENSP00000326366	PSEN1	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000326411	CWF19L1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000326570	FKRP	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000326570	FKRP	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000326570	FKRP	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000326570	FKRP	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000326570	FKRP	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000326570	FKRP	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000326581	PEG3	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000326603	SMCHD1	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000326603	SMCHD1	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000326603	SMCHD1	DOID:11727	Facioscapulohumeral muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000326603	SMCHD1	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000326603	SMCHD1	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000326649	HPS1	DOID:3753	Hermansky-Pudlak syndrome	MedlinePlus	CURATED	5
ENSP00000326649	HPS1	DOID:3753	Hermansky-Pudlak syndrome	UniProtKB-KW	CURATED	4
ENSP00000326767	MED25	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000326767	MED25	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000326767	MED25	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000326767	MED25	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000326888	LIMS2	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000327048	MAF	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000327048	MAF	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000327048	MAF	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000327048	MAF	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000327048	MAF	DOID:9538	Multiple myeloma	MedlinePlus	CURATED	5
ENSP00000327054	LMNB2	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000327054	LMNB2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000327054	LMNB2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000327070	MDH2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000327077	PCM1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000327145	FLNC	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000327145	FLNC	DOID:0080307	Myofibrillar myopathy	MedlinePlus	CURATED	5
ENSP00000327145	FLNC	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000327214	ATP13A2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000327214	ATP13A2	DOID:14330	Parkinson's disease	MedlinePlus	CURATED	5
ENSP00000327214	ATP13A2	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000327214	ATP13A2	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000327214	ATP13A2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000327251	NOS2	DOID:10763	Hypertension	MedlinePlus	CURATED	5
ENSP00000327268	NDUFV2	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000327268	NDUFV2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000327336	BGN	DOID:12169	Carpal tunnel syndrome	MedlinePlus	CURATED	5
ENSP00000327336	BGN	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000327368	COL10A1	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000327487	TSEN54	DOID:0060264	Pontocerebellar hypoplasia	MedlinePlus	CURATED	5
ENSP00000327487	TSEN54	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000327650	VPS33B	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000327650	VPS33B	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000327758	NKX2-5	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000327758	NKX2-5	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000327758	NKX2-5	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000327758	NKX2-5	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000327758	NKX2-5	DOID:1882	Atrial heart septal defect	UniProtKB-KW	CURATED	4
ENSP00000327801	P4HB	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000327801	P4HB	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000327959	TGIF1	DOID:4621	Holoprosencephaly	MedlinePlus	CURATED	5
ENSP00000327959	TGIF1	DOID:4621	Holoprosencephaly	UniProtKB-KW	CURATED	4
ENSP00000327959	TGIF1	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000327994	TRIM50	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000328118	MCF2L2	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000328169	JAG2	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000328181	NOG	DOID:0050789	tarsal-carpal coalition syndrome	MedlinePlus	CURATED	5
ENSP00000328182	CLN8	DOID:0110723	Neuronal ceroid lipofuscinosis 8	MedlinePlus	CURATED	5
ENSP00000328182	CLN8	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000328182	CLN8	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000328182	CLN8	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000328364	MAFA	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000328412	PDE6G	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000328412	PDE6G	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000328511	KCNA4	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000328511	KCNA4	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000328524	DENND5A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000328551	RAB28	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000328551	RAB28	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000328596	SIX6	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000328596	SIX6	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000328596	SIX6	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000328596	SIX6	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000328625	NRROS	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000328625	NRROS	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000328968	SCN5A	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000328968	SCN5A	DOID:0050451	Brugada syndrome	UniProtKB-KW	CURATED	4
ENSP00000328968	SCN5A	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000328968	SCN5A	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000328968	SCN5A	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000328968	SCN5A	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000328968	SCN5A	DOID:0111073	Progressive familial heart block	MedlinePlus	CURATED	5
ENSP00000328968	SCN5A	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000328968	SCN5A	DOID:13884	Sick sinus syndrome	MedlinePlus	CURATED	5
ENSP00000328968	SCN5A	DOID:2843	Long QT syndrome	MedlinePlus	CURATED	5
ENSP00000328968	SCN5A	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000328998	TRAK1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000329002	HAX1	DOID:0050590	Severe congenital neutropenia	MedlinePlus	CURATED	5
ENSP00000329097	PHF6	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000329097	PHF6	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000329102	LIN9	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000329140	CREB3L2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000329158	CLRN1	DOID:0050439	Usher syndrome	MedlinePlus	CURATED	5
ENSP00000329158	CLRN1	DOID:0050439	Usher syndrome	UniProtKB-KW	CURATED	4
ENSP00000329158	CLRN1	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000329158	CLRN1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000329200	STAC3	DOID:0060346	Native American myopathy	MedlinePlus	CURATED	5
ENSP00000329380	GP1BA	DOID:2217	Bernard-Soulier syndrome	MedlinePlus	CURATED	5
ENSP00000329380	GP1BA	DOID:2217	Bernard-Soulier syndrome	UniProtKB-KW	CURATED	4
ENSP00000329419	COPB2	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000329757	ATP6V0C	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000329869	TPO	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000329869	TPO	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000329880	PHACTR1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000329880	PHACTR1	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000329967	TBK1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000329967	TBK1	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000329967	TBK1	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000329967	TBK1	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000330289	TRAPPC6B	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000330382	PDGFB	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000330382	PDGFB	DOID:3507	Dermatofibrosarcoma protuberans	MedlinePlus	CURATED	5
ENSP00000330389	PTRHD1	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000330393	LEPR	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000330433	TM2D3	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000330433	TM2D3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000330433	TM2D3	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000330633	CNTN2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000330730	COA5	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000330737	NDUFA12	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000330737	NDUFA12	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000330753	BRWD1	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000330862	OPCML	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000330875	FANCF	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000330875	FANCF	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000330959	IL1R2	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000331040	OLIG2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000331040	OLIG2	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000331106	PEX26	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000331106	PEX26	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000331152	MXI1	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000331152	MXI1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000331258	POMK	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000331258	POMK	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000331258	POMK	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000331258	POMK	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000331369	BOLA3	DOID:0070330	Multiple mitochondrial dysfunctions syndrome	MedlinePlus	CURATED	5
ENSP00000331504	FES	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000331602	PRKCD	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000331602	PRKCD	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000331614	IKZF1	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000331736	SELE	DOID:10763	Hypertension	MedlinePlus	CURATED	5
ENSP00000331745	GDF3	DOID:10426	Klippel-Feil syndrome	MedlinePlus	CURATED	5
ENSP00000331745	GDF3	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000331745	GDF3	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000331745	GDF3	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000331746	CALCA	DOID:3973	Thyroid gland medullary carcinoma	AmyCo	CURATED	4
ENSP00000331791	TBX1	DOID:11198	DiGeorge syndrome	MedlinePlus	CURATED	5
ENSP00000331897	IDH2	DOID:0050573	2-hydroxyglutaric aciduria	MedlinePlus	CURATED	5
ENSP00000331897	IDH2	DOID:0060221	Maffucci syndrome	MedlinePlus	CURATED	5
ENSP00000331897	IDH2	DOID:4624	Ollier disease	MedlinePlus	CURATED	5
ENSP00000331897	IDH2	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000331897	IDH2	DOID:4971	Myelofibrosis	MedlinePlus	CURATED	5
ENSP00000331902	COL4A5	DOID:10983	Alport syndrome	MedlinePlus	CURATED	5
ENSP00000331902	COL4A5	DOID:10983	Alport syndrome	UniProtKB-KW	CURATED	4
ENSP00000332198	NOP10	DOID:2729	Dyskeratosis congenita	MedlinePlus	CURATED	5
ENSP00000332198	NOP10	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000332198	NOP10	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000332208	RFX6	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000332247	ATP6V0A2	DOID:3144	Cutis laxa	MedlinePlus	CURATED	5
ENSP00000332256	ALDH1A3	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000332256	ALDH1A3	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000332256	ALDH1A3	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000332296	RARB	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000332296	RARB	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000332296	RARB	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000332296	RARB	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000332353	PTCH1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000332353	PTCH1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000332353	PTCH1	DOID:2512	Nevoid basal cell carcinoma syndrome	MedlinePlus	CURATED	5
ENSP00000332353	PTCH1	DOID:4621	Holoprosencephaly	MedlinePlus	CURATED	5
ENSP00000332353	PTCH1	DOID:4621	Holoprosencephaly	UniProtKB-KW	CURATED	4
ENSP00000332371	COL7A1	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000332371	COL7A1	DOID:4959	Epidermolysis bullosa dystrophica	MedlinePlus	CURATED	5
ENSP00000332549	GRIN2A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000332549	GRIN2A	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000332723	COLEC10	DOID:0060225	3MC syndrome	MedlinePlus	CURATED	5
ENSP00000332756	ATP11C	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000332771	CLCNKA	DOID:445	Bartter disease	MedlinePlus	CURATED	5
ENSP00000332771	CLCNKA	DOID:445	Bartter disease	UniProtKB-KW	CURATED	4
ENSP00000332809	PCARE	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000332809	PCARE	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000332809	PCARE	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000332973	SMAD3	DOID:0050466	Loeys-Dietz syndrome	MedlinePlus	CURATED	5
ENSP00000332973	SMAD3	DOID:14004	Thoracic aortic aneurysm	MedlinePlus	CURATED	5
ENSP00000332973	SMAD3	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000333097	FIGLA	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000333142	PLA2G6	DOID:0110736	Neurodegeneration with brain iron accumulation 2b	MedlinePlus	CURATED	5
ENSP00000333142	PLA2G6	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000333142	PLA2G6	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000333142	PLA2G6	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000333142	PLA2G6	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000333212	CYP2U1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000333212	CYP2U1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000333283	FAAP100	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000333292	SPNS2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000333376	USP45	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000333376	USP45	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000333496	KCND2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000333519	SLC24A3	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000333551	PLPBP	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000333657	MX2	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000333667	SHMT2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000333779	EVI2B	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000333813	ALG12	DOID:0080559	Congenital disorder of glycosylation Ig	MedlinePlus	CURATED	5
ENSP00000333813	ALG12	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000333821	MC2R	DOID:0080620	Familial glucocorticoid deficiency	MedlinePlus	CURATED	5
ENSP00000333821	MC2R	DOID:0111622	ACTH-independent macronodular adrenal hyperplasia	MedlinePlus	CURATED	5
ENSP00000333938	NEXN	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000333938	NEXN	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000333946	COQ6	DOID:0050730	Coenzyme Q10 deficiency disease	MedlinePlus	CURATED	5
ENSP00000334051	GNAL	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000334100	EXOC7	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000334113	DHRSX	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000334122	FGF3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000334134	RGS9BP	DOID:0050335	Bradyopsia	MedlinePlus	CURATED	5
ENSP00000334198	CACNA1H	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000334198	CACNA1H	DOID:1825	Childhood absence epilepsy	MedlinePlus	CURATED	5
ENSP00000334198	CACNA1H	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000334314	EML1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000334314	EML1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000334319	PCLO	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000334379	C2CD3	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000334472	FOXE3	DOID:10124	Corneal disease	UniProtKB-KW	CURATED	4
ENSP00000334472	FOXE3	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000334472	FOXE3	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000334472	FOXE3	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000334547	TAL2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000334564	POLR3C	DOID:8536	Herpes zoster	MedlinePlus	CURATED	5
ENSP00000334592	CYP2R1	DOID:0080883	Vitamin D-dependent rickets	MedlinePlus	CURATED	5
ENSP00000334665	FSCN2	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000334813	RAX	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000334813	RAX	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000334813	RAX	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000334813	RAX	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000334844	TMEM216	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000334844	TMEM216	DOID:0050778	Meckel syndrome	MedlinePlus	CURATED	5
ENSP00000334844	TMEM216	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000334876	GRK1	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000335044	ARID2	DOID:1925	Coffin-Siris syndrome	MedlinePlus	CURATED	5
ENSP00000335060	HPDL	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000335060	HPDL	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000335062	PDCD1	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000335076	EDARADD	DOID:14793	Hypohidrotic ectodermal dysplasia	MedlinePlus	CURATED	5
ENSP00000335246	ENTPD5	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000335261	TMLHE	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000335371	TRAPPC11	DOID:0050602	triple-A syndrome	MedlinePlus	CURATED	5
ENSP00000335371	TRAPPC11	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000335371	TRAPPC11	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000335463	KNL1	DOID:0070296	Primary autosomal recessive microcephaly	MedlinePlus	CURATED	5
ENSP00000335463	KNL1	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000335632	CHP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000336666	AP1S1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000336701	RAD51C	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000336701	RAD51C	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000336701	RAD51C	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000336701	RAD51C	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000336740	LIMK1	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000336740	LIMK1	DOID:1928	Williams-Beuren syndrome	UniProtKB-KW	CURATED	4
ENSP00000336747	HIP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000336752	FIP1L1	DOID:0080165	Myeloid and lymphoid neoplasms associated with PDGFRA rearrangement	MedlinePlus	CURATED	5
ENSP00000336762	ANG	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000336762	ANG	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000336762	ANG	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000336829	FGG	DOID:2236	Congenital afibrinogenemia	MedlinePlus	CURATED	5
ENSP00000336831	PLS1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000337014	HJV	DOID:2352	Hemochromatosis	MedlinePlus	CURATED	5
ENSP00000337040	UNC119	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000337040	UNC119	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000337088	MEN1	DOID:0111622	ACTH-independent macronodular adrenal hyperplasia	MedlinePlus	CURATED	5
ENSP00000337088	MEN1	DOID:3125	Multiple endocrine neoplasia	MedlinePlus	CURATED	5
ENSP00000337103	CHAT	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000337103	CHAT	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000337128	EDN3	DOID:10487	Hirschsprung's disease	MedlinePlus	CURATED	5
ENSP00000337128	EDN3	DOID:10487	Hirschsprung's disease	UniProtKB-KW	CURATED	4
ENSP00000337128	EDN3	DOID:9258	Waardenburg syndrome	MedlinePlus	CURATED	5
ENSP00000337224	LRAT	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000337224	LRAT	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000337224	LRAT	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000337332	SIRT6	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000337353	TDP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000337354	LIPA	DOID:0080217	Lysosomal acid lipase deficiency	MedlinePlus	CURATED	5
ENSP00000337383	NLRP3	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000337383	NLRP3	DOID:0090029	CINCA Syndrome	MedlinePlus	CURATED	5
ENSP00000337383	NLRP3	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000337386	ZFP36L1	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000337443	NXN	DOID:0060254	Robinow syndrome	MedlinePlus	CURATED	5
ENSP00000337445	ELAC2	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000337445	ELAC2	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000337445	ELAC2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000337452	NIPA1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000337452	NIPA1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000337623	RNASEH2B	DOID:0050629	Aicardi-Goutieres syndrome	MedlinePlus	CURATED	5
ENSP00000337623	RNASEH2B	DOID:0050629	Aicardi-Goutieres syndrome	UniProtKB-KW	CURATED	4
ENSP00000337946	PACRG	DOID:1024	Leprosy	MedlinePlus	CURATED	5
ENSP00000338019	DNAJB2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000338019	DNAJB2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000338019	DNAJB2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000338157	ZBTB16	DOID:0060318	Acute promyelocytic leukemia	MedlinePlus	CURATED	5
ENSP00000338157	ZBTB16	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000338185	PLCB1	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000338185	PLCB1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000338207	LMO1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000338207	LMO1	DOID:769	Neuroblastoma	MedlinePlus	CURATED	5
ENSP00000338283	NPAS2	DOID:0060167	Seasonal affective disorder	MedlinePlus	CURATED	5
ENSP00000338343	SGCD	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000338343	SGCD	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000338343	SGCD	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000338343	SGCD	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000338413	UBA1	DOID:0080828	VEXAS syndrome	MedlinePlus	CURATED	5
ENSP00000338413	UBA1	DOID:0111827	X-linked spinal muscular atrophy 2	MedlinePlus	CURATED	5
ENSP00000338413	UBA1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000338512	AGTPBP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000338562	STX3	DOID:0060775	Microvillus inclusion disease	MedlinePlus	CURATED	5
ENSP00000338629	RERE	DOID:0060410	Chromosome 1p36 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000338629	RERE	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000338673	CDK10	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000338703	UGP2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000338728	CCDC88A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000338728	CCDC88A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000338766	NPHP3	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000338766	NPHP3	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000338796	SSX2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000338814	BAG5	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000338844	SEC23B	DOID:1338	Congenital dyserythropoietic anemia	MedlinePlus	CURATED	5
ENSP00000338844	SEC23B	DOID:1338	Congenital dyserythropoietic anemia	UniProtKB-KW	CURATED	4
ENSP00000338844	SEC23B	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000338844	SEC23B	DOID:6457	Cowden syndrome	MedlinePlus	CURATED	5
ENSP00000339004	FOXG1	DOID:0050561	Lennox-Gastaut syndrome	MedlinePlus	CURATED	5
ENSP00000339063	EEF1A1	AmyCo:17	Apolipoprotein A-I associated Amyloidosis	AmyCo	CURATED	4
ENSP00000339109	ANAPC1	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000339191	CAV1	DOID:0050585	Congenital generalized lipodystrophy	MedlinePlus	CURATED	5
ENSP00000339191	CAV1	DOID:0050585	Congenital generalized lipodystrophy	UniProtKB-KW	CURATED	4
ENSP00000339191	CAV1	DOID:14557	Primary pulmonary hypertension	MedlinePlus	CURATED	5
ENSP00000339191	CAV1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000339340	KCTD21	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000339398	HLA-DQA1	DOID:10608	Celiac disease	MedlinePlus	CURATED	5
ENSP00000339398	HLA-DQA1	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000339398	HLA-DQA1	DOID:8881	Rosacea	MedlinePlus	CURATED	5
ENSP00000339398	HLA-DQA1	DOID:8986	Narcolepsy	MedlinePlus	CURATED	5
ENSP00000339398	HLA-DQA1	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000339398	HLA-DQA1	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000339404	ASCC1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000339449	CFAP52	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000339479	NT5C2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000339479	NT5C2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000339527	FOXO3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000339587	GSDME	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000339587	GSDME	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000339587	GSDME	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000339637	BRAT1	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000339637	BRAT1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000339659	TRIM2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000339659	TRIM2	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000339659	TRIM2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000339659	TRIM2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000339720	NDUFA4	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000339720	NDUFA4	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000339764	PRDM8	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000339764	PRDM8	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000339787	ACSL4	DOID:10983	Alport syndrome	UniProtKB-KW	CURATED	4
ENSP00000339787	ACSL4	DOID:2373	Hereditary elliptocytosis	UniProtKB-KW	CURATED	4
ENSP00000339787	ACSL4	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000339801	IDS	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000339801	IDS	DOID:12799	Mucopolysaccharidosis II	MedlinePlus	CURATED	5
ENSP00000339824	FGFR3	DOID:0050331	Lacrimoauriculodentodigital syndrome 1	UniProtKB-KW	CURATED	4
ENSP00000339824	FGFR3	DOID:0060703	Muenke Syndrome	MedlinePlus	CURATED	5
ENSP00000339824	FGFR3	DOID:0080041	Hypochondroplasia	MedlinePlus	CURATED	5
ENSP00000339824	FGFR3	DOID:0081370	LADD syndrome	MedlinePlus	CURATED	5
ENSP00000339824	FGFR3	DOID:0111158	SADDAN	MedlinePlus	CURATED	5
ENSP00000339824	FGFR3	DOID:0111161	Crouzon syndrome-acanthosis nigricans syndrome	MedlinePlus	CURATED	5
ENSP00000339824	FGFR3	DOID:0111162	Epidermal nevus	MedlinePlus	CURATED	5
ENSP00000339824	FGFR3	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000339824	FGFR3	DOID:13481	Thanatophoric dysplasia	MedlinePlus	CURATED	5
ENSP00000339824	FGFR3	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000339824	FGFR3	DOID:4480	Achondroplasia	MedlinePlus	CURATED	5
ENSP00000339824	FGFR3	DOID:9538	Multiple myeloma	MedlinePlus	CURATED	5
ENSP00000339867	CLCN1	DOID:2106	Myotonia congenita	MedlinePlus	CURATED	5
ENSP00000339883	LBR	DOID:0111588	Greenberg dysplasia	MedlinePlus	CURATED	5
ENSP00000339912	FLRT3	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000339912	FLRT3	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000339912	FLRT3	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000339933	PKLR	DOID:0111077	Pyruvate kinase deficiency of red cells	MedlinePlus	CURATED	5
ENSP00000339933	PKLR	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000339992	MYB	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000340019	HSPD1	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000340019	HSPD1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000340019	HSPD1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000340226	LMX1A	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000340278	PARK7	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000340278	PARK7	DOID:14330	Parkinson's disease	MedlinePlus	CURATED	5
ENSP00000340278	PARK7	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000340278	PARK7	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000340328	NYX	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000340329	CAPRIN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000340361	ACVR2B	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000340361	ACVR2B	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000340373	DYRK1A	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000340409	SMPD1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000340409	SMPD1	DOID:14504	Niemann-Pick disease	MedlinePlus	CURATED	5
ENSP00000340409	SMPD1	DOID:14504	Niemann-Pick disease	UniProtKB-KW	CURATED	4
ENSP00000340507	TRIM24	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000340596	UBE3B	DOID:0111456	Kaufman oculocerebrofacial syndrome	MedlinePlus	CURATED	5
ENSP00000340684	MAOA	DOID:0060693	Brunner Syndrome	MedlinePlus	CURATED	5
ENSP00000340736	GYG1	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000340820	MAPT	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000340820	MAPT	DOID:10652	Alzheimer's disease	AmyCo	CURATED	4
ENSP00000340820	MAPT	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000340820	MAPT	DOID:11870	Pick's disease	AmyCo	CURATED	4
ENSP00000340820	MAPT	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000340820	MAPT	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000340820	MAPT	DOID:678	Progressive supranuclear palsy	MedlinePlus	CURATED	5
ENSP00000340820	MAPT	DOID:9255	Frontotemporal dementia	MedlinePlus	CURATED	5
ENSP00000340874	MEF2C	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000340883	SMARCB1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000340883	SMARCB1	DOID:1925	Coffin-Siris syndrome	MedlinePlus	CURATED	5
ENSP00000340883	SMARCB1	DOID:2129	Atypical teratoid rhabdoid tumor	MedlinePlus	CURATED	5
ENSP00000340883	SMARCB1	DOID:3204	Schwannomatosis	MedlinePlus	CURATED	5
ENSP00000340883	SMARCB1	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000340900	MIA3	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000340935	DMP1	DOID:0050336	Hypophosphatemia	MedlinePlus	CURATED	5
ENSP00000341013	AMTN	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000341159	CERKL	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000341159	CERKL	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000341289	TUBB4B	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000341289	TUBB4B	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000341292	WNK1	DOID:0070161	Hereditary sensory and autonomic neuropathy type 2	MedlinePlus	CURATED	5
ENSP00000341292	WNK1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000341292	WNK1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000341361	RNF13	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000341364	TMEM230	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000341364	TMEM230	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000341422	P4HTM	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000341550	SLC24A5	DOID:0050632	Oculocutaneous albinism	MedlinePlus	CURATED	5
ENSP00000341551	SMAD4	DOID:0050787	Juvenile polyposis syndrome	MedlinePlus	CURATED	5
ENSP00000341551	SMAD4	DOID:1270	Hereditary hemorrhagic telangiectasia	MedlinePlus	CURATED	5
ENSP00000341551	SMAD4	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000341562	B4GALNT1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000341562	B4GALNT1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000341680	DTNBP1	DOID:3753	Hermansky-Pudlak syndrome	MedlinePlus	CURATED	5
ENSP00000341680	DTNBP1	DOID:3753	Hermansky-Pudlak syndrome	UniProtKB-KW	CURATED	4
ENSP00000341815	SOX18	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000341826	HNRNPA1	DOID:0050881	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	MedlinePlus	CURATED	5
ENSP00000341826	HNRNPA1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000341826	HNRNPA1	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000341826	HNRNPA1	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000341838	TNNI3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000341838	TNNI3	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000341838	TNNI3	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000341838	TNNI3	DOID:397	Restrictive cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000341940	CAV3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000341940	CAV3	DOID:0111338	Isolated elevated serum creatine phosphokinase levels	MedlinePlus	CURATED	5
ENSP00000341940	CAV3	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000341940	CAV3	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000341940	CAV3	DOID:2843	Long QT syndrome	MedlinePlus	CURATED	5
ENSP00000341940	CAV3	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000342023	FBXO38	DOID:0111206	Autosomal dominant distal hereditary motor neuronopathy 2	MedlinePlus	CURATED	5
ENSP00000342023	FBXO38	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000342023	FBXO38	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000342144	EVC2	DOID:0111571	Weyers acrofacial dysostosis	MedlinePlus	CURATED	5
ENSP00000342144	EVC2	DOID:12714	Ellis-Van Creveld syndrome	MedlinePlus	CURATED	5
ENSP00000342235	ERBB4	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000342235	ERBB4	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000342235	ERBB4	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000342235	ERBB4	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000342267	SLC25A15	DOID:0050720	Ornithine translocase deficiency	MedlinePlus	CURATED	5
ENSP00000342295	ANKRD55	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000342313	SAMD11	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000342392	MESP2	DOID:0050568	Spondylocostal dysostosis	MedlinePlus	CURATED	5
ENSP00000342392	MESP2	DOID:0050568	Spondylocostal dysostosis	MedlinePlus	CURATED	5
ENSP00000342434	BAZ1B	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000342434	BAZ1B	DOID:1928	Williams-Beuren syndrome	UniProtKB-KW	CURATED	4
ENSP00000342502	PYCR2	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000342850	SERPINA6	DOID:0090030	corticosteroid-binding globulin deficiency	MedlinePlus	CURATED	5
ENSP00000342924	MCPH1	DOID:0070296	Primary autosomal recessive microcephaly	MedlinePlus	CURATED	5
ENSP00000342924	MCPH1	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000342931	POU1F1	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000343002	B3GLCT	DOID:0080201	Peters plus syndrome	MedlinePlus	CURATED	5
ENSP00000343002	B3GLCT	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000343200	SKOR1	DOID:0050425	Restless legs syndrome	MedlinePlus	CURATED	5
ENSP00000343223	TCL1B	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000343273	KLHL7	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000343273	KLHL7	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000343339	P2RX2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000343339	P2RX2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000343535	USP7	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000343619	HOXA9	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000343657	MCCC2	DOID:0050710	3-methylcrotonyl-CoA carboxylase deficiency	MedlinePlus	CURATED	5
ENSP00000343782	ADRB3	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000343782	ADRB3	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000343818	CDK5RAP2	DOID:0070296	Primary autosomal recessive microcephaly	MedlinePlus	CURATED	5
ENSP00000343818	CDK5RAP2	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000343847	NEK10	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000343847	NEK10	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000343871	TMTC4	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000343885	PPA2	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000343896	SMARCA4	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000343896	SMARCA4	DOID:1925	Coffin-Siris syndrome	MedlinePlus	CURATED	5
ENSP00000343896	SMARCA4	DOID:2129	Atypical teratoid rhabdoid tumor	MedlinePlus	CURATED	5
ENSP00000344125	POMGNT2	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000344125	POMGNT2	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000344125	POMGNT2	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000344125	POMGNT2	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000344125	POMGNT2	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000344155	ABCA2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000344155	ABCA2	DOID:9245	Alagille syndrome	MedlinePlus	CURATED	5
ENSP00000344285	BSX	DOID:0111723	Jacobsen Syndrome	MedlinePlus	CURATED	5
ENSP00000344314	OFD1	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000344314	OFD1	DOID:0060248	Simpson-Golabi-Behmel syndrome type 1	MedlinePlus	CURATED	5
ENSP00000344314	OFD1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000344314	OFD1	DOID:4501	Orofaciodigital syndrome	MedlinePlus	CURATED	5
ENSP00000344314	OFD1	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000344431	DNAJB13	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000344431	DNAJB13	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000344432	DOK7	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000344432	DOK7	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000344468	SDC3	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	AmyCo	CURATED	4
ENSP00000344468	SDC3	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000344479	NR4A2	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000344479	NR4A2	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000344488	JPH1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000344666	NF2	DOID:0111252	Vestibular schwannomatosis	MedlinePlus	CURATED	5
ENSP00000344666	NF2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000344666	NF2	DOID:3204	Schwannomatosis	MedlinePlus	CURATED	5
ENSP00000344782	GFI1B	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000344794	MOCS1	DOID:0111165	Molybdenum cofactor deficiency	MedlinePlus	CURATED	5
ENSP00000344967	SPRY4	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000344967	SPRY4	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000344967	SPRY4	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000344989	DALRD3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000345008	FBLN5	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000345008	FBLN5	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000345008	FBLN5	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000345008	FBLN5	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000345008	FBLN5	DOID:3144	Cutis laxa	MedlinePlus	CURATED	5
ENSP00000345008	FBLN5	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000345055	KCNQ5	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000345064	PRICKLE1	DOID:0111448	Progressive myoclonus epilepsy 1B	MedlinePlus	CURATED	5
ENSP00000345064	PRICKLE1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000345064	PRICKLE1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000345096	IMPDH1	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000345096	IMPDH1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000345096	IMPDH1	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000345096	IMPDH1	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000345193	SHANK2	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000345195	UBQLN2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000345195	UBQLN2	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000345195	UBQLN2	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000345206	RBPJ	DOID:0060227	Adams-Oliver syndrome	MedlinePlus	CURATED	5
ENSP00000345259	EPB41	DOID:2373	Hereditary elliptocytosis	UniProtKB-KW	CURATED	4
ENSP00000345259	EPB41	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000345464	NHLRC1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000345464	NHLRC1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000345464	NHLRC1	DOID:3534	Lafora disease	MedlinePlus	CURATED	5
ENSP00000345492	SH2B3	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000345667	ILDR1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000345667	ILDR1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000345672	CTSB	DOID:10652	Alzheimer's disease	AmyCo	CURATED	4
ENSP00000345708	KCNJ11	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000345708	KCNJ11	DOID:0060639	Permanent neonatal diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000345708	KCNJ11	DOID:11714	Gestational diabetes	MedlinePlus	CURATED	5
ENSP00000345708	KCNJ11	DOID:13317	Hyperinsulinemic hypoglycemia	MedlinePlus	CURATED	5
ENSP00000345708	KCNJ11	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000345719	TOR1A	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000345728	ATP7A	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000345728	ATP7A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000345728	ATP7A	DOID:1838	Menkes disease	MedlinePlus	CURATED	5
ENSP00000345728	ATP7A	DOID:3144	Cutis laxa	MedlinePlus	CURATED	5
ENSP00000345728	ATP7A	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000345751	SCNN1B	DOID:0050477	Liddle syndrome	MedlinePlus	CURATED	5
ENSP00000345752	MTMR2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000345752	MTMR2	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000345752	MTMR2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000345752	MTMR2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000345774	ALDH3A2	DOID:14501	Sjogren-Larsson syndrome	MedlinePlus	CURATED	5
ENSP00000345785	FZD9	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000345824	TSPOAP1	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000345868	GJB4	DOID:0050467	Erythrokeratodermia variabilis	MedlinePlus	CURATED	5
ENSP00000345868	GJB4	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000345984	TRAF3IP2	DOID:9008	Psoriatic arthritis	MedlinePlus	CURATED	5
ENSP00000345988	PLCH1	DOID:4621	Holoprosencephaly	UniProtKB-KW	CURATED	4
ENSP00000345997	DMPK	DOID:11722	Myotonic dystrophy type 1	MedlinePlus	CURATED	5
ENSP00000345997	DMPK	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000346027	RPL21	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000346112	SLC12A6	DOID:0090003	Agenesis of the corpus callosum with peripheral neuropathy	MedlinePlus	CURATED	5
ENSP00000346112	SLC12A6	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000346112	SLC12A6	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000346112	SLC12A6	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000346112	SLC12A6	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000346139	TBC1D20	DOID:0111586	Martsolf syndrome	MedlinePlus	CURATED	5
ENSP00000346139	TBC1D20	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000346173	ETFB	DOID:0060358	Multiple acyl-CoA dehydrogenase deficiency	MedlinePlus	CURATED	5
ENSP00000346173	ETFB	DOID:9252	Amino acid metabolic disorder	UniProtKB-KW	CURATED	4
ENSP00000346206	TAP1	DOID:0060009	MHC class I deficiency	MedlinePlus	CURATED	5
ENSP00000346359	KIAA0586	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000346359	KIAA0586	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000346437	ATG7	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000346478	ADAMTSL2	DOID:0111724	Geleophysic dysplasia	MedlinePlus	CURATED	5
ENSP00000346484	MAK	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000346534	SCN8A	DOID:0050561	Lennox-Gastaut syndrome	MedlinePlus	CURATED	5
ENSP00000346534	SCN8A	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000346534	SCN8A	DOID:0080445	Developmental and epileptic encephalopathy 13	MedlinePlus	CURATED	5
ENSP00000346534	SCN8A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000346560	FILIP1L	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000346643	HKDC1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000346659	OCA2	DOID:0050632	Oculocutaneous albinism	MedlinePlus	CURATED	5
ENSP00000346659	OCA2	DOID:11983	Prader-Willi syndrome	MedlinePlus	CURATED	5
ENSP00000346659	OCA2	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000346659	OCA2	DOID:1932	Angelman syndrome	MedlinePlus	CURATED	5
ENSP00000346671	FYN	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000346694	HNRNPA2B1	DOID:0050881	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	MedlinePlus	CURATED	5
ENSP00000346805	CRYBA4	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000346805	CRYBA4	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000346805	CRYBA4	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000346839	FN1	AmyCo:8	Immunoglobulin Light-chain Amyloidosis	AmyCo	CURATED	4
ENSP00000346874	FAR1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000346874	FAR1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000346879	NKX2-1	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000347055	MYL4	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000347055	MYL4	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000347088	LARGE1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000347088	LARGE1	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000347088	LARGE1	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000347134	NET1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000347184	HTT	DOID:12858	Huntington's disease	AmyCo	CURATED	4
ENSP00000347184	HTT	DOID:12858	Huntington's disease	MedlinePlus	CURATED	5
ENSP00000347184	HTT	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000347188	KCTD6	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000347232	BLM	DOID:2717	Bloom syndrome	MedlinePlus	CURATED	5
ENSP00000347324	MSRB3	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000347324	MSRB3	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000347433	APCDD1	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000347444	TDRD7	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000347484	THSD4	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000347495	WARS1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000347495	WARS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000347495	WARS1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000347498	ZFYVE19	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000347498	ZFYVE19	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000347507	MYH7	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000347507	MYH7	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000347507	MYH7	DOID:0070197	Distal myopathy 1	MedlinePlus	CURATED	5
ENSP00000347507	MYH7	DOID:0080102	Congenital myopathy 4A	MedlinePlus	CURATED	5
ENSP00000347507	MYH7	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000347507	MYH7	DOID:0111267	Hyaline body myopathy	MedlinePlus	CURATED	5
ENSP00000347507	MYH7	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000347507	MYH7	DOID:397	Restrictive cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000347548	RNF220	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000347548	RNF220	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000347684	LMX1B	DOID:9467	nail-patella syndrome	MedlinePlus	CURATED	5
ENSP00000347717	DHCR7	DOID:14692	Smith-Lemli-Opitz syndrome	MedlinePlus	CURATED	5
ENSP00000347719	TBCD	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000347942	RET	DOID:0050773	Paraganglioma	MedlinePlus	CURATED	5
ENSP00000347942	RET	DOID:10487	Hirschsprung's disease	MedlinePlus	CURATED	5
ENSP00000347942	RET	DOID:10487	Hirschsprung's disease	UniProtKB-KW	CURATED	4
ENSP00000347942	RET	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000347942	RET	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000347942	RET	DOID:3125	Multiple endocrine neoplasia	MedlinePlus	CURATED	5
ENSP00000348020	MLH3	DOID:3883	Lynch syndrome	UniProtKB-KW	CURATED	4
ENSP00000348089	ERCC6	DOID:0060240	UV-sensitive syndrome	MedlinePlus	CURATED	5
ENSP00000348089	ERCC6	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000348089	ERCC6	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000348089	ERCC6	DOID:2962	Cockayne syndrome	MedlinePlus	CURATED	5
ENSP00000348089	ERCC6	DOID:2962	Cockayne syndrome	UniProtKB-KW	CURATED	4
ENSP00000348089	ERCC6	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000348089	ERCC6	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000348128	SVIL	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000348168	GTF2E2	DOID:0111866	Trichothiodystrophy	MedlinePlus	CURATED	5
ENSP00000348211	SLC25A46	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000348211	SLC25A46	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000348211	SLC25A46	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000348211	SLC25A46	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000348234	TAT	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000348234	TAT	DOID:9275	Tyrosinemia	MedlinePlus	CURATED	5
ENSP00000348314	SPEF2	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000348349	MYO9A	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000348461	RAC1	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000348564	CDAN1	DOID:1338	Congenital dyserythropoietic anemia	MedlinePlus	CURATED	5
ENSP00000348564	CDAN1	DOID:1338	Congenital dyserythropoietic anemia	UniProtKB-KW	CURATED	4
ENSP00000348564	CDAN1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000348565	UBA5	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000348565	UBA5	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000348573	AKAP9	DOID:2843	Long QT syndrome	MedlinePlus	CURATED	5
ENSP00000348573	AKAP9	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000348757	CCDC151	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000348848	WDR45	DOID:0110739	Neurodegeneration with brain iron accumulation 5	MedlinePlus	CURATED	5
ENSP00000348848	WDR45	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000348849	RPS26	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000348849	RPS26	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000348912	ADAM33	DOID:2841	Asthma	UniProtKB-KW	CURATED	4
ENSP00000348944	RSPO1	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000348965	DYNC1H1	DOID:0070348	Spinal muscular atrophy with lower extremity predominant	MedlinePlus	CURATED	5
ENSP00000348965	DYNC1H1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000348965	DYNC1H1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000348965	DYNC1H1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000348965	DYNC1H1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000349016	PEX14	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000349016	PEX14	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000349320	CACNA2D1	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000349320	CACNA2D1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000349351	BICD2	DOID:0070348	Spinal muscular atrophy with lower extremity predominant	MedlinePlus	CURATED	5
ENSP00000349351	BICD2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000349365	IL27	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000349446	ARG1	DOID:9278	Hyperargininemia	MedlinePlus	CURATED	5
ENSP00000349456	CLCC1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000349458	ICK	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000349541	CAVIN1	DOID:0050585	Congenital generalized lipodystrophy	MedlinePlus	CURATED	5
ENSP00000349541	CAVIN1	DOID:0050585	Congenital generalized lipodystrophy	UniProtKB-KW	CURATED	4
ENSP00000349541	CAVIN1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000349543	PEX2	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000349543	PEX2	DOID:905	Zellweger syndrome	UniProtKB-KW	CURATED	4
ENSP00000349543	PEX2	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000349547	RASSF1	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000349547	RASSF1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000349577	PRODH	DOID:0080541	Hyperprolinemia	MedlinePlus	CURATED	5
ENSP00000349588	ANK2	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000349588	ANK2	DOID:0111700	ankyrin-B-related cardiac arrhythmia	MedlinePlus	CURATED	5
ENSP00000349588	ANK2	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000349595	ATP2A1	DOID:0050692	Brody myopathy	MedlinePlus	CURATED	5
ENSP00000349629	LRBA	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000349658	XPNPEP3	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000349687	GM2A	DOID:2368	Gangliosidosis	UniProtKB-KW	CURATED	4
ENSP00000349687	GM2A	DOID:4795	GM2 gangliosidosis, AB variant	MedlinePlus	CURATED	5
ENSP00000349723	BCL11B	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000349790	COL9A1	DOID:0080046	Stickler syndrome	MedlinePlus	CURATED	5
ENSP00000349790	COL9A1	DOID:0080046	Stickler syndrome	UniProtKB-KW	CURATED	4
ENSP00000349790	COL9A1	DOID:12721	Multiple epiphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000349823	SMARCAL1	DOID:0060490	Schimke immuno-osseous dysplasia	MedlinePlus	CURATED	5
ENSP00000349860	GFPT1	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000349860	GFPT1	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000349923	LAGE3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000350132	PLN	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000350132	PLN	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000350132	PLN	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000350132	PLN	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000350249	POT1	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000350348	GRM7	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000350348	GRM7	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000350386	CHM	DOID:9821	Choroideremia	MedlinePlus	CURATED	5
ENSP00000350425	APOA4	AmyCo:16	Localized insulin-derived Amyloidosis	AmyCo	CURATED	4
ENSP00000350425	APOA4	AmyCo:22	Apolipoprotein A-II associated Amyloidosis	AmyCo	CURATED	4
ENSP00000350425	APOA4	AmyCo:25	Apolipoprotein C-II associated Amyloidosis	AmyCo	CURATED	4
ENSP00000350425	APOA4	AmyCo:26	Apolipoprotein C-III associated Amyloidosis	AmyCo	CURATED	4
ENSP00000350425	APOA4	AmyCo:28	Apolipoprotein A-IV associated Amyloidosis	AmyCo	CURATED	4
ENSP00000350425	APOA4	AmyCo:63	Enfuvirtide-induced Amyloidosis	AmyCo	CURATED	4
ENSP00000350425	APOA4	DOID:3973	Thyroid gland medullary carcinoma	AmyCo	CURATED	4
ENSP00000350425	APOA4	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000350676	PHF8	DOID:0060812	Syndromic X-linked intellectual disability Siderius type	MedlinePlus	CURATED	5
ENSP00000350686	ANKLE2	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000350719	SYNE2	DOID:11726	Emery-Dreifuss muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000350719	SYNE2	DOID:11726	Emery-Dreifuss muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000350833	MPPED2	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000350844	PAX5	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000350928	GAD1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000350928	GAD1	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000350949	GMPPA	DOID:0050602	triple-A syndrome	MedlinePlus	CURATED	5
ENSP00000351015	NF1	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000351015	NF1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000351015	NF1	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000351015	NF1	DOID:8712	Neurofibromatosis	MedlinePlus	CURATED	5
ENSP00000351022	TPM1	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000351022	TPM1	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000351022	TPM1	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000351022	TPM1	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000351059	CX3CR1	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000351059	CX3CR1	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000351155	ATL1	DOID:0110791	Hereditary spastic paraplegia 3A	MedlinePlus	CURATED	5
ENSP00000351155	ATL1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000351155	ATL1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000351155	ATL1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000351185	DNA2	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
ENSP00000351185	DNA2	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000351185	DNA2	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000351209	EPHA2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000351255	STAT4	DOID:418	Systemic scleroderma	MedlinePlus	CURATED	5
ENSP00000351255	STAT4	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000351255	STAT4	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000351255	STAT4	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000351273	CASP8	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000351273	CASP8	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000351338	PLXNB1	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000351346	VPS13B	DOID:0111590	Cohen syndrome	MedlinePlus	CURATED	5
ENSP00000351346	VPS13B	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000351497	FCGR2B	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000351497	FCGR2B	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000351497	FCGR2B	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000351575	BDP1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000351575	BDP1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000351591	NLGN3	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000351605	FZD6	DOID:0080079	Nonsyndromic congenital nail disorder 1	MedlinePlus	CURATED	5
ENSP00000351642	BCAS4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000351644	GTPBP3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000351644	GTPBP3	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000351737	TMEM126B	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000351777	VCP	DOID:0050881	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	MedlinePlus	CURATED	5
ENSP00000351777	VCP	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000351777	VCP	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000351777	VCP	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000351777	VCP	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000351777	VCP	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000351777	VCP	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000351790	MYPN	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000351790	MYPN	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000351790	MYPN	DOID:3191	Nemaline myopathy	UniProtKB-KW	CURATED	4
ENSP00000351807	ELN	DOID:0080926	7q11.23 duplication syndrome	MedlinePlus	CURATED	5
ENSP00000351807	ELN	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000351807	ELN	DOID:1929	Supravalvular aortic stenosis	MedlinePlus	CURATED	5
ENSP00000351807	ELN	DOID:3144	Cutis laxa	MedlinePlus	CURATED	5
ENSP00000351832	RAB3GAP2	DOID:0111586	Martsolf syndrome	MedlinePlus	CURATED	5
ENSP00000351832	RAB3GAP2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000351832	RAB3GAP2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000351905	TGFBR2	DOID:0050466	Loeys-Dietz syndrome	MedlinePlus	CURATED	5
ENSP00000351905	TGFBR2	DOID:14004	Thoracic aortic aneurysm	MedlinePlus	CURATED	5
ENSP00000351905	TGFBR2	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000351905	TGFBR2	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000351905	TGFBR2	DOID:3883	Lynch syndrome	UniProtKB-KW	CURATED	4
ENSP00000351947	SMARCAD1	DOID:0111357	Adermatoglyphia	MedlinePlus	CURATED	5
ENSP00000351947	SMARCAD1	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000352011	CACNA1G	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000352011	CACNA1G	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000352035	KCNQ2	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000352035	KCNQ2	DOID:14264	Benign neonatal seizures	MedlinePlus	CURATED	5
ENSP00000352035	KCNQ2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000352208	MYOF	DOID:14735	Hereditary angioedema	MedlinePlus	CURATED	5
ENSP00000352216	SLC2A10	DOID:0050645	Arterial tortuosity syndrome	MedlinePlus	CURATED	5
ENSP00000352257	XRCC6	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000352271	XRCC2	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000352271	XRCC2	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000352271	XRCC2	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000352271	XRCC2	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000352400	NUP214	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000352414	FGF17	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000352414	FGF17	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000352414	FGF17	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000352427	RGR	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000352427	RGR	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000352455	MFAP5	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000352510	TECPR2	DOID:0110801	Hereditary spastic paraplegia 49	MedlinePlus	CURATED	5
ENSP00000352510	TECPR2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000352510	TECPR2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000352510	TECPR2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000352516	DNMT1	DOID:0070158	Hereditary sensory neuropathy type 1E	MedlinePlus	CURATED	5
ENSP00000352516	DNMT1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000352516	DNMT1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000352527	KCNK5	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000352572	PCNT	DOID:0060609	Microcephalic osteodysplastic primordial dwarfism type II	MedlinePlus	CURATED	5
ENSP00000352572	PCNT	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000352608	RYR1	DOID:0080102	Congenital myopathy 4A	MedlinePlus	CURATED	5
ENSP00000352608	RYR1	DOID:0080991	Congenital myopathy 1B	MedlinePlus	CURATED	5
ENSP00000352608	RYR1	DOID:14717	Centronuclear myopathy	MedlinePlus	CURATED	5
ENSP00000352608	RYR1	DOID:3529	Congenital myopathy 1A	MedlinePlus	CURATED	5
ENSP00000352608	RYR1	DOID:8545	Malignant hyperthermia	MedlinePlus	CURATED	5
ENSP00000352639	CELA2A	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000352639	CELA2A	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000352673	ELF3	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000352706	HIBCH	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000352785	DSG4	DOID:0050472	Monilethrix	MedlinePlus	CURATED	5
ENSP00000352785	DSG4	DOID:0110703	Hypotrichosis 6	MedlinePlus	CURATED	5
ENSP00000352785	DSG4	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000352798	COL18A1	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000352833	PTPN22	DOID:12306	Vitiligo	MedlinePlus	CURATED	5
ENSP00000352833	PTPN22	DOID:12361	Graves' disease	MedlinePlus	CURATED	5
ENSP00000352833	PTPN22	DOID:418	Systemic scleroderma	MedlinePlus	CURATED	5
ENSP00000352833	PTPN22	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000352833	PTPN22	DOID:7188	Autoimmune thyroiditis	MedlinePlus	CURATED	5
ENSP00000352833	PTPN22	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000352833	PTPN22	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000352833	PTPN22	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000352833	PTPN22	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000352925	TRRAP	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000352936	SPINK5	DOID:0050474	Netherton syndrome	MedlinePlus	CURATED	5
ENSP00000352936	SPINK5	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000353025	FAM3C	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000353099	HLA-DRB1	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000353099	HLA-DRB1	DOID:11729	Lyme disease	MedlinePlus	CURATED	5
ENSP00000353099	HLA-DRB1	DOID:12361	Graves' disease	MedlinePlus	CURATED	5
ENSP00000353099	HLA-DRB1	DOID:2377	Multiple sclerosis	MedlinePlus	CURATED	5
ENSP00000353099	HLA-DRB1	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000353099	HLA-DRB1	DOID:7148	Rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000353099	HLA-DRB1	DOID:7188	Autoimmune thyroiditis	MedlinePlus	CURATED	5
ENSP00000353099	HLA-DRB1	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000353099	HLA-DRB1	DOID:8881	Rosacea	MedlinePlus	CURATED	5
ENSP00000353099	HLA-DRB1	DOID:8986	Narcolepsy	MedlinePlus	CURATED	5
ENSP00000353099	HLA-DRB1	DOID:9008	Psoriatic arthritis	MedlinePlus	CURATED	5
ENSP00000353099	HLA-DRB1	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000353099	HLA-DRB1	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000353104	DHDDS	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000353104	DHDDS	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000353165	TPK1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000353249	AGBL5	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000353332	RTEL1	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000353332	RTEL1	DOID:2729	Dyskeratosis congenita	MedlinePlus	CURATED	5
ENSP00000353332	RTEL1	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000353344	ETS2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000353414	ATP2B2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000353422	VPS13A	DOID:0050766	Choreaacanthocytosis	MedlinePlus	CURATED	5
ENSP00000353422	VPS13A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000353422	VPS13A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000353444	RAB5B	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000353452	MYLK	DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome	MedlinePlus	CURATED	5
ENSP00000353452	MYLK	DOID:0080072	Intestinal pseudo-obstruction	MedlinePlus	CURATED	5
ENSP00000353452	MYLK	DOID:14004	Thoracic aortic aneurysm	MedlinePlus	CURATED	5
ENSP00000353452	MYLK	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000353508	MAP2	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000353575	EIF2B3	DOID:0060868	Leukoencephalopathy with vanishing white matter	MedlinePlus	CURATED	5
ENSP00000353575	EIF2B3	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000353608	DSC3	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000353734	PLAGL1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000353735	TOPORS	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000353735	TOPORS	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000353824	PIM3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000353826	LONP1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000353910	FUT8	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000354006	TRPM6	DOID:0060879	Primary hypomagnesemia	MedlinePlus	CURATED	5
ENSP00000354032	BSCL2	DOID:0050585	Congenital generalized lipodystrophy	MedlinePlus	CURATED	5
ENSP00000354032	BSCL2	DOID:0050585	Congenital generalized lipodystrophy	UniProtKB-KW	CURATED	4
ENSP00000354032	BSCL2	DOID:0110770	Hereditary spastic paraplegia 17	MedlinePlus	CURATED	5
ENSP00000354032	BSCL2	DOID:0111203	Autosomal dominant distal hereditary motor neuronopathy 5	MedlinePlus	CURATED	5
ENSP00000354032	BSCL2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000354032	BSCL2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000354032	BSCL2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000354032	BSCL2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000354032	BSCL2	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000354111	DNAJC5	DOID:0110720	Neuronal ceroid lipofuscinosis 4	MedlinePlus	CURATED	5
ENSP00000354111	DNAJC5	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000354111	DNAJC5	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000354218	PPP1R13L	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000354346	MATR3-2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000354346	MATR3-2	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000354361	RFWD3	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000354361	RFWD3	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000354394	STAT1	DOID:8536	Herpes zoster	MedlinePlus	CURATED	5
ENSP00000354487	ZEB1	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000354487	ZEB1	DOID:11555	Fuchs' endothelial dystrophy	MedlinePlus	CURATED	5
ENSP00000354490	ATP1A2	DOID:0050635	Alternating hemiplegia of childhood	MedlinePlus	CURATED	5
ENSP00000354490	ATP1A2	DOID:0060178	Familial hemiplegic migraine	MedlinePlus	CURATED	5
ENSP00000354490	ATP1A2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000354498	PHLDB1	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000354499	MT-CO1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000354499	MT-CO1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000354499	MT-CO1	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000354499	MT-CO1	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000354504	ASTN2	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000354504	ASTN2	DOID:8398	Osteoarthritis	MedlinePlus	CURATED	5
ENSP00000354511	COMT	DOID:11198	DiGeorge syndrome	MedlinePlus	CURATED	5
ENSP00000354511	COMT	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000354511	COMT	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000354511	COMT	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000354511	COMT	DOID:631	Fibromyalgia	MedlinePlus	CURATED	5
ENSP00000354522	TOP1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000354532	PNP	DOID:5813	Purine nucleoside phosphorylase deficiency	MedlinePlus	CURATED	5
ENSP00000354554	MT-CYB	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000354554	MT-CYB	DOID:0111139	Mitochondrial complex III deficiency	MedlinePlus	CURATED	5
ENSP00000354554	MT-CYB	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000354554	MT-CYB	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000354558	MTOR	DOID:0060410	Chromosome 1p36 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000354558	MTOR	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000354573	MACF1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000354607	FZD5	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000354607	FZD5	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000354623	WHRN	DOID:0050439	Usher syndrome	MedlinePlus	CURATED	5
ENSP00000354623	WHRN	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000354623	WHRN	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000354623	WHRN	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000354632	MT-ATP6	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000354632	MT-ATP6	DOID:0111273	NARP syndrome	MedlinePlus	CURATED	5
ENSP00000354632	MT-ATP6	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000354632	MT-ATP6	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000354632	MT-ATP6	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000354632	MT-ATP6	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000354632	MT-ATP6	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000354632	MT-ATP6	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000354645	GPATCH3	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000354649	MAGT1	DOID:0080319	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia	MedlinePlus	CURATED	5
ENSP00000354649	MAGT1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000354649	MAGT1	DOID:6688	Autoimmune lymphoproliferative syndrome	MedlinePlus	CURATED	5
ENSP00000354665	MT-ND6	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000354665	MT-ND6	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000354665	MT-ND6	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000354665	MT-ND6	DOID:3687	MELAS syndrome	UniProtKB-KW	CURATED	4
ENSP00000354665	MT-ND6	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000354665	MT-ND6	DOID:705	Leber hereditary optic neuropathy	MedlinePlus	CURATED	5
ENSP00000354665	MT-ND6	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000354681	OPA1	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000354681	OPA1	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
ENSP00000354681	OPA1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000354687	MT-ND1	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000354687	MT-ND1	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000354687	MT-ND1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000354687	MT-ND1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000354687	MT-ND1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000354687	MT-ND1	DOID:3687	MELAS syndrome	MedlinePlus	CURATED	5
ENSP00000354687	MT-ND1	DOID:3687	MELAS syndrome	UniProtKB-KW	CURATED	4
ENSP00000354687	MT-ND1	DOID:705	Leber hereditary optic neuropathy	MedlinePlus	CURATED	5
ENSP00000354687	MT-ND1	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000354687	MT-ND1	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000354687	MT-ND1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000354689	SLC39A13	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000354689	SLC39A13	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000354718	AKAP13	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000354718	AKAP13	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000354720	SMC3	DOID:11725	Cornelia de Lange syndrome	MedlinePlus	CURATED	5
ENSP00000354721	SLC26A1	DOID:585	Nephrolithiasis	MedlinePlus	CURATED	5
ENSP00000354728	MT-ND4L	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000354728	MT-ND4L	DOID:705	Leber hereditary optic neuropathy	MedlinePlus	CURATED	5
ENSP00000354728	MT-ND4L	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000354762	COA3	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000354778	CNTNAP2	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000354778	CNTNAP2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000354782	CD247	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000354791	DCTN1	DOID:0060486	Perry syndrome	MedlinePlus	CURATED	5
ENSP00000354791	DCTN1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000354791	DCTN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000354791	DCTN1	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000354791	DCTN1	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000354791	DCTN1	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000354791	DCTN1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000354794	ZNF521	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000354813	MT-ND5	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000354813	MT-ND5	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000354813	MT-ND5	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000354813	MT-ND5	DOID:3687	MELAS syndrome	MedlinePlus	CURATED	5
ENSP00000354813	MT-ND5	DOID:3687	MELAS syndrome	UniProtKB-KW	CURATED	4
ENSP00000354813	MT-ND5	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000354822	XAF1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000354848	KIFBP	DOID:10487	Hirschsprung's disease	UniProtKB-KW	CURATED	4
ENSP00000354859	DRD2	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000354859	DRD2	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000354859	DRD2	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000354876	MT-CO2	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000354878	KIF21A	DOID:0080143	Congenital fibrosis of the extraocular muscles	MedlinePlus	CURATED	5
ENSP00000354900	GJB1	DOID:0050540	Charcot-Marie-Tooth disease type 3	UniProtKB-KW	CURATED	4
ENSP00000354900	GJB1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000354900	GJB1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000354900	GJB1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000354900	GJB1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000354916	CDC14A	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000354923	DMD	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000354923	DMD	DOID:0110461	X-linked dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000354923	DMD	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000354929	NOTCH2NLA	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000354932	TLR1	DOID:1024	Leprosy	MedlinePlus	CURATED	5
ENSP00000354932	TLR1	DOID:11729	Lyme disease	MedlinePlus	CURATED	5
ENSP00000354932	TLR1	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000354961	MT-ND4	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000354961	MT-ND4	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000354961	MT-ND4	DOID:3687	MELAS syndrome	UniProtKB-KW	CURATED	4
ENSP00000354961	MT-ND4	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000354961	MT-ND4	DOID:705	Leber hereditary optic neuropathy	MedlinePlus	CURATED	5
ENSP00000354961	MT-ND4	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000354982	MT-CO3	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000354982	MT-CO3	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000354982	MT-CO3	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000355046	MT-ND2	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000355046	MT-ND2	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000355046	MT-ND2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000355046	MT-ND2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000355046	MT-ND2	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000355046	MT-ND2	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000355046	MT-ND2	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000355110	SMOC1	DOID:0060861	Microphthalmia with limb anomalies	MedlinePlus	CURATED	5
ENSP00000355110	SMOC1	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000355110	SMOC1	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000355110	SMOC1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000355133	NOS1AP	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000355141	SELENON	DOID:0080102	Congenital myopathy 4A	MedlinePlus	CURATED	5
ENSP00000355141	SELENON	DOID:0080991	Congenital myopathy 1B	MedlinePlus	CURATED	5
ENSP00000355141	SELENON	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000355180	COL6A1	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000355180	COL6A1	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000355192	CACNA1S	DOID:14452	Hypokalemic periodic paralysis	MedlinePlus	CURATED	5
ENSP00000355192	CACNA1S	DOID:8545	Malignant hyperthermia	MedlinePlus	CURATED	5
ENSP00000355206	MT-ND3	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000355206	MT-ND3	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000355206	MT-ND3	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000355265	MT-ATP8	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000355486	COX20	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000355499	SDCCAG8	DOID:0050576	Senior-Loken syndrome	MedlinePlus	CURATED	5
ENSP00000355499	SDCCAG8	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000355499	SDCCAG8	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000355499	SDCCAG8	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000355499	SDCCAG8	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000355518	FH	DOID:0111261	Fumarase deficiency	MedlinePlus	CURATED	5
ENSP00000355518	FH	DOID:0111622	ACTH-independent macronodular adrenal hyperplasia	MedlinePlus	CURATED	5
ENSP00000355533	RYR2	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000355533	RYR2	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000355533	RYR2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000355533	RYR2	DOID:0060674	Catecholaminergic polymorphic ventricular tachycardia	MedlinePlus	CURATED	5
ENSP00000355536	MTR	DOID:9263	Homocystinuria	MedlinePlus	CURATED	5
ENSP00000355537	ACTN2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000355537	ACTN2	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000355537	ACTN2	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000355559	B3GALNT2	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000355559	B3GALNT2	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000355559	B3GALNT2	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000355574	COA6	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000355601	EGLN1	DOID:10780	Primary polycythemia	MedlinePlus	CURATED	5
ENSP00000355601	EGLN1	DOID:10780	Primary polycythemia	UniProtKB-KW	CURATED	4
ENSP00000355605	EXOC8	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000355607	GNPAT	DOID:2580	Rhizomelic chondrodysplasia punctata	MedlinePlus	CURATED	5
ENSP00000355607	GNPAT	DOID:2580	Rhizomelic chondrodysplasia punctata	UniProtKB-KW	CURATED	4
ENSP00000355607	GNPAT	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000355627	AGT	DOID:10763	Hypertension	MedlinePlus	CURATED	5
ENSP00000355629	COG2	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000355632	GALNT2	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000355645	ACTA1	DOID:0080102	Congenital myopathy 4A	MedlinePlus	CURATED	5
ENSP00000355645	ACTA1	DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	MedlinePlus	CURATED	5
ENSP00000355645	ACTA1	DOID:0110927	Nemaline myopathy 3	MedlinePlus	CURATED	5
ENSP00000355645	ACTA1	DOID:3191	Nemaline myopathy	MedlinePlus	CURATED	5
ENSP00000355645	ACTA1	DOID:3191	Nemaline myopathy	UniProtKB-KW	CURATED	4
ENSP00000355672	IBA57	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000355672	IBA57	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000355675	GJC2	DOID:0060787	Hypomyelinating leukodystrophy 2	MedlinePlus	CURATED	5
ENSP00000355675	GJC2	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000355675	GJC2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000355675	GJC2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000355718	DLL1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000355741	COQ8A	DOID:0050730	Coenzyme Q10 deficiency disease	MedlinePlus	CURATED	5
ENSP00000355741	COQ8A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000355747	PSEN2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000355747	PSEN2	DOID:10652	Alzheimer's disease	MedlinePlus	CURATED	5
ENSP00000355747	PSEN2	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000355747	PSEN2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000355747	PSEN2	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000355747	PSEN2	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000355751	THBS2	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000355751	THBS2	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000355771	AFDN	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000355785	LEFTY2	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000355785	LEFTY2	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000355800	TMEM63A	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000355827	FBXO28	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000355865	PRKN	DOID:1024	Leprosy	MedlinePlus	CURATED	5
ENSP00000355865	PRKN	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000355865	PRKN	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000355865	PRKN	DOID:14330	Parkinson's disease	MedlinePlus	CURATED	5
ENSP00000355865	PRKN	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000355865	PRKN	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000355889	IARS2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000355889	IARS2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000355889	IARS2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000355890	EPRS1	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000355890	EPRS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000355893	SLC30A10	DOID:0080535	Hypermanganesemia with dystonia	MedlinePlus	CURATED	5
ENSP00000355893	SLC30A10	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000355893	SLC30A10	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000355893	SLC30A10	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000355896	TGFB2	DOID:0050466	Loeys-Dietz syndrome	MedlinePlus	CURATED	5
ENSP00000355896	TGFB2	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000355922	CENPF	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000355938	FLVCR1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000355938	FLVCR1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000355938	FLVCR1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000355938	FLVCR1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000355966	NEK2	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000355969	RD3	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000355969	RD3	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000355988	IRF6	DOID:0060055	Popliteal pterygium syndrome	MedlinePlus	CURATED	5
ENSP00000355988	IRF6	DOID:0060239	Van der Woude syndrome	MedlinePlus	CURATED	5
ENSP00000356024	CR2	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000356024	CR2	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000356024	CR2	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000356105	SLC41A1	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000356130	DSTYK	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000356130	DSTYK	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000356130	DSTYK	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000356156	PPP1R15B	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000356162	KISS1	DOID:0112308	Central precocious puberty	MedlinePlus	CURATED	5
ENSP00000356162	KISS1	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000356224	SYNE1	DOID:0111618	Autosomal recessive spinocerebellar ataxia 8	MedlinePlus	CURATED	5
ENSP00000356224	SYNE1	DOID:11726	Emery-Dreifuss muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000356224	SYNE1	DOID:11726	Emery-Dreifuss muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000356224	SYNE1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000356233	KDM5B	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000356237	SYT2	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000356247	LGR6	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000356257	LMOD1	DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome	MedlinePlus	CURATED	5
ENSP00000356257	LMOD1	DOID:0080072	Intestinal pseudo-obstruction	MedlinePlus	CURATED	5
ENSP00000356308	ULBP3	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000356310	RAET1L	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000356319	KIF14	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000356370	CRB1	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000356370	CRB1	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000356370	CRB1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000356370	CRB1	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000356370	CRB1	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000356379	ASPM	DOID:0070296	Primary autosomal recessive microcephaly	MedlinePlus	CURATED	5
ENSP00000356379	ASPM	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000356379	ASPM	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000356382	F13B	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000356382	F13B	DOID:2211	Factor XIII deficiency	MedlinePlus	CURATED	5
ENSP00000356385	CFHR2	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000356386	CFHR4	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000356395	CFHR3	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000356395	CFHR3	DOID:12554	hemolytic-uremic syndrome	UniProtKB-KW	CURATED	4
ENSP00000356399	CFH	DOID:0080301	Atypical hemolytic-uremic syndrome	MedlinePlus	CURATED	5
ENSP00000356399	CFH	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000356399	CFH	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000356399	CFH	DOID:12554	hemolytic-uremic syndrome	UniProtKB-KW	CURATED	4
ENSP00000356405	CDC73	DOID:1540	Parathyroid carcinoma	MedlinePlus	CURATED	5
ENSP00000356405	CDC73	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000356426	TAB2	DOID:0111785	Frontometaphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000356437	SASH1	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000356437	SASH1	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000356448	TPR	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000356465	RAB32	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000356480	RNF2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000356489	EPM2A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000356489	EPM2A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000356489	EPM2A	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000356489	EPM2A	DOID:3534	Lafora disease	MedlinePlus	CURATED	5
ENSP00000356505	NCF2	DOID:3265	Chronic granulomatous disease	MedlinePlus	CURATED	5
ENSP00000356505	NCF2	DOID:3265	Chronic granulomatous disease	UniProtKB-KW	CURATED	4
ENSP00000356505	NCF2	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000356530	RNASEL	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000356540	STX11	DOID:0050120	Hemophagocytic lymphohistiocytosis	UniProtKB-KW	CURATED	4
ENSP00000356545	CACNA1E	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000356563	PEX3	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000356563	PEX3	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000356576	HIVEP2	DOID:0070073	Autosomal dominant intellectual developmental disorder 43	MedlinePlus	CURATED	5
ENSP00000356587	NPHS2	DOID:2590	Familial nephrotic syndrome	MedlinePlus	CURATED	5
ENSP00000356607	RALGPS2	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000356671	SERPINC1	DOID:3755	Antithrombin III deficiency	MedlinePlus	CURATED	5
ENSP00000356694	FASLG	DOID:6688	Autoimmune lymphoproliferative syndrome	MedlinePlus	CURATED	5
ENSP00000356729	FMO3	DOID:0080361	Trimethylaminuria	MedlinePlus	CURATED	5
ENSP00000356771	F5	DOID:2216	Factor V deficiency	MedlinePlus	CURATED	5
ENSP00000356771	F5	DOID:2452	Thrombophilia	UniProtKB-KW	CURATED	4
ENSP00000356790	ATP1B1	DOID:11555	Fuchs' endothelial dystrophy	MedlinePlus	CURATED	5
ENSP00000356899	DDR2	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000356919	ATF6	DOID:13911	Achromatopsia	MedlinePlus	CURATED	5
ENSP00000356953	SDHC	DOID:6457	Cowden syndrome	MedlinePlus	CURATED	5
ENSP00000356953	SDHC	DOID:9253	Gastrointestinal stromal tumor	MedlinePlus	CURATED	5
ENSP00000356969	APOA2	AmyCo:22	Apolipoprotein A-II associated Amyloidosis	AmyCo	CURATED	4
ENSP00000356972	NDUFS2	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000356972	NDUFS2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000356972	NDUFS2	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000356978	PPOX	DOID:13268	Porphyria	MedlinePlus	CURATED	5
ENSP00000357051	PEX19	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000357051	PEX19	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000357052	DCAF8	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000357052	DCAF8	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000357079	CFAP45	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000357106	CADM3	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000357106	CADM3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000357106	CADM3	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000357218	NAXE	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000357265	SEMA4A	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000357265	SEMA4A	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000357265	SEMA4A	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000357265	SEMA4A	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000357283	LMNA	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000357283	LMNA	DOID:0050440	Familial partial lipodystrophy	MedlinePlus	CURATED	5
ENSP00000357283	LMNA	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000357283	LMNA	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000357283	LMNA	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000357283	LMNA	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000357283	LMNA	DOID:0081127	Mandibuloacral dysplasia	MedlinePlus	CURATED	5
ENSP00000357283	LMNA	DOID:0110640	Congenital muscular dystrophy due to LMNA mutation	MedlinePlus	CURATED	5
ENSP00000357283	LMNA	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000357283	LMNA	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000357283	LMNA	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000357283	LMNA	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000357283	LMNA	DOID:11726	Emery-Dreifuss muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000357283	LMNA	DOID:11726	Emery-Dreifuss muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000357283	LMNA	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000357283	LMNA	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000357283	LMNA	DOID:3911	Progeria	MedlinePlus	CURATED	5
ENSP00000357283	LMNA	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000357292	UBQLN4	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000357292	UBQLN4	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000357305	RIT1	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000357305	RIT1	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000357384	DPM3	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000357384	DPM3	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000357459	ADAR	DOID:0050629	Aicardi-Goutieres syndrome	MedlinePlus	CURATED	5
ENSP00000357459	ADAR	DOID:0050629	Aicardi-Goutieres syndrome	UniProtKB-KW	CURATED	4
ENSP00000357461	CHRNB2	DOID:0060681	Autosomal dominant nocturnal frontal lobe epilepsy	MedlinePlus	CURATED	5
ENSP00000357461	CHRNB2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000357470	IL6R	DOID:12169	Carpal tunnel syndrome	MedlinePlus	CURATED	5
ENSP00000357470	IL6R	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000357474	CEP85L	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000357480	NUS1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000357494	ROS1	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000357494	ROS1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000357535	ECHS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000357535	ECHS1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000357581	NKX6-2	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000357581	NKX6-2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000357655	CCN6	DOID:0090004	Progressive pseudorheumatoid arthropathy of childhood	MedlinePlus	CURATED	5
ENSP00000357655	CCN6	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000357731	LOR	DOID:0111339	Vohwinkel syndrome	MedlinePlus	CURATED	5
ENSP00000357731	LOR	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000357787	UROS	DOID:13268	Porphyria	MedlinePlus	CURATED	5
ENSP00000357789	FLG	DOID:3310	Atopic dermatitis	MedlinePlus	CURATED	5
ENSP00000357789	FLG	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000357798	MMP21	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000357798	MMP21	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000357838	OAT	DOID:1415	Gyrate atrophy	MedlinePlus	CURATED	5
ENSP00000357842	TUFT1	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000357869	PI4KB	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000357907	CDK19	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000357917	MLLT11	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000357980	HTRA1	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000357980	HTRA1	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000358033	PDSS2	DOID:0050730	Coenzyme Q10 deficiency disease	MedlinePlus	CURATED	5
ENSP00000358033	PDSS2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000358035	ADAMTSL4	DOID:0111148	Isolated ectopia lentis	MedlinePlus	CURATED	5
ENSP00000358045	ECM1	DOID:14498	Lipoid proteinosis	MedlinePlus	CURATED	5
ENSP00000358059	RTN4IP1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000358072	ATG5	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000358081	BAG3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000358081	BAG3	DOID:0080307	Myofibrillar myopathy	MedlinePlus	CURATED	5
ENSP00000358081	BAG3	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000358081	BAG3	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000358081	BAG3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000358081	BAG3	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000358081	BAG3	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000358081	BAG3	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000358142	SV2A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000358207	VAX1	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000358207	VAX1	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000358207	VAX1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000358217	PRDM13	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000358233	GPR89B	DOID:0060411	Chromosome 1q21.1 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000358238	GJA8	DOID:0060411	Chromosome 1q21.1 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000358238	GJA8	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000358238	GJA8	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000358247	FBXL4	DOID:0080131	Mitochondrial DNA depletion syndrome 13	MedlinePlus	CURATED	5
ENSP00000358247	FBXL4	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000358262	CHD1L	DOID:0060411	Chromosome 1q21.1 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000358272	NDUFAF4	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000358307	NHLRC2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000358312	PEX11B	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000358312	PEX11B	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000358335	MAP3K7	DOID:0111785	Frontometaphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000358423	RRAGD	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000358451	GDAP2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000358466	RAB39B	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000358474	BRCC3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000358488	MTCP1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000358496	CMC4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000358513	CNR1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000358513	CNR1	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000358519	NHLH2	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000358525	NGF	DOID:0070145	Hereditary sensory and autonomic neuropathy type 5	MedlinePlus	CURATED	5
ENSP00000358525	NGF	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000358525	NGF	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000358532	RBM20	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000358532	RBM20	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000358548	NRAS	DOID:0080796	Core binding factor acute myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000358548	NRAS	DOID:0111162	Epidermal nevus	MedlinePlus	CURATED	5
ENSP00000358548	NRAS	DOID:0111359	Large congenital melanocytic nevus	MedlinePlus	CURATED	5
ENSP00000358548	NRAS	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000358548	NRAS	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000358548	NRAS	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000358548	NRAS	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000358548	NRAS	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000358548	NRAS	DOID:6688	Autoimmune lymphoproliferative syndrome	MedlinePlus	CURATED	5
ENSP00000358549	RARS2	DOID:0060264	Pontocerebellar hypoplasia	MedlinePlus	CURATED	5
ENSP00000358549	RARS2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000358563	DKC1	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000358563	DKC1	DOID:2729	Dyskeratosis congenita	MedlinePlus	CURATED	5
ENSP00000358563	DKC1	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000358563	DKC1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000358565	SLC35A1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000358582	AP4B1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000358582	AP4B1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000358677	TBX18	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000358703	RIPPLY2	DOID:0050568	Spondylocostal dysostosis	MedlinePlus	CURATED	5
ENSP00000358777	ATP6AP1	DOID:3144	Cutis laxa	MedlinePlus	CURATED	5
ENSP00000358777	ATP6AP1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000358795	NEURL1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000358799	RBM15	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000358820	EPS8L3	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000358831	ELOVL4	DOID:0050817	Stargardt disease	MedlinePlus	CURATED	5
ENSP00000358831	ELOVL4	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000358831	ELOVL4	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000358831	ELOVL4	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000358831	ELOVL4	DOID:4448	Macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000358857	EMD	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000358857	EMD	DOID:11726	Emery-Dreifuss muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000358857	EMD	DOID:11726	Emery-Dreifuss muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000358866	FLNA	DOID:0050454	Periventricular nodular heterotopia	MedlinePlus	CURATED	5
ENSP00000358866	FLNA	DOID:0080072	Intestinal pseudo-obstruction	MedlinePlus	CURATED	5
ENSP00000358866	FLNA	DOID:0111765	X-linked cardiac valvular dysplasia	MedlinePlus	CURATED	5
ENSP00000358866	FLNA	DOID:0111783	Otopalatodigital syndrome type 1	MedlinePlus	CURATED	5
ENSP00000358866	FLNA	DOID:0111784	Otopalatodigital syndrome type 2	MedlinePlus	CURATED	5
ENSP00000358866	FLNA	DOID:0111785	Frontometaphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000358866	FLNA	DOID:0111788	Melnick-Needles syndrome	MedlinePlus	CURATED	5
ENSP00000358866	FLNA	DOID:0112149	Terminal osseous dysplasia	MedlinePlus	CURATED	5
ENSP00000358866	FLNA	DOID:14711	FG syndrome	MedlinePlus	CURATED	5
ENSP00000358894	CNNM2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000358918	SUFU	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000358918	SUFU	DOID:2512	Nevoid basal cell carcinoma syndrome	MedlinePlus	CURATED	5
ENSP00000358939	SARS1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000358963	HTR1B	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000358965	C1orf194	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000358965	C1orf194	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000358965	C1orf194	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000358966	IMPG1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000358967	OPN1LW	DOID:13399	Color blindness	MedlinePlus	CURATED	5
ENSP00000358983	NFKB2	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000358983	NFKB2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000358994	MYO6	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000358994	MYO6	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000358994	MYO6	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000359000	GBF1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000359000	GBF1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000359000	GBF1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000359019	PITX3	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000359019	PITX3	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000359077	L1CAM	DOID:0060246	MASA syndrome	MedlinePlus	CURATED	5
ENSP00000359077	L1CAM	DOID:10487	Hirschsprung's disease	UniProtKB-KW	CURATED	4
ENSP00000359077	L1CAM	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000359077	L1CAM	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000359114	COL11A1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000359114	COL11A1	DOID:0060465	Fibrochondrogenesis	MedlinePlus	CURATED	5
ENSP00000359114	COL11A1	DOID:0080046	Stickler syndrome	MedlinePlus	CURATED	5
ENSP00000359114	COL11A1	DOID:12169	Carpal tunnel syndrome	MedlinePlus	CURATED	5
ENSP00000359114	COL11A1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000359114	COL11A1	DOID:8398	Osteoarthritis	MedlinePlus	CURATED	5
ENSP00000359114	COL11A1	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000359151	DBT	DOID:9269	Maple syrup urine disease	MedlinePlus	CURATED	5
ENSP00000359151	DBT	DOID:9269	Maple syrup urine disease	UniProtKB-KW	CURATED	4
ENSP00000359172	SLC35A3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000359211	DPYD	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000359211	DPYD	DOID:14218	Dihydropyrimidine dehydrogenase deficiency	MedlinePlus	CURATED	5
ENSP00000359215	TLX1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000359224	ALG14	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000359224	ALG14	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000359224	ALG14	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000359245	ABCA4	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000359245	ABCA4	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000359245	ABCA4	DOID:0050817	Stargardt disease	MedlinePlus	CURATED	5
ENSP00000359245	ABCA4	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000359245	ABCA4	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000359245	ABCA4	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000359245	ABCA4	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000359245	ABCA4	DOID:4448	Macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000359285	CHRNA4	DOID:0060681	Autosomal dominant nocturnal frontal lobe epilepsy	MedlinePlus	CURATED	5
ENSP00000359285	CHRNA4	DOID:0090053	Episodic kinesigenic dyskinesia 1	MedlinePlus	CURATED	5
ENSP00000359285	CHRNA4	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000359297	NSDHL	DOID:0111822	CHILD syndrome	MedlinePlus	CURATED	5
ENSP00000359319	PAX2	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000359319	PAX2	DOID:0090006	Renal coloboma syndrome	MedlinePlus	CURATED	5
ENSP00000359319	PAX2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000359337	GABRA3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000359345	RPL5	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000359345	RPL5	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000359393	HMGB3	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000359393	HMGB3	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000359393	HMGB3	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000359423	MTM1	DOID:0111225	Centronuclear myopathy X-linked	MedlinePlus	CURATED	5
ENSP00000359454	HFM1	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000359469	ZNF644	DOID:11830	Myopia	MedlinePlus	CURATED	5
ENSP00000359489	AFF2	DOID:0080984	X-linked intellectual developmental disorder 109	MedlinePlus	CURATED	5
ENSP00000359506	FMR1	DOID:0050879	Fragile X-associated tremor/ataxia syndrome	MedlinePlus	CURATED	5
ENSP00000359506	FMR1	DOID:0080857	Primary ovarian insufficiency 1	MedlinePlus	CURATED	5
ENSP00000359506	FMR1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000359506	FMR1	DOID:14261	Fragile X syndrome	MedlinePlus	CURATED	5
ENSP00000359506	FMR1	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000359567	SOX3	DOID:0060857	Septooptic dysplasia	MedlinePlus	CURATED	5
ENSP00000359567	SOX3	DOID:0111760	46,XX sex reversal	MedlinePlus	CURATED	5
ENSP00000359567	SOX3	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000359583	HPSE2	DOID:0050816	Urofacial syndrome	MedlinePlus	CURATED	5
ENSP00000359583	HPSE2	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000359645	RBMX	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000359645	RBMX	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000359655	EYS	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000359655	EYS	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000359655	EYS	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000359663	CD40LG	DOID:6620	X-linked hyper IgM syndrome	MedlinePlus	CURATED	5
ENSP00000359665	PI4K2A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000359680	HOGA1	DOID:2977	Primary hyperoxaluria	MedlinePlus	CURATED	5
ENSP00000359729	SLC9A6	DOID:0060825	Christianson syndrome	MedlinePlus	CURATED	5
ENSP00000359729	SLC9A6	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000359848	PIGK	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000359864	GPC4	DOID:0060248	Simpson-Golabi-Behmel syndrome type 1	MedlinePlus	CURATED	5
ENSP00000359864	GPC4	DOID:0060254	Robinow syndrome	MedlinePlus	CURATED	5
ENSP00000359871	ACADM	DOID:0080153	Medium chain acyl-CoA dehydrogenase deficiency	MedlinePlus	CURATED	5
ENSP00000359939	EXOSC1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000359940	IGSF1	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000359940	IGSF1	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000359956	ELOVL5	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000359956	ELOVL5	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000360060	FRAT1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000360107	EFHC1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000360107	EFHC1	DOID:4890	Juvenile myoclonic epilepsy	MedlinePlus	CURATED	5
ENSP00000360108	DNAJC6	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000360108	DNAJC6	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000360120	ROR1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000360124	PGM1	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000360124	PGM1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000360141	GNAS	DOID:0111535	Progressive osseous heteroplasia	MedlinePlus	CURATED	5
ENSP00000360141	GNAS	DOID:0111622	ACTH-independent macronodular adrenal hyperplasia	MedlinePlus	CURATED	5
ENSP00000360141	GNAS	DOID:12252	DOID:12252	UniProtKB-KW	CURATED	4
ENSP00000360141	GNAS	DOID:12252	DOID:12252	UniProtKB-KW	CURATED	4
ENSP00000360141	GNAS	DOID:12252	DOID:12252	UniProtKB-KW	CURATED	4
ENSP00000360141	GNAS	DOID:12252	DOID:12252	UniProtKB-KW	CURATED	4
ENSP00000360141	GNAS	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000360141	GNAS	DOID:1858	McCune Albright syndrome	MedlinePlus	CURATED	5
ENSP00000360141	GNAS	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000360141	GNAS	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000360154	OCRL	DOID:0050699	Dent disease	MedlinePlus	CURATED	5
ENSP00000360154	OCRL	DOID:1056	Oculocerebrorenal syndrome	MedlinePlus	CURATED	5
ENSP00000360154	OCRL	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000360158	PKHD1	DOID:0080322	Polycystic kidney disease	MedlinePlus	CURATED	5
ENSP00000360170	ANGPTL3	DOID:1386	Abetalipoproteinemia	MedlinePlus	CURATED	5
ENSP00000360195	KANK4	DOID:11555	Fuchs' endothelial dystrophy	MedlinePlus	CURATED	5
ENSP00000360217	RHAG	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000360250	ENTPD1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000360250	ENTPD1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000360262	FGGY	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000360262	FGGY	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000360266	JUN	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000360268	ALDH18A1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000360268	ALDH18A1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000360268	ALDH18A1	DOID:3144	Cutis laxa	MedlinePlus	CURATED	5
ENSP00000360269	TACSTD2	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000360280	DAB1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000360280	DAB1	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000360327	PARS2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000360423	CACNA1B	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000360431	PLCE1	DOID:2590	Familial nephrotic syndrome	MedlinePlus	CURATED	5
ENSP00000360431	PLCE1	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000360472	LGI1	DOID:0060748	Familial temporal lobe epilepsy 1	MedlinePlus	CURATED	5
ENSP00000360472	LGI1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000360492	NDUFA1	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000360492	NDUFA1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000360493	RUNX2	DOID:13994	Cleidocranial dysplasia	MedlinePlus	CURATED	5
ENSP00000360497	RNF113A	DOID:0111866	Trichothiodystrophy	MedlinePlus	CURATED	5
ENSP00000360502	PDE6C	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000360502	PDE6C	DOID:13911	Achromatopsia	MedlinePlus	CURATED	5
ENSP00000360522	RBP4	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000360522	RBP4	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000360522	RBP4	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000360530	NSMF	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000360530	NSMF	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000360530	NSMF	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000360541	CPT2	DOID:0060235	Carnitine palmitoyltransferase II deficiency	MedlinePlus	CURATED	5
ENSP00000360593	COA7	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000360593	COA7	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000360593	COA7	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000360593	COA7	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000360608	GRIN1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000360623	ORC1	DOID:0060306	Meier-Gorlin syndrome	MedlinePlus	CURATED	5
ENSP00000360638	DPM1	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000360638	DPM1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000360662	ADNP	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000360662	ADNP	DOID:0070058	Helsmoortel-Van Der Aa Syndrome	MedlinePlus	CURATED	5
ENSP00000360761	AGPAT2	DOID:0050585	Congenital generalized lipodystrophy	MedlinePlus	CURATED	5
ENSP00000360761	AGPAT2	DOID:0050585	Congenital generalized lipodystrophy	UniProtKB-KW	CURATED	4
ENSP00000360761	AGPAT2	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000360762	ANKRD1	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000360777	INPP5E	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000360777	INPP5E	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000360782	PMPCA	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000360793	KIF20B	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000360797	CARD9	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000360798	EPS15	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000360806	KCNB1	DOID:0080461	Developmental and epileptic encephalopathy 26	MedlinePlus	CURATED	5
ENSP00000360806	KCNB1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000360811	LHX3	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000360822	KCNT1	DOID:0060681	Autosomal dominant nocturnal frontal lobe epilepsy	MedlinePlus	CURATED	5
ENSP00000360822	KCNT1	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000360822	KCNT1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000360855	SLC16A12	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000360882	COL5A1	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000360882	COL5A1	DOID:12169	Carpal tunnel syndrome	MedlinePlus	CURATED	5
ENSP00000360882	COL5A1	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000360882	COL5A1	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000360944	STIL	DOID:0070296	Primary autosomal recessive microcephaly	MedlinePlus	CURATED	5
ENSP00000360944	STIL	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000360944	STIL	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000360985	ARFGEF2	DOID:0050454	Periventricular nodular heterotopia	MedlinePlus	CURATED	5
ENSP00000360997	ADAMTS13	DOID:10772	Thrombotic thrombocytopenic purpura	MedlinePlus	CURATED	5
ENSP00000361021	PTEN	DOID:0050657	Bannayan-Riley-Ruvalcaba syndrome	MedlinePlus	CURATED	5
ENSP00000361021	PTEN	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000361021	PTEN	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000361021	PTEN	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000361021	PTEN	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000361021	PTEN	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000361021	PTEN	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000361021	PTEN	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000361021	PTEN	DOID:5520	Head and neck squamous cell carcinoma	MedlinePlus	CURATED	5
ENSP00000361021	PTEN	DOID:6457	Cowden syndrome	MedlinePlus	CURATED	5
ENSP00000361042	SURF1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000361042	SURF1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000361042	SURF1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000361042	SURF1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000361042	SURF1	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000361042	SURF1	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000361042	SURF1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000361060	POMGNT1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000361060	POMGNT1	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000361060	POMGNT1	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000361060	POMGNT1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000361060	POMGNT1	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000361060	POMGNT1	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000361066	NCOA3	DOID:8398	Osteoarthritis	MedlinePlus	CURATED	5
ENSP00000361107	BMPR1A	DOID:0050787	Juvenile polyposis syndrome	MedlinePlus	CURATED	5
ENSP00000361141	OPN4	DOID:0060167	Seasonal affective disorder	MedlinePlus	CURATED	5
ENSP00000361162	TOE1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000361173	KCNE5	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000361173	KCNE5	DOID:10983	Alport syndrome	UniProtKB-KW	CURATED	4
ENSP00000361173	KCNE5	DOID:2373	Hereditary elliptocytosis	UniProtKB-KW	CURATED	4
ENSP00000361173	KCNE5	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000361186	TP53RK	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000361202	IRS4	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000361214	NRG3	DOID:10487	Hirschsprung's disease	MedlinePlus	CURATED	5
ENSP00000361238	RSPH9	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000361238	RSPH9	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000361287	MAT1A	DOID:0050544	Hypermethioninemia	MedlinePlus	CURATED	5
ENSP00000361302	POMT1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000361302	POMT1	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000361302	POMT1	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000361302	POMT1	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000361302	POMT1	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000361310	POLH	DOID:0050427	Xeroderma pigmentosum	MedlinePlus	CURATED	5
ENSP00000361310	POLH	DOID:0050427	Xeroderma pigmentosum	UniProtKB-KW	CURATED	4
ENSP00000361359	CD40	DOID:12361	Graves' disease	MedlinePlus	CURATED	5
ENSP00000361400	SFTPA2	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000361405	MMP9	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000361423	ABL1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000361423	ABL1	DOID:8552	Chronic myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000361433	EXOSC2	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000361446	POLR3A	DOID:0060794	Hypomyelinating leukodystrophy 7	MedlinePlus	CURATED	5
ENSP00000361446	POLR3A	DOID:0081333	Wiedemann-Rautenstrauch syndrome	MedlinePlus	CURATED	5
ENSP00000361446	POLR3A	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000361446	POLR3A	DOID:8536	Herpes zoster	MedlinePlus	CURATED	5
ENSP00000361471	ASS1	DOID:9273	Citrullinemia	MedlinePlus	CURATED	5
ENSP00000361512	PRPS1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000361512	PRPS1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000361512	PRPS1	DOID:0050647	Arts syndrome	MedlinePlus	CURATED	5
ENSP00000361512	PRPS1	DOID:0111260	Phosphoribosylpyrophosphate synthetase superactivity	MedlinePlus	CURATED	5
ENSP00000361512	PRPS1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000361512	PRPS1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000361512	PRPS1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000361512	PRPS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000361512	PRPS1	DOID:13189	Gout	UniProtKB-KW	CURATED	4
ENSP00000361512	PRPS1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000361548	MPL	DOID:2224	Essential thrombocythemia	MedlinePlus	CURATED	5
ENSP00000361548	MPL	DOID:4971	Myelofibrosis	MedlinePlus	CURATED	5
ENSP00000361562	CTSA	DOID:0080540	Galactosialidosis	MedlinePlus	CURATED	5
ENSP00000361642	PPCS	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000361658	NUP188	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000361658	NUP188	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000361667	DOLK	DOID:0080565	Congenital disorder of glycosylation Im	MedlinePlus	CURATED	5
ENSP00000361667	DOLK	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000361777	SET	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000361800	WDR34	DOID:0050592	Asphyxiating thoracic dystrophy	MedlinePlus	CURATED	5
ENSP00000361834	COL9A2	DOID:0080046	Stickler syndrome	MedlinePlus	CURATED	5
ENSP00000361834	COL9A2	DOID:12721	Multiple epiphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000361834	COL9A2	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000361845	ZMPSTE24	DOID:0081127	Mandibuloacral dysplasia	MedlinePlus	CURATED	5
ENSP00000361867	SEMG1	AmyCo:73	Senile Seminal Vesicle Amyloidosis	AmyCo	CURATED	4
ENSP00000361894	GNMT	DOID:0050544	Hypermethioninemia	MedlinePlus	CURATED	5
ENSP00000361894	GNMT	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000361895	MFSD2A	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000361926	CNPY3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000361965	ADA	DOID:5810	Adenosine deaminase deficiency	MedlinePlus	CURATED	5
ENSP00000361965	ADA	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000361965	ADA	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000361993	TIMM8A	DOID:0050757	deafness-dystonia-optic neuronopathy syndrome	MedlinePlus	CURATED	5
ENSP00000361993	TIMM8A	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000362014	DNM1	DOID:0050561	Lennox-Gastaut syndrome	MedlinePlus	CURATED	5
ENSP00000362014	DNM1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000362049	GUCA1A-2	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000362071	JPH2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000362071	JPH2	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000362092	RRAGC	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000362095	SRPX2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000362125	PCDH19	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000362135	YRDC	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000362139	EPHA10	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000362195	CSF3R	DOID:0050590	Severe congenital neutropenia	MedlinePlus	CURATED	5
ENSP00000362205	TREM2	DOID:0090112	Nasu-Hakola disease	MedlinePlus	CURATED	5
ENSP00000362205	TREM2	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000362205	TREM2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000362205	TREM2	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000362207	CHST3	DOID:0050813	Spondyloepiphyseal dysplasia with congenital joint dislocations	MedlinePlus	CURATED	5
ENSP00000362238	POF1B	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000362273	ADPRHL2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000362285	SLC29A3	DOID:0111278	histiocytosis-lymphadenopathy plus syndrome	MedlinePlus	CURATED	5
ENSP00000362298	SGPL1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000362299	ENG	DOID:1270	Hereditary hemorrhagic telangiectasia	MedlinePlus	CURATED	5
ENSP00000362299	ENG	DOID:14557	Primary pulmonary hypertension	MedlinePlus	CURATED	5
ENSP00000362300	AGO1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000362340	NCDN	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000362393	TBX22	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000362399	STXBP1	DOID:0050561	Lennox-Gastaut syndrome	MedlinePlus	CURATED	5
ENSP00000362399	STXBP1	DOID:0080436	Developmental and epileptic encephalopathy 4	MedlinePlus	CURATED	5
ENSP00000362399	STXBP1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000362410	MAFB	DOID:12557	Duane retraction syndrome	MedlinePlus	CURATED	5
ENSP00000362410	MAFB	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000362413	PGK1	DOID:0111933	Phosphoglycerate kinase 1 deficiency	MedlinePlus	CURATED	5
ENSP00000362413	PGK1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000362424	TRAF3IP1	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000362424	TRAF3IP1	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000362441	ATRX	DOID:0110030	Alpha thalassemia-X-linked intellectual disability syndrome	MedlinePlus	CURATED	5
ENSP00000362464	GJB3	DOID:0050467	Erythrokeratodermia variabilis	MedlinePlus	CURATED	5
ENSP00000362464	GJB3	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000362464	GJB3	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000362464	GJB3	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000362566	HPCA	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000362576	YARS1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000362576	YARS1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000362576	YARS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000362576	YARS1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000362608	PIM1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000362643	PHKA1	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000362674	HDAC8	DOID:11725	Cornelia de Lange syndrome	MedlinePlus	CURATED	5
ENSP00000362674	HDAC8	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000362680	SRC	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000362690	NR5A1	DOID:0111760	46,XX sex reversal	MedlinePlus	CURATED	5
ENSP00000362690	NR5A1	DOID:14448	46,XY sex reversal	MedlinePlus	CURATED	5
ENSP00000362690	NR5A1	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000362727	DENND1A	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000362734	CRB2	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000362777	ATOH7	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000362777	ATOH7	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000362924	GSN	DOID:0050637	Finnish type amyloidosis	AmyCo	CURATED	4
ENSP00000362924	GSN	DOID:0050637	Finnish type amyloidosis	MedlinePlus	CURATED	5
ENSP00000362924	GSN	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000362994	TRAF1	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000362994	TRAF1	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000363068	PCDH15	DOID:0050439	Usher syndrome	MedlinePlus	CURATED	5
ENSP00000363068	PCDH15	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000363068	PCDH15	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000363068	PCDH15	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000363071	DES	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000363071	DES	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000363071	DES	DOID:0080307	Myofibrillar myopathy	MedlinePlus	CURATED	5
ENSP00000363071	DES	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000363071	DES	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000363071	DES	DOID:397	Restrictive cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000363071	DES	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000363089	TLR4	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000363092	PRKG1	DOID:14004	Thoracic aortic aneurysm	MedlinePlus	CURATED	5
ENSP00000363092	PRKG1	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000363117	FGR	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000363123	AHDC1	DOID:0070055	Xia-Gibbs Syndrome	MedlinePlus	CURATED	5
ENSP00000363193	MED12	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000363193	MED12	DOID:14711	FG syndrome	MedlinePlus	CURATED	5
ENSP00000363193	MED12	DOID:3012	Li-Fraumeni syndrome	MedlinePlus	CURATED	5
ENSP00000363229	SLC18A3	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000363232	KIF12	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000363260	PIGV	DOID:0070431	Hyperphosphatasia with impaired intellectual development syndrome	MedlinePlus	CURATED	5
ENSP00000363313	PRPF4	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000363318	IL2RG	DOID:0060013	X-linked severe combined immunodeficiency	MedlinePlus	CURATED	5
ENSP00000363318	IL2RG	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000363329	SLC31A1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000363329	SLC31A1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000363377	FOXO4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000363435	ITPR3	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000363435	ITPR3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000363435	ITPR3	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000363435	ITPR3	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000363458	LDLRAP1	DOID:1168	Familial hyperlipidemia	UniProtKB-KW	CURATED	4
ENSP00000363458	LDLRAP1	DOID:13810	Familial hypercholesterolemia	MedlinePlus	CURATED	5
ENSP00000363458	LDLRAP1	DOID:1936	Atherosclerosis	UniProtKB-KW	CURATED	4
ENSP00000363492	GDF5	DOID:8398	Osteoarthritis	MedlinePlus	CURATED	5
ENSP00000363571	MUSK	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000363571	MUSK	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000363603	FUCA1	DOID:14500	Fucosidosis	MedlinePlus	CURATED	5
ENSP00000363661	IGBP1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000363667	PTPN3	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000363680	EDA	DOID:14793	Hypohidrotic ectodermal dysplasia	MedlinePlus	CURATED	5
ENSP00000363708	BMPR2	DOID:14557	Primary pulmonary hypertension	MedlinePlus	CURATED	5
ENSP00000363708	BMPR2	DOID:5453	Pulmonary venoocclusive disease	MedlinePlus	CURATED	5
ENSP00000363770	C1QC	DOID:11949	Creutzfeldt-Jakob disease	AmyCo	CURATED	4
ENSP00000363770	C1QC	DOID:14250	Down syndrome	AmyCo	CURATED	3
ENSP00000363773	C1QA	DOID:11949	Creutzfeldt-Jakob disease	AmyCo	CURATED	4
ENSP00000363773	C1QA	DOID:14250	Down syndrome	AmyCo	CURATED	3
ENSP00000363779	ELP1	DOID:11589	Riley-Day syndrome	MedlinePlus	CURATED	5
ENSP00000363779	ELP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000363779	ELP1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000363822	AR	DOID:0050801	Androgenic alopecia	MedlinePlus	CURATED	5
ENSP00000363822	AR	DOID:0060161	Kennedy's disease	MedlinePlus	CURATED	5
ENSP00000363822	AR	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000363822	AR	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000363822	AR	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000363822	AR	DOID:3765	Pseudohermaphroditism	UniProtKB-KW	CURATED	4
ENSP00000363822	AR	DOID:4674	Androgen insensitivity syndrome	MedlinePlus	CURATED	5
ENSP00000363824	TMEM38B	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000363824	TMEM38B	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000363827	HSPG2	AmyCo:29	AA Amyloidosis	AmyCo	CURATED	4
ENSP00000363827	HSPG2	AmyCo:8	Immunoglobulin Light-chain Amyloidosis	AmyCo	CURATED	4
ENSP00000363827	HSPG2	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	AmyCo	CURATED	4
ENSP00000363827	HSPG2	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000363827	HSPG2	DOID:0090005	Schwartz-Jampel syndrome 1	MedlinePlus	CURATED	5
ENSP00000363827	HSPG2	DOID:10652	Alzheimer's disease	AmyCo	CURATED	4
ENSP00000363827	HSPG2	DOID:9352	Type 2 diabetes mellitus	AmyCo	CURATED	4
ENSP00000363840	COL11A2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000363840	COL11A2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000363840	COL11A2	DOID:0060465	Fibrochondrogenesis	MedlinePlus	CURATED	5
ENSP00000363840	COL11A2	DOID:0080026	Otospondylomegaepiphyseal dysplasia, autosomal recessive	MedlinePlus	CURATED	5
ENSP00000363840	COL11A2	DOID:0080046	Stickler syndrome	MedlinePlus	CURATED	5
ENSP00000363840	COL11A2	DOID:0080677	Otospondylomegaepiphyseal dysplasia, autosomal dominant	MedlinePlus	CURATED	5
ENSP00000363852	SLC44A1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000363868	ABCA1	DOID:0060426	Chromosome 19p13.13 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000363868	ABCA1	DOID:0080957	Primary hypoalphalipoproteinemia 1	MedlinePlus	CURATED	5
ENSP00000363868	ABCA1	DOID:1388	Tangier disease	MedlinePlus	CURATED	5
ENSP00000363868	ABCA1	DOID:1936	Atherosclerosis	UniProtKB-KW	CURATED	4
ENSP00000363944	LAS1L	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000363973	ALPL	DOID:14213	Hypophosphatasia	MedlinePlus	CURATED	5
ENSP00000364000	COL5A2	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000364000	COL5A2	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000364003	AMER1	DOID:2154	Nephroblastoma	MedlinePlus	CURATED	5
ENSP00000364016	PSMB8	DOID:0050553	proteasome-associated autoinflammatory syndrome 1	MedlinePlus	CURATED	5
ENSP00000364028	ECE1	DOID:0060410	Chromosome 1p36 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000364028	ECE1	DOID:10487	Hirschsprung's disease	UniProtKB-KW	CURATED	4
ENSP00000364032	TAP2	DOID:0060009	MHC class I deficiency	MedlinePlus	CURATED	5
ENSP00000364076	HLA-DQA2	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000364080	HLA-DQB1	DOID:10608	Celiac disease	MedlinePlus	CURATED	5
ENSP00000364080	HLA-DQB1	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000364080	HLA-DQB1	DOID:8881	Rosacea	MedlinePlus	CURATED	5
ENSP00000364080	HLA-DQB1	DOID:8986	Narcolepsy	MedlinePlus	CURATED	5
ENSP00000364080	HLA-DQB1	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000364080	HLA-DQB1	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000364114	HLA-DRB5	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000364163	NOTCH4	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000364193	MAGED2	DOID:445	Bartter disease	UniProtKB-KW	CURATED	4
ENSP00000364204	PINK1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000364204	PINK1	DOID:14330	Parkinson's disease	MedlinePlus	CURATED	5
ENSP00000364204	PINK1	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000364265	FOXE1	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000364270	XPA	DOID:0050427	Xeroderma pigmentosum	MedlinePlus	CURATED	5
ENSP00000364270	XPA	DOID:0050427	Xeroderma pigmentosum	UniProtKB-KW	CURATED	4
ENSP00000364277	FGD1	DOID:6683	X-linked Aarskog syndrome	MedlinePlus	CURATED	5
ENSP00000364293	TSR2	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000364293	TSR2	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000364346	ZNF341	DOID:3261	Hyper IgE recurrent infection syndrome 1	MedlinePlus	CURATED	5
ENSP00000364404	DCAF17	DOID:0112264	Woodhouse-Sakati syndrome	MedlinePlus	CURATED	5
ENSP00000364404	DCAF17	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000364404	DCAF17	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000364412	HSD17B3	DOID:0112248	17-beta hydroxysteroid dehydrogenase 3 deficiency	MedlinePlus	CURATED	5
ENSP00000364412	HSD17B3	DOID:3765	Pseudohermaphroditism	UniProtKB-KW	CURATED	4
ENSP00000364464	AOPEP	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000364464	AOPEP	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000364486	FBP2	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000364490	ALDH4A1	DOID:0080541	Hyperprolinemia	MedlinePlus	CURATED	5
ENSP00000364524	PAX7	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000364649	SDHB	DOID:0050773	Paraganglioma	MedlinePlus	CURATED	5
ENSP00000364649	SDHB	DOID:6457	Cowden syndrome	MedlinePlus	CURATED	5
ENSP00000364649	SDHB	DOID:9253	Gastrointestinal stromal tumor	MedlinePlus	CURATED	5
ENSP00000364694	ASPN	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000364699	SDHD	DOID:0050773	Paraganglioma	MedlinePlus	CURATED	5
ENSP00000364699	SDHD	DOID:6457	Cowden syndrome	MedlinePlus	CURATED	5
ENSP00000364699	SDHD	DOID:9253	Gastrointestinal stromal tumor	MedlinePlus	CURATED	5
ENSP00000364709	F10	DOID:2222	Factor X deficiency	MedlinePlus	CURATED	5
ENSP00000364731	F7	DOID:2215	Factor VII deficiency	MedlinePlus	CURATED	5
ENSP00000364782	NEU1	DOID:3343	Glycoproteinosis	MedlinePlus	CURATED	5
ENSP00000364801	HSPA1B	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000364815	VARS1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000364831	CLCNKB	DOID:0050450	Gitelman syndrome	MedlinePlus	CURATED	5
ENSP00000364831	CLCNKB	DOID:445	Bartter disease	MedlinePlus	CURATED	5
ENSP00000364831	CLCNKB	DOID:445	Bartter disease	UniProtKB-KW	CURATED	4
ENSP00000364839	ASXL1	DOID:0111536	Buschke-Ollendorff syndrome	MedlinePlus	CURATED	5
ENSP00000364839	ASXL1	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000364839	ASXL1	DOID:349	Systemic mastocytosis	MedlinePlus	CURATED	5
ENSP00000364855	MSH5	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000364860	ROR2	DOID:0060254	Robinow syndrome	MedlinePlus	CURATED	5
ENSP00000364864	KIF3B	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000364883	AUH	DOID:0110002	3-methylglutaconic aciduria type 1	MedlinePlus	CURATED	5
ENSP00000364902	POFUT1	DOID:0060256	Dowling-Degos disease	MedlinePlus	CURATED	5
ENSP00000364929	ING1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000364979	COL4A1	DOID:0090125	Brain small vessel disease 1	MedlinePlus	CURATED	5
ENSP00000364979	COL4A1	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000365012	HCK	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000365042	CSNK2B	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000365049	ACBD5	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000365162	MYLK2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000365256	CLCN5	DOID:0050336	Hypophosphatemia	MedlinePlus	CURATED	5
ENSP00000365256	CLCN5	DOID:0050699	Dent disease	MedlinePlus	CURATED	5
ENSP00000365301	FGF14	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000365301	FGF14	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000365301	FGF14	DOID:963	Episodic ataxia	MedlinePlus	CURATED	5
ENSP00000365380	FOXP3	DOID:0090110	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	MedlinePlus	CURATED	5
ENSP00000365380	FOXP3	DOID:7188	Autoimmune thyroiditis	MedlinePlus	CURATED	5
ENSP00000365380	FOXP3	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000365380	FOXP3	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000365388	PDSS1	DOID:0050730	Coenzyme Q10 deficiency disease	MedlinePlus	CURATED	5
ENSP00000365402	HLA-C	DOID:9008	Psoriatic arthritis	MedlinePlus	CURATED	5
ENSP00000365402	HLA-C	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000365435	TNFRSF1B	DOID:8986	Narcolepsy	MedlinePlus	CURATED	5
ENSP00000365441	CACNA1F	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000365441	CACNA1F	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000365441	CACNA1F	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000365462	PCCA	DOID:14701	Propionic acidemia	MedlinePlus	CURATED	5
ENSP00000365465	CDSN	DOID:0110699	Hypotrichosis 2	AmyCo	CURATED	4
ENSP00000365465	CDSN	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000365514	ZIC2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000365514	ZIC2	DOID:4621	Holoprosencephaly	MedlinePlus	CURATED	5
ENSP00000365514	ZIC2	DOID:4621	Holoprosencephaly	UniProtKB-KW	CURATED	4
ENSP00000365625	DHX16	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000365643	DOCK9	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000365663	NPPA	AmyCo:37	Isolated Atrial Amyloidosis	AmyCo	CURATED	4
ENSP00000365663	NPPA	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000365663	NPPA	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000365663	NPPA	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000365687	PTF1A	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000365692	PIM2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000365725	ABHD12	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000365725	ABHD12	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000365725	ABHD12	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000365725	ABHD12	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000365770	MTHFR	DOID:0060668	Anencephaly	MedlinePlus	CURATED	5
ENSP00000365770	MTHFR	DOID:0080016	Spina bifida	MedlinePlus	CURATED	5
ENSP00000365770	MTHFR	DOID:9263	Homocystinuria	MedlinePlus	CURATED	5
ENSP00000365770	MTHFR	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000365782	CEP78	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000365851	BMI1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000365858	GATA1	DOID:0111767	X-linked thrombocytopenia with beta-thalassemia	MedlinePlus	CURATED	5
ENSP00000365858	GATA1	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000365858	GATA1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000365891	WAS	DOID:0050590	Severe congenital neutropenia	MedlinePlus	CURATED	5
ENSP00000365891	WAS	DOID:9169	Wiskott-Aldrich syndrome	MedlinePlus	CURATED	5
ENSP00000365899	VSX1	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000366024	HLA-G	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000366093	RORB	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000366118	SSX1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000366203	C1orf127	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000366275	CNNM4	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000366275	CNNM4	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000366275	CNNM4	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000366288	SLITRK1	DOID:11119	Gilles de la Tourette syndrome	MedlinePlus	CURATED	5
ENSP00000366307	THBD	DOID:0080301	Atypical hemolytic-uremic syndrome	MedlinePlus	CURATED	5
ENSP00000366307	THBD	DOID:12554	hemolytic-uremic syndrome	UniProtKB-KW	CURATED	4
ENSP00000366307	THBD	DOID:2452	Thrombophilia	UniProtKB-KW	CURATED	4
ENSP00000366314	TRPM3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000366314	TRPM3	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000366404	TRIM27	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000366410	NMNAT1	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000366410	NMNAT1	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000366416	EDNRB	DOID:10487	Hirschsprung's disease	MedlinePlus	CURATED	5
ENSP00000366416	EDNRB	DOID:10487	Hirschsprung's disease	UniProtKB-KW	CURATED	4
ENSP00000366416	EDNRB	DOID:9258	Waardenburg syndrome	MedlinePlus	CURATED	5
ENSP00000366525	FTL	DOID:0110737	Neurodegeneration with brain iron accumulation 3	MedlinePlus	CURATED	5
ENSP00000366525	FTL	DOID:0111256	hyperferritinemia-cataract syndrome	MedlinePlus	CURATED	5
ENSP00000366525	FTL	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000366525	FTL	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000366534	FOXH1	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000366534	FOXH1	DOID:4621	Holoprosencephaly	MedlinePlus	CURATED	5
ENSP00000366563	PIK3CD	DOID:0111936	Immunodeficiency 14	MedlinePlus	CURATED	5
ENSP00000366563	PIK3CD	DOID:6688	Autoimmune lymphoproliferative syndrome	MedlinePlus	CURATED	5
ENSP00000366863	TBC1D4	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000366898	HIF3A	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000366939	MGME1	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000367001	DPP6	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000367028	TCOF1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000367028	TCOF1	DOID:2908	Treacher Collins syndrome	MedlinePlus	CURATED	5
ENSP00000367064	CUBN	DOID:13382	Megaloblastic anemia	MedlinePlus	CURATED	5
ENSP00000367104	BFSP1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000367202	RECK	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000367203	KDM6A	DOID:0060473	Kabuki syndrome	MedlinePlus	CURATED	5
ENSP00000367203	KDM6A	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000367214	GRXCR2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000367214	GRXCR2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000367323	KCNAB2	DOID:0060410	Chromosome 1p36 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000367343	GBA2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000367343	GBA2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000367346	NDUFAF5	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000367346	NDUFAF5	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000367346	NDUFAF5	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000367398	NPHP4	DOID:0050576	Senior-Loken syndrome	MedlinePlus	CURATED	5
ENSP00000367398	NPHP4	DOID:0050576	Senior-Loken syndrome	UniProtKB-KW	CURATED	4
ENSP00000367398	NPHP4	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000367398	NPHP4	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000367398	NPHP4	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000367440	TDP2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000367440	TDP2	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000367446	EXT1	DOID:206	Hereditary multiple exostoses	MedlinePlus	CURATED	5
ENSP00000367446	EXT1	DOID:206	Hereditary multiple exostoses	UniProtKB-KW	CURATED	4
ENSP00000367446	EXT1	DOID:4998	Trichorhinophalangeal syndrome type II	MedlinePlus	CURATED	5
ENSP00000367476	CEP104	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000367527	DCLRE1C	DOID:0060010	Omenn syndrome	MedlinePlus	CURATED	5
ENSP00000367545	TP73	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000367545	TP73	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000367545	TP73	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000367545	TP73	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000367590	REEP2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000367590	REEP2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000367615	APRT	DOID:0060350	Adenine phosphoribosyltransferase deficiency	MedlinePlus	CURATED	5
ENSP00000367655	PKHD1L1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000367691	LPAR6	DOID:0110703	Hypotrichosis 6	MedlinePlus	CURATED	5
ENSP00000367691	LPAR6	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000367705	BCOR	DOID:0111809	Syndromic microphthalmia 2	MedlinePlus	CURATED	5
ENSP00000367705	BCOR	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000367705	BCOR	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000367705	BCOR	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000367715	DCDC2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000367715	DCDC2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000367715	DCDC2	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000367797	SKI	DOID:0060410	Chromosome 1p36 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000367797	SKI	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000367797	SKI	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000367815	DNAAF1	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000367815	DNAAF1	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000367848	GABRD	DOID:0060170	Generalized epilepsy with febrile seizures plus	MedlinePlus	CURATED	5
ENSP00000367848	GABRD	DOID:0060410	Chromosome 1p36 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000367848	GABRD	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000367848	GABRD	DOID:4890	Juvenile myoclonic epilepsy	MedlinePlus	CURATED	5
ENSP00000367851	CYBB	DOID:3265	Chronic granulomatous disease	MedlinePlus	CURATED	5
ENSP00000367851	CYBB	DOID:3265	Chronic granulomatous disease	UniProtKB-KW	CURATED	4
ENSP00000367872	GNB1	DOID:0060410	Chromosome 1p36 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000367879	XK	DOID:0112107	McLeod syndrome	MedlinePlus	CURATED	5
ENSP00000367880	PIGO	DOID:0070431	Hyperphosphatasia with impaired intellectual development syndrome	MedlinePlus	CURATED	5
ENSP00000367888	LRP4	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000367891	LGALS7	DOID:0050430	Multiple endocrine neoplasia type 2A	AmyCo	CURATED	2
ENSP00000367891	LGALS7	DOID:0050639	Primary cutaneous amyloidosis	AmyCo	CURATED	4
ENSP00000367891	LGALS7	DOID:2513	Basal cell carcinoma	AmyCo	CURATED	2
ENSP00000367891	LGALS7	DOID:6498	Seborrheic keratosis	AmyCo	CURATED	2
ENSP00000367910	FANCG	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000367910	FANCG	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000367939	UQCRQ	DOID:0111139	Mitochondrial complex III deficiency	MedlinePlus	CURATED	5
ENSP00000367939	UQCRQ	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000367942	GDF9	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000368007	TMEM240	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000368007	TMEM240	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000368014	PAX4	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000368014	PAX4	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000368022	OPTN	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000368022	OPTN	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000368022	OPTN	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000368022	OPTN	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000368079	CYP4V2	DOID:0050664	Bietti crystalline corneoretinal dystrophy	MedlinePlus	CURATED	5
ENSP00000368100	RAD50	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000368100	RAD50	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000368119	GALT	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000368119	GALT	DOID:9870	Galactosemia	MedlinePlus	CURATED	5
ENSP00000368164	MCM8	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000368165	SDHAF1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000368166	DVL1	DOID:0060254	Robinow syndrome	MedlinePlus	CURATED	5
ENSP00000368190	NPHS1	DOID:2590	Familial nephrotic syndrome	MedlinePlus	CURATED	5
ENSP00000368207	FTHL17	DOID:14448	46,XY sex reversal	MedlinePlus	CURATED	5
ENSP00000368244	CHGB	DOID:3973	Thyroid gland medullary carcinoma	AmyCo	CURATED	4
ENSP00000368253	NR0B1	DOID:0080156	X-linked adrenal hypoplasia congenita	MedlinePlus	CURATED	5
ENSP00000368253	NR0B1	DOID:14448	46,XY sex reversal	MedlinePlus	CURATED	5
ENSP00000368332	ARX	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000368332	ARX	DOID:0080468	Developmental and epileptic encephalopathy 1	MedlinePlus	CURATED	5
ENSP00000368332	ARX	DOID:0112238	X-linked lissencephaly 2	MedlinePlus	CURATED	5
ENSP00000368332	ARX	DOID:14744	Partington syndrome	MedlinePlus	CURATED	5
ENSP00000368332	ARX	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000368370	WT1	DOID:0050438	Frasier syndrome	MedlinePlus	CURATED	5
ENSP00000368370	WT1	DOID:0111760	46,XX sex reversal	MedlinePlus	CURATED	5
ENSP00000368370	WT1	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000368370	WT1	DOID:14515	WAGR syndrome	MedlinePlus	CURATED	5
ENSP00000368370	WT1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000368370	WT1	DOID:2154	Nephroblastoma	MedlinePlus	CURATED	5
ENSP00000368370	WT1	DOID:2590	Familial nephrotic syndrome	MedlinePlus	CURATED	5
ENSP00000368370	WT1	DOID:3764	Denys-Drash syndrome	MedlinePlus	CURATED	5
ENSP00000368452	NUDT2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000368458	PCNA	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000368496	B3GALT6	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000368496	B3GALT6	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000368612	VWA8	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000368666	PTCHD1	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000368678	AGRN	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	AmyCo	CURATED	4
ENSP00000368678	AGRN	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000368678	AGRN	DOID:14330	Parkinson's disease	AmyCo	CURATED	4
ENSP00000368678	AGRN	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000368678	AGRN	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000368682	PHEX	DOID:0050336	Hypophosphatemia	MedlinePlus	CURATED	5
ENSP00000368688	LYRM7	DOID:0111139	Mitochondrial complex III deficiency	MedlinePlus	CURATED	5
ENSP00000368727	XDH	DOID:0060236	Xanthinuria	MedlinePlus	CURATED	5
ENSP00000368798	MBTPS2	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000368798	MBTPS2	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000368798	MBTPS2	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000368808	SMPX	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000368808	SMPX	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000368880	FOXO1	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000368880	FOXO1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000368884	RPS6KA3	DOID:3783	Coffin-Lowry syndrome	MedlinePlus	CURATED	5
ENSP00000368965	HGSNAT	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000368965	HGSNAT	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000368965	HGSNAT	DOID:12801	Mucopolysaccharidosis III	MedlinePlus	CURATED	5
ENSP00000368966	TRPC3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000368966	TRPC3	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000368970	UFM1	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000368982	KATNB1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000368984	EXOSC9	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000369014	NDNF	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000369014	NDNF	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000369055	B4GALT1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000369129	DSP	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000369129	DSP	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000369129	DSP	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000369129	DSP	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000369129	DSP	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000369134	PDHA1	DOID:3649	Pyruvate decarboxylase deficiency	MedlinePlus	CURATED	5
ENSP00000369134	PDHA1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000369134	PDHA1	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000369145	APTX	DOID:0050755	Spinocerebellar ataxia with axonal neuropathy 2	MedlinePlus	CURATED	5
ENSP00000369145	APTX	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000369154	SMAD9	DOID:14557	Primary pulmonary hypertension	MedlinePlus	CURATED	5
ENSP00000369274	PHKA2	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000369293	IL2RA	DOID:12361	Graves' disease	MedlinePlus	CURATED	5
ENSP00000369293	IL2RA	DOID:2377	Multiple sclerosis	MedlinePlus	CURATED	5
ENSP00000369293	IL2RA	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000369293	IL2RA	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000369293	IL2RA	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000369293	IL2RA	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000369317	KRT6A	DOID:0050449	Pachyonychia congenita	MedlinePlus	CURATED	5
ENSP00000369317	KRT6A	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000369320	RS1	DOID:0060763	X-linked juvenile retinoschisis 1	MedlinePlus	CURATED	5
ENSP00000369325	CDKL5	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000369325	CDKL5	DOID:0080467	Developmental and epileptic encephalopathy 2	MedlinePlus	CURATED	5
ENSP00000369325	CDKL5	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000369346	ARSK	DOID:12798	Mucopolysaccharidosis	UniProtKB-KW	CURATED	4
ENSP00000369349	KRT81	DOID:0050472	Monilethrix	MedlinePlus	CURATED	5
ENSP00000369375	TEK	DOID:0050792	Multiple cutaneous and mucosal venous malformations	MedlinePlus	CURATED	5
ENSP00000369375	TEK	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000369383	MPV17	DOID:0080125	Mitochondrial DNA depletion syndrome 6	MedlinePlus	CURATED	5
ENSP00000369383	MPV17	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000369383	MPV17	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000369383	MPV17	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000369383	MPV17	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000369399	SLC4A11	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000369399	SLC4A11	DOID:11555	Fuchs' endothelial dystrophy	MedlinePlus	CURATED	5
ENSP00000369400	NHS	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000369400	NHS	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000369442	KL	DOID:0111063	Hyperphosphatemic familial tumoral calcinosis	MedlinePlus	CURATED	5
ENSP00000369442	KL	DOID:585	Nephrolithiasis	MedlinePlus	CURATED	5
ENSP00000369456	ITPA	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000369456	ITPA	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000369497	BRCA2	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000369497	BRCA2	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000369497	BRCA2	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000369497	BRCA2	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000369497	BRCA2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000369497	BRCA2	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000369497	BRCA2	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000369647	AVP	DOID:0081055	Central diabetes insipidus	MedlinePlus	CURATED	5
ENSP00000369647	AVP	DOID:9409	Diabetes insipidus	UniProtKB-KW	CURATED	4
ENSP00000369677	EMILIN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000369677	EMILIN1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000369695	MLLT3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000369810	VPS16	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000369820	PIGA	DOID:0060248	Simpson-Golabi-Behmel syndrome type 1	MedlinePlus	CURATED	5
ENSP00000369820	PIGA	DOID:0060284	Paroxysmal nocturnal hemoglobinuria	MedlinePlus	CURATED	5
ENSP00000369820	PIGA	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000369820	PIGA	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000369863	TLCD3B	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000369889	COL2A1	DOID:0080043	Achondrogenesis	MedlinePlus	CURATED	5
ENSP00000369889	COL2A1	DOID:0080045	Kniest dysplasia	MedlinePlus	CURATED	5
ENSP00000369889	COL2A1	DOID:0080046	Stickler syndrome	MedlinePlus	CURATED	5
ENSP00000369889	COL2A1	DOID:0111508	Torrance type platyspondylic dysplasia	MedlinePlus	CURATED	5
ENSP00000369889	COL2A1	DOID:0112195	Spondyloperipheral dysplasia	MedlinePlus	CURATED	5
ENSP00000369889	COL2A1	DOID:14415	Legg-Calve-Perthes disease	MedlinePlus	CURATED	5
ENSP00000369889	COL2A1	DOID:14789	Spondyloepiphyseal dysplasia congenita	MedlinePlus	CURATED	5
ENSP00000369889	COL2A1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000369897	CARS1	DOID:0111866	Trichothiodystrophy	MedlinePlus	CURATED	5
ENSP00000369897	CARS1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000370023	HADHA	DOID:0111277	Mitochondrial trifunctional protein deficiency	MedlinePlus	CURATED	5
ENSP00000370034	TLR7	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000370083	SMN1	DOID:12377	Spinal muscular atrophy	MedlinePlus	CURATED	5
ENSP00000370083	SMN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000370083	SMN1	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000370088	AMELX	DOID:2187	Amelogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000370088	AMELX	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000370119	SMN2	DOID:12377	Spinal muscular atrophy	MedlinePlus	CURATED	5
ENSP00000370119	SMN2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000370139	HCCS	DOID:0111808	Linear skin defects with multiple congenital anomalies 1	MedlinePlus	CURATED	5
ENSP00000370139	HCCS	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000370139	HCCS	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000370139	HCCS	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000370196	SBF1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000370196	SBF1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000370196	SBF1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000370196	SBF1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000370222	POMP	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000370253	NKX3-1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000370270	ESRRB	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000370270	ESRRB	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000370337	CEP152	DOID:0070296	Primary autosomal recessive microcephaly	MedlinePlus	CURATED	5
ENSP00000370337	CEP152	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000370343	IRF4	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000370343	IRF4	DOID:9538	Multiple myeloma	MedlinePlus	CURATED	5
ENSP00000370376	DUT	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000370377	PITRM1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000370394	RUFY3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000370421	PDX1	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000370421	PDX1	DOID:0060639	Permanent neonatal diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000370421	PDX1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000370503	CCM2	DOID:0060669	Cerebral cavernous malformation	MedlinePlus	CURATED	5
ENSP00000370521	AIPL1	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000370521	AIPL1	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000370521	AIPL1	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000370542	SDC1	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	AmyCo	CURATED	4
ENSP00000370542	SDC1	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000370571	TH	DOID:0060963	dystonia, DOPA-responsive	MedlinePlus	CURATED	5
ENSP00000370571	TH	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000370571	TH	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000370589	NOP56	DOID:0050983	Spinocerebellar ataxia type 36	MedlinePlus	CURATED	5
ENSP00000370589	NOP56	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000370589	NOP56	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000370593	PTPRD	DOID:0050425	Restless legs syndrome	MedlinePlus	CURATED	5
ENSP00000370607	TECRL	DOID:0060674	Catecholaminergic polymorphic ventricular tachycardia	MedlinePlus	CURATED	5
ENSP00000370635	SLC39A14	DOID:0080535	Hypermanganesemia with dystonia	MedlinePlus	CURATED	5
ENSP00000370635	SLC39A14	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000370635	SLC39A14	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000370635	SLC39A14	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000370736	TMEM165	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000370737	GLDC	DOID:9268	Glycine encephalopathy	MedlinePlus	CURATED	5
ENSP00000370750	RDH11	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000370826	HR	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000370839	SGCB	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000370839	SGCB	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000370950	NPSR1	DOID:2841	Asthma	UniProtKB-KW	CURATED	4
ENSP00000370975	TNNT3	DOID:0111599	Distal arthrogryposis type 2B	MedlinePlus	CURATED	5
ENSP00000370990	SHOX	DOID:0060847	Leri-Weill dyschondrosteosis	MedlinePlus	CURATED	5
ENSP00000370990	SHOX	DOID:3491	Turner syndrome	MedlinePlus	CURATED	5
ENSP00000371003	ZMYND11	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000371067	JAK2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000371067	JAK2	DOID:2224	Essential thrombocythemia	MedlinePlus	CURATED	5
ENSP00000371067	JAK2	DOID:4971	Myelofibrosis	MedlinePlus	CURATED	5
ENSP00000371067	JAK2	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000371067	JAK2	DOID:8997	Polycythemia vera	MedlinePlus	CURATED	5
ENSP00000371152	ASAH1	DOID:0050464	Farber lipogranulomatosis	MedlinePlus	CURATED	5
ENSP00000371152	ASAH1	DOID:0111527	Spinal muscular atrophy with progressive myoclonic epilepsy	MedlinePlus	CURATED	5
ENSP00000371152	ASAH1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000371152	ASAH1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000371194	LSP1	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000371267	YWHAQ	DOID:14330	Parkinson's disease	AmyCo	CURATED	4
ENSP00000371294	CTNS	DOID:1064	Cystinosis	MedlinePlus	CURATED	5
ENSP00000371308	CENPJ	DOID:0070296	Primary autosomal recessive microcephaly	MedlinePlus	CURATED	5
ENSP00000371308	CENPJ	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000371321	RFC1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000371336	TNNI2	DOID:0111599	Distal arthrogryposis type 2B	MedlinePlus	CURATED	5
ENSP00000371398	GLIS3	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000371398	GLIS3	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000371420	GPNMB	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000371451	DNAJC21	DOID:0060479	Shwachman-Diamond syndrome	MedlinePlus	CURATED	5
ENSP00000371471	RSAD2	DOID:1936	Atherosclerosis	UniProtKB-KW	CURATED	4
ENSP00000371483	SLC34A2	DOID:12117	Pulmonary alveolar microlithiasis	MedlinePlus	CURATED	5
ENSP00000371514	KCNV2	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000371514	KCNV2	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000371517	AMACR	DOID:0060602	alpha-methylacyl-CoA racemase deficiency	MedlinePlus	CURATED	5
ENSP00000371517	AMACR	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000371535	SEPSECS	DOID:0060264	Pontocerebellar hypoplasia	MedlinePlus	CURATED	5
ENSP00000371535	SEPSECS	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000371535	SEPSECS	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000371638	SMARCA2	DOID:0081441	Nicolaides-Baraitser syndrome	MedlinePlus	CURATED	5
ENSP00000371638	SMARCA2	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000371711	DMRT1	DOID:14448	46,XY sex reversal	MedlinePlus	CURATED	5
ENSP00000371729	SACS	DOID:0050946	Charlevoix-Saguenay spastic ataxia	MedlinePlus	CURATED	5
ENSP00000371729	SACS	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000371846	DEAF1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000371923	RP1L1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000371985	KCNA1	DOID:0090053	Episodic kinesigenic dyskinesia 1	MedlinePlus	CURATED	5
ENSP00000371985	KCNA1	DOID:963	Episodic ataxia	MedlinePlus	CURATED	5
ENSP00000372005	DNAJC19	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000372005	DNAJC19	DOID:0110000	3-methylglutaconic aciduria type 5	MedlinePlus	CURATED	5
ENSP00000372023	CHEK2	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000372023	CHEK2	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000372023	CHEK2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000372023	CHEK2	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000372023	CHEK2	DOID:3012	Li-Fraumeni syndrome	MedlinePlus	CURATED	5
ENSP00000372023	CHEK2	DOID:3012	Li-Fraumeni syndrome	UniProtKB-KW	CURATED	4
ENSP00000372059	IFITM5	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000372059	IFITM5	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000372169	CACNA2D4	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000372170	MSX1	DOID:0050460	Wolf-Hirschhorn syndrome	MedlinePlus	CURATED	5
ENSP00000372193	CLCN7	DOID:13533	Osteopetrosis	MedlinePlus	CURATED	5
ENSP00000372193	CLCN7	DOID:13533	Osteopetrosis	UniProtKB-KW	CURATED	4
ENSP00000372295	GJB2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000372295	GJB2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000372295	GJB2	DOID:0050658	Bart-Pumphrey syndrome	MedlinePlus	CURATED	5
ENSP00000372295	GJB2	DOID:0111339	Vohwinkel syndrome	MedlinePlus	CURATED	5
ENSP00000372295	GJB2	DOID:0111505	Palmoplantar keratoderma-deafness syndrome	MedlinePlus	CURATED	5
ENSP00000372295	GJB2	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000372351	NSD2	DOID:0050460	Wolf-Hirschhorn syndrome	MedlinePlus	CURATED	5
ENSP00000372351	NSD2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000372499	TBL1Y	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000372547	SRY	DOID:0111760	46,XX sex reversal	MedlinePlus	CURATED	5
ENSP00000372547	SRY	DOID:14448	46,XY sex reversal	MedlinePlus	CURATED	5
ENSP00000373169	DRD3	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000373169	DRD3	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000373206	EOGT	DOID:0060227	Adams-Oliver syndrome	MedlinePlus	CURATED	5
ENSP00000373298	COLQ	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000373298	COLQ	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000373328	CIDEC	DOID:0050440	Familial partial lipodystrophy	MedlinePlus	CURATED	5
ENSP00000373450	SPAG1	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000373450	SPAG1	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000373565	FAM83H	DOID:2187	Amelogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000373565	FAM83H	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000373570	TYRP1	DOID:0050632	Oculocutaneous albinism	MedlinePlus	CURATED	5
ENSP00000373570	TYRP1	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000373574	ACVRL1	DOID:1270	Hereditary hemorrhagic telangiectasia	MedlinePlus	CURATED	5
ENSP00000373574	ACVRL1	DOID:14557	Primary pulmonary hypertension	MedlinePlus	CURATED	5
ENSP00000373648	KCNQ3	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000373648	KCNQ3	DOID:14264	Benign neonatal seizures	MedlinePlus	CURATED	5
ENSP00000373648	KCNQ3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000373691	DUOX2	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000373691	DUOX2	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000373700	ALK	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000373700	ALK	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000373700	ALK	DOID:769	Neuroblastoma	MedlinePlus	CURATED	5
ENSP00000373706	DIAPH1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000373706	DIAPH1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000373706	DIAPH1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000373905	DNM2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000373905	DNM2	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000373905	DNM2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000373905	DNM2	DOID:14717	Centronuclear myopathy	MedlinePlus	CURATED	5
ENSP00000373905	DNM2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000373918	GARS1	DOID:0111203	Autosomal dominant distal hereditary motor neuronopathy 5	MedlinePlus	CURATED	5
ENSP00000373918	GARS1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000373918	GARS1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000373918	GARS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000373918	GARS1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000373952	FANCA	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000373952	FANCA	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000374014	TM6SF2	DOID:0080208	Metabolic dysfunction-associated steatotic liver disease	MedlinePlus	CURATED	5
ENSP00000374069	PTPRN2	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000374183	CAMSAP1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000374205	TBR1	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000374309	LAMA1	AmyCo:8	Immunoglobulin Light-chain Amyloidosis	AmyCo	CURATED	4
ENSP00000374309	LAMA1	DOID:0050639	Primary cutaneous amyloidosis	AmyCo	CURATED	4
ENSP00000374354	EXOSC8	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000374443	LYST	DOID:2935	Chediak-Higashi syndrome	MedlinePlus	CURATED	5
ENSP00000374455	SQSTM1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000374455	SQSTM1	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000374455	SQSTM1	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000374455	SQSTM1	DOID:5408	Paget's disease of bone	MedlinePlus	CURATED	5
ENSP00000374507	CCDC88C	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000374507	CCDC88C	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000374552	RNF216	DOID:0111587	Gordon Holmes syndrome	MedlinePlus	CURATED	5
ENSP00000374552	RNF216	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000375639	TFPT	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000375778	LAMB3	DOID:2187	Amelogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000375778	LAMB3	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000375778	LAMB3	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000375778	LAMB3	DOID:3209	Junctional epidermolysis bullosa	MedlinePlus	CURATED	5
ENSP00000375809	ERCC2	DOID:0050427	Xeroderma pigmentosum	MedlinePlus	CURATED	5
ENSP00000375809	ERCC2	DOID:0111866	Trichothiodystrophy	MedlinePlus	CURATED	5
ENSP00000375809	ERCC2	DOID:2962	Cockayne syndrome	UniProtKB-KW	CURATED	4
ENSP00000375809	ERCC2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000375844	CAPN10	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000375873	ATG16L1	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000375892	AKT2	DOID:0050440	Familial partial lipodystrophy	MedlinePlus	CURATED	5
ENSP00000375892	AKT2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000375892	AKT2	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000375921	PAX3	DOID:0111336	craniofacial-deafness-hand syndrome	MedlinePlus	CURATED	5
ENSP00000375921	PAX3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000375921	PAX3	DOID:9258	Waardenburg syndrome	MedlinePlus	CURATED	5
ENSP00000375978	XRCC5	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000376048	MAG	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000376048	MAG	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000376097	URI1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000376103	C19orf12	DOID:0110738	Neurodegeneration with brain iron accumulation 4	MedlinePlus	CURATED	5
ENSP00000376103	C19orf12	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000376103	C19orf12	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000376139	WDR45B	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000376188	CRLF1	DOID:0060294	cold-induced sweating syndrome	MedlinePlus	CURATED	5
ENSP00000376204	ASH1L	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000376249	CCDC50	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000376249	CCDC50	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000376276	SRSF2	DOID:349	Systemic mastocytosis	MedlinePlus	CURATED	5
ENSP00000376287	CRYGS	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000376303	CPT1C	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000376303	CPT1C	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000376306	CIT	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000376367	WASF1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000376410	INF2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000376410	INF2	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000376410	INF2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000376410	INF2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000376432	KCNJ1	DOID:445	Bartter disease	MedlinePlus	CURATED	5
ENSP00000376432	KCNJ1	DOID:445	Bartter disease	UniProtKB-KW	CURATED	4
ENSP00000376436	ETS1	DOID:0111723	Jacobsen Syndrome	MedlinePlus	CURATED	5
ENSP00000376436	ETS1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000376457	ECT2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000376458	CDON	DOID:4621	Holoprosencephaly	UniProtKB-KW	CURATED	4
ENSP00000376465	GALNT3	DOID:0111063	Hyperphosphatemic familial tumoral calcinosis	MedlinePlus	CURATED	5
ENSP00000376472	STT3A	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000376475	PRKAR1A	DOID:0050471	Carney complex	MedlinePlus	CURATED	5
ENSP00000376475	PRKAR1A	DOID:12252	DOID:12252	UniProtKB-KW	CURATED	4
ENSP00000376506	PDCD10	DOID:0060669	Cerebral cavernous malformation	MedlinePlus	CURATED	5
ENSP00000376523	SCN3B	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000376523	SCN3B	DOID:0050451	Brugada syndrome	UniProtKB-KW	CURATED	4
ENSP00000376523	SCN3B	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000376523	SCN3B	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000376543	TECTA	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000376543	TECTA	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000376686	LCA5	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000376686	LCA5	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000376753	GIPC1	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000376776	DBH	DOID:0090145	Dopamine beta-hydroxylase deficiency	MedlinePlus	CURATED	5
ENSP00000376786	POU2AF1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000376827	MKS1	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000376827	MKS1	DOID:0050778	Meckel syndrome	MedlinePlus	CURATED	5
ENSP00000376827	MKS1	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000376827	MKS1	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000376827	MKS1	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000376840	BPGM	DOID:10780	Primary polycythemia	UniProtKB-KW	CURATED	4
ENSP00000376840	BPGM	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000376855	DPP10	DOID:2841	Asthma	UniProtKB-KW	CURATED	4
ENSP00000376865	PDGFD	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000376902	BANP	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000377015	PICALM	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000377036	PTPA	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000377036	PTPA	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000377115	LIPT1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000377176	SPATA7	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000377176	SPATA7	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000377176	SPATA7	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000377176	SPATA7	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000377192	G6PD	DOID:2862	Glucosephosphate dehydrogenase deficiency	MedlinePlus	CURATED	5
ENSP00000377192	G6PD	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000377195	DBN1	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000377195	DBN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000377195	DBN1	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000377197	HYDIN	DOID:0060411	Chromosome 1q21.1 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000377197	HYDIN	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000377197	HYDIN	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000377245	KEAP1	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000377265	TFAP2B	DOID:0060563	Char syndrome	MedlinePlus	CURATED	5
ENSP00000377284	FOLR1	DOID:0050719	Cerebral folate receptor alpha deficiency	MedlinePlus	CURATED	5
ENSP00000377284	FOLR1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000377296	SNCB	DOID:12217	Lewy body dementia	MedlinePlus	CURATED	5
ENSP00000377298	NUMA1	DOID:0060318	Acute promyelocytic leukemia	MedlinePlus	CURATED	5
ENSP00000377401	SLC35B2	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000377446	SUCLG1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000377470	CNP	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000377470	CNP	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000377508	JUP	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000377508	JUP	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000377508	JUP	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000377536	PTTG1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000377668	SUOX	DOID:0111270	Isolated sulfite oxidase deficiency	MedlinePlus	CURATED	5
ENSP00000377668	SUOX	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000377668	SUOX	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000377724	ORMDL3	DOID:2841	Asthma	UniProtKB-KW	CURATED	4
ENSP00000377747	CHD2	DOID:0050561	Lennox-Gastaut syndrome	MedlinePlus	CURATED	5
ENSP00000377747	CHD2	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000377747	CHD2	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000377747	CHD2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000377769	ARL13B	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000377783	PROS1	DOID:2451	Protein S deficiency	MedlinePlus	CURATED	5
ENSP00000377783	PROS1	DOID:2452	Thrombophilia	UniProtKB-KW	CURATED	4
ENSP00000377793	PRC1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000377836	GPC3	DOID:0060248	Simpson-Golabi-Behmel syndrome type 1	MedlinePlus	CURATED	5
ENSP00000377862	FAT4	DOID:0060366	Hennekam syndrome	MedlinePlus	CURATED	5
ENSP00000377934	KIF7	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000377934	KIF7	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000377934	KIF7	DOID:9250	Acrocallosal syndrome	MedlinePlus	CURATED	5
ENSP00000377934	KIF7	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000377936	PPP2R2B	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000377936	PPP2R2B	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000378015	KRIT1	DOID:0060669	Cerebral cavernous malformation	MedlinePlus	CURATED	5
ENSP00000378053	DNASE1L3	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000378058	EFEMP1	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000378072	PNPLA1	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000378131	CFI	DOID:0050419	Complement factor I deficiency	MedlinePlus	CURATED	5
ENSP00000378131	CFI	DOID:0080301	Atypical hemolytic-uremic syndrome	MedlinePlus	CURATED	5
ENSP00000378131	CFI	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000378131	CFI	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000378131	CFI	DOID:12554	hemolytic-uremic syndrome	UniProtKB-KW	CURATED	4
ENSP00000378181	BRD7	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000378191	AIMP1	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000378191	AIMP1	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000378260	ALG13	DOID:0050561	Lennox-Gastaut syndrome	MedlinePlus	CURATED	5
ENSP00000378260	ALG13	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000378260	ALG13	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000378284	MATR3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000378284	MATR3	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000378284	MATR3	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000378310	SLC39A8	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000378323	PPP3CA	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000378323	PPP3CA	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000378340	COL4A6	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000378340	COL4A6	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000378356	KIF20A	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000378360	TKFC	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000378394	PSAP	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000378394	PSAP	DOID:10581	Metachromatic leukodystrophy	MedlinePlus	CURATED	5
ENSP00000378394	PSAP	DOID:10581	Metachromatic leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000378394	PSAP	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000378394	PSAP	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000378394	PSAP	DOID:1926	Gaucher's disease	UniProtKB-KW	CURATED	4
ENSP00000378394	PSAP	DOID:2368	Gangliosidosis	UniProtKB-KW	CURATED	4
ENSP00000378405	BCKDK	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000378426	VKORC1	DOID:0080665	Warfarin resistance	MedlinePlus	CURATED	5
ENSP00000378426	VKORC1	DOID:0080666	Warfarin sensitivity	MedlinePlus	CURATED	5
ENSP00000378517	SPP1	DOID:585	Nephrolithiasis	MedlinePlus	CURATED	5
ENSP00000378529	FZR1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000378577	CLDN3	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000378578	AFF1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000378605	DNAJC30	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000378605	DNAJC30	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000378635	DRP2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000378650	TBX6	DOID:0050568	Spondylocostal dysostosis	MedlinePlus	CURATED	5
ENSP00000378721	SEC31A	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000378786	HLA-DRA	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000378812	CHCHD2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000378812	CHCHD2	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000379011	CPT1B	DOID:8986	Narcolepsy	MedlinePlus	CURATED	5
ENSP00000379032	EXT2	DOID:0111687	Potocki-Shaffer syndrome	MedlinePlus	CURATED	5
ENSP00000379032	EXT2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000379032	EXT2	DOID:206	Hereditary multiple exostoses	MedlinePlus	CURATED	5
ENSP00000379032	EXT2	DOID:206	Hereditary multiple exostoses	UniProtKB-KW	CURATED	4
ENSP00000379038	TYMP	DOID:0080123	Mitochondrial DNA depletion syndrome 4b	MedlinePlus	CURATED	5
ENSP00000379038	TYMP	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000379038	TYMP	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000379065	TRPS1	DOID:14743	Trichorhinophalangeal syndrome type I	MedlinePlus	CURATED	5
ENSP00000379065	TRPS1	DOID:4998	Trichorhinophalangeal syndrome type II	MedlinePlus	CURATED	5
ENSP00000379144	TNRC6A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000379204	BMP7	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000379204	BMP7	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000379258	GLI3	DOID:14761	Greig cephalopolysyndactyly syndrome	MedlinePlus	CURATED	5
ENSP00000379258	GLI3	DOID:9248	Pallister-Hall syndrome	MedlinePlus	CURATED	5
ENSP00000379258	GLI3	DOID:9250	Acrocallosal syndrome	MedlinePlus	CURATED	5
ENSP00000379258	GLI3	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000379282	ABHD16A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000379282	ABHD16A	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000379287	YWHAZ	DOID:11949	Creutzfeldt-Jakob disease	AmyCo	CURATED	4
ENSP00000379287	YWHAZ	DOID:14330	Parkinson's disease	AmyCo	CURATED	4
ENSP00000379339	RPS29	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000379339	RPS29	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000379383	ENAM	DOID:2187	Amelogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000379383	ENAM	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000379401	ODAM	AmyCo:35	Calcifying Epithelial Odontogenic Tumor	AmyCo	CURATED	4
ENSP00000379430	NDUFAF6	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000379430	NDUFAF6	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000379438	UMOD	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000379496	PDE1C	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000379503	PDP1	DOID:3649	Pyruvate decarboxylase deficiency	MedlinePlus	CURATED	5
ENSP00000379601	RAB27A	DOID:0060831	Griscelli syndrome	MedlinePlus	CURATED	5
ENSP00000379602	VAMP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000379602	VAMP1	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000379616	MYH11	DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome	MedlinePlus	CURATED	5
ENSP00000379616	MYH11	DOID:0080072	Intestinal pseudo-obstruction	MedlinePlus	CURATED	5
ENSP00000379616	MYH11	DOID:0080796	Core binding factor acute myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000379616	MYH11	DOID:14004	Thoracic aortic aneurysm	MedlinePlus	CURATED	5
ENSP00000379616	MYH11	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000379616	MYH11	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000379619	WDR72	DOID:2187	Amelogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000379619	WDR72	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000379643	NDE1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000379658	ETV6	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000379680	NAGA	DOID:0112317	Schindler disease	MedlinePlus	CURATED	5
ENSP00000379680	NAGA	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000379683	CYP19A1	DOID:0090122	Aromatase excess syndrome	MedlinePlus	CURATED	5
ENSP00000379683	CYP19A1	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000379683	CYP19A1	DOID:3765	Pseudohermaphroditism	UniProtKB-KW	CURATED	4
ENSP00000379721	USP8	DOID:12252	DOID:12252	UniProtKB-KW	CURATED	4
ENSP00000379823	COL4A3	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000379823	COL4A3	DOID:10983	Alport syndrome	MedlinePlus	CURATED	5
ENSP00000379823	COL4A3	DOID:10983	Alport syndrome	UniProtKB-KW	CURATED	4
ENSP00000379839	GNE	DOID:0080718	GNE myopathy	MedlinePlus	CURATED	5
ENSP00000379839	GNE	DOID:3659	Sialuria	MedlinePlus	CURATED	5
ENSP00000379841	GPS2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000379845	ABAT	DOID:0060174	GABA aminotransferase deficiency	MedlinePlus	CURATED	5
ENSP00000379845	ABAT	DOID:0060407	Chromosome 18q deletion syndrome	MedlinePlus	CURATED	5
ENSP00000379845	ABAT	DOID:0060407	Chromosome 18q deletion syndrome	MedlinePlus	CURATED	5
ENSP00000379845	ABAT	DOID:1085	Edwards syndrome	MedlinePlus	CURATED	5
ENSP00000379866	COL4A4	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000379866	COL4A4	DOID:10983	Alport syndrome	MedlinePlus	CURATED	5
ENSP00000379866	COL4A4	DOID:10983	Alport syndrome	UniProtKB-KW	CURATED	4
ENSP00000379873	HLA-A	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000379873	HLA-A	DOID:8536	Herpes zoster	MedlinePlus	CURATED	5
ENSP00000379873	HLA-A	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000379895	GATM	DOID:0050712	AGAT deficiency	MedlinePlus	CURATED	5
ENSP00000379901	TMEM106B	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000379901	TMEM106B	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000379901	TMEM106B	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000379915	ATN1	DOID:0060162	dentatorubral-pallidoluysian atrophy	MedlinePlus	CURATED	5
ENSP00000379915	ATN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000379915	ATN1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000380024	ING4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000380037	FITM2	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000380044	CSNK1E	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000380093	SOX10	DOID:10487	Hirschsprung's disease	MedlinePlus	CURATED	5
ENSP00000380093	SOX10	DOID:10487	Hirschsprung's disease	UniProtKB-KW	CURATED	4
ENSP00000380093	SOX10	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000380093	SOX10	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000380093	SOX10	DOID:9258	Waardenburg syndrome	MedlinePlus	CURATED	5
ENSP00000380150	CARD11	DOID:0060010	Omenn syndrome	MedlinePlus	CURATED	5
ENSP00000380150	CARD11	DOID:3310	Atopic dermatitis	MedlinePlus	CURATED	5
ENSP00000380157	MOCS2	DOID:0111165	Molybdenum cofactor deficiency	MedlinePlus	CURATED	5
ENSP00000380256	CCNF	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000380256	CCNF	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000380334	NCF4	DOID:3265	Chronic granulomatous disease	MedlinePlus	CURATED	5
ENSP00000380334	NCF4	DOID:3265	Chronic granulomatous disease	UniProtKB-KW	CURATED	4
ENSP00000380349	CAPN3	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000380349	CAPN3	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000380352	DDHD2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000380352	DDHD2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000380378	PAFAH1B1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000380378	PAFAH1B1	DOID:0060469	Miller-Dieker lissencephaly syndrome	MedlinePlus	CURATED	5
ENSP00000380378	PAFAH1B1	DOID:0111169	Subcortical band heterotopia	MedlinePlus	CURATED	5
ENSP00000380378	PAFAH1B1	DOID:0112237	Lissencephaly 1	MedlinePlus	CURATED	5
ENSP00000380432	INS	AmyCo:16	Localized insulin-derived Amyloidosis	AmyCo	CURATED	4
ENSP00000380432	INS	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000380432	INS	DOID:0060639	Permanent neonatal diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000380432	INS	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000380432	INS	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000380598	BLOC1S5	DOID:3753	Hermansky-Pudlak syndrome	UniProtKB-KW	CURATED	4
ENSP00000380602	CNTN4	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000380661	CEP250	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000380666	SLC7A7	DOID:0060439	Lysinuric protein intolerance	MedlinePlus	CURATED	5
ENSP00000380679	CCDC40	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000380679	CCDC40	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000380763	MORC2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000380763	MORC2	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000380763	MORC2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000380763	MORC2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000380779	TCTN1	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000380781	NFIX	DOID:0060426	Chromosome 19p13.13 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000380793	ALG3	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000380793	ALG3	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000380837	LSS	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000380837	LSS	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000380856	FTCD	DOID:0111679	Glutamate formiminotransferase deficiency	MedlinePlus	CURATED	5
ENSP00000380901	COL8A2	DOID:11555	Fuchs' endothelial dystrophy	MedlinePlus	CURATED	5
ENSP00000380911	CEP83	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000380911	CEP83	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000380942	ARHGEF12	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000380958	MBP	DOID:0060004	Autoimmune disease of central nervous system	UniProtKB-KW	CURATED	4
ENSP00000380998	CHMP1A	DOID:0060264	Pontocerebellar hypoplasia	MedlinePlus	CURATED	5
ENSP00000380998	CHMP1A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000381047	CFAP410	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000381098	GRIP1	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000381098	GRIP1	DOID:0090001	Fraser syndrome	MedlinePlus	CURATED	5
ENSP00000381098	GRIP1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000381101	SERPINB7	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000381185	BCL2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000381213	HPS4	DOID:3753	Hermansky-Pudlak syndrome	MedlinePlus	CURATED	5
ENSP00000381213	HPS4	DOID:3753	Hermansky-Pudlak syndrome	UniProtKB-KW	CURATED	4
ENSP00000381231	CBS	DOID:9263	Homocystinuria	MedlinePlus	CURATED	5
ENSP00000381266	WDR4	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000381270	TBC1D32	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000381270	TBC1D32	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000381270	TBC1D32	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000381293	NSF	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000381382	TCF4	DOID:0060407	Chromosome 18q deletion syndrome	MedlinePlus	CURATED	5
ENSP00000381382	TCF4	DOID:0060488	Pitt-Hopkins syndrome	MedlinePlus	CURATED	5
ENSP00000381382	TCF4	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000381382	TCF4	DOID:11555	Fuchs' endothelial dystrophy	MedlinePlus	CURATED	5
ENSP00000381382	TCF4	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000381448	CST3	DOID:0050637	Finnish type amyloidosis	AmyCo	CURATED	4
ENSP00000381448	CST3	DOID:0070027	CST3-related cerebral amyloid angiopathy	AmyCo	CURATED	4
ENSP00000381448	CST3	DOID:0070027	CST3-related cerebral amyloid angiopathy	MedlinePlus	CURATED	5
ENSP00000381448	CST3	DOID:0070028	APP-related cerebral amyloid angiopathy	AmyCo	CURATED	4
ENSP00000381448	CST3	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	AmyCo	CURATED	4
ENSP00000381448	CST3	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000381448	CST3	DOID:10652	Alzheimer's disease	AmyCo	CURATED	4
ENSP00000381448	CST3	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000381448	CST3	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000381448	CST3	DOID:14250	Down syndrome	AmyCo	CURATED	3
ENSP00000381448	CST3	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000381492	LAT2	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000381553	CFAP53	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000381553	CFAP53	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000381657	DOT1L	DOID:8398	Osteoarthritis	MedlinePlus	CURATED	5
ENSP00000381773	TOP3B	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000381775	TNFSF11	DOID:13533	Osteopetrosis	MedlinePlus	CURATED	5
ENSP00000381775	TNFSF11	DOID:13533	Osteopetrosis	UniProtKB-KW	CURATED	4
ENSP00000381844	ATL3	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000381949	COL13A1	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000382004	CTNND1	DOID:0080344	Blepharocheilodontic syndrome	MedlinePlus	CURATED	5
ENSP00000382071	HLCS	DOID:859	Holocarboxylase synthetase deficiency	MedlinePlus	CURATED	5
ENSP00000382090	CLDN14	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000382090	CLDN14	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000382090	CLDN14	DOID:585	Nephrolithiasis	MedlinePlus	CURATED	5
ENSP00000382177	MYO5A	DOID:0060831	Griscelli syndrome	MedlinePlus	CURATED	5
ENSP00000382226	KCNE1	DOID:2842	Jervell-Lange Nielsen syndrome	MedlinePlus	CURATED	5
ENSP00000382226	KCNE1	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000382323	OTOG	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000382323	OTOG	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000382342	ABCC1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000382423	MAP3K1	DOID:14448	46,XY sex reversal	MedlinePlus	CURATED	5
ENSP00000382423	MAP3K1	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000382423	MAP3K1	DOID:2571	Langerhans-cell histiocytosis	MedlinePlus	CURATED	5
ENSP00000382492	RADIL	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000382670	GRXCR1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000382670	GRXCR1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000382684	MRAP	DOID:0080620	Familial glucocorticoid deficiency	MedlinePlus	CURATED	5
ENSP00000382688	KDM5A	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000382717	WDR19	DOID:0050576	Senior-Loken syndrome	MedlinePlus	CURATED	5
ENSP00000382717	WDR19	DOID:0050576	Senior-Loken syndrome	UniProtKB-KW	CURATED	4
ENSP00000382717	WDR19	DOID:0050577	Cranioectodermal dysplasia	MedlinePlus	CURATED	5
ENSP00000382717	WDR19	DOID:0050592	Asphyxiating thoracic dystrophy	MedlinePlus	CURATED	5
ENSP00000382717	WDR19	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000382717	WDR19	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000382717	WDR19	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000382717	WDR19	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000382731	ADA2	DOID:9810	Polyarteritis nodosa	MedlinePlus	CURATED	5
ENSP00000382895	RPGRIP1	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000382895	RPGRIP1	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000382895	RPGRIP1	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000382895	RPGRIP1	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000382895	RPGRIP1	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000382953	GABRA5	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000382953	GABRA5	DOID:5418	Schizoaffective disorder	MedlinePlus	CURATED	5
ENSP00000383042	KDM1A	DOID:12252	DOID:12252	UniProtKB-KW	CURATED	4
ENSP00000383044	USP25	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000383053	EPHB2	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000383053	EPHB2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000383178	DIAPH3	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000383178	DIAPH3	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000383199	NEDD4L	DOID:0050454	Periventricular nodular heterotopia	MedlinePlus	CURATED	5
ENSP00000383295	NBEA	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000383303	DSCAM	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000383365	TXNRD2	DOID:0080620	Familial glucocorticoid deficiency	MedlinePlus	CURATED	5
ENSP00000383382	GP1BB	DOID:2217	Bernard-Soulier syndrome	MedlinePlus	CURATED	5
ENSP00000383382	GP1BB	DOID:2217	Bernard-Soulier syndrome	UniProtKB-KW	CURATED	4
ENSP00000383516	HMX1	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000383516	HMX1	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000383516	HMX1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000383516	HMX1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000383558	GCGR	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000383894	MATN3	DOID:12721	Multiple epiphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000383923	LIPN	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000384004	POU6F2	DOID:2154	Nephroblastoma	MedlinePlus	CURATED	5
ENSP00000384092	POMC	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000384179	ZFPM2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000384179	ZFPM2	DOID:14448	46,XY sex reversal	MedlinePlus	CURATED	5
ENSP00000384179	ZFPM2	DOID:3827	Congenital diaphragmatic hernia	MedlinePlus	CURATED	5
ENSP00000384264	CNGA1	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000384264	CNGA1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000384290	WDR60	DOID:0050592	Asphyxiating thoracic dystrophy	MedlinePlus	CURATED	5
ENSP00000384367	KCTD1	DOID:0111550	scalp-ear-nipple syndrome	MedlinePlus	CURATED	5
ENSP00000384371	BCL6	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000384400	CHKB	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000384400	CHKB	DOID:8986	Narcolepsy	MedlinePlus	CURATED	5
ENSP00000384484	ADCY3	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000384513	ABCG5	DOID:0090019	Sitosterolemia	MedlinePlus	CURATED	5
ENSP00000384517	ARNTL	DOID:0060167	Seasonal affective disorder	MedlinePlus	CURATED	5
ENSP00000384582	ADGRV1	DOID:0050439	Usher syndrome	MedlinePlus	CURATED	5
ENSP00000384582	ADGRV1	DOID:0050439	Usher syndrome	UniProtKB-KW	CURATED	4
ENSP00000384582	ADGRV1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000384638	CTNNA2	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000384675	SOS1	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000384708	FSHR	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000384716	ZDHHC8	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000384792	WDR62	DOID:0070296	Primary autosomal recessive microcephaly	MedlinePlus	CURATED	5
ENSP00000384792	WDR62	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000384849	CDKN1A	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000384906	SAA1	AmyCo:29	AA Amyloidosis	AmyCo	CURATED	4
ENSP00000384906	SAA1	DOID:0050452	Mevalonic aciduria	AmyCo	CURATED	3
ENSP00000384906	SAA1	DOID:0050589	Inflammatory bowel disease	AmyCo	CURATED	3
ENSP00000384906	SAA1	DOID:0050747	DOID:0050747	AmyCo	CURATED	4
ENSP00000384906	SAA1	DOID:0060060	non-Hodgkin lymphoma	AmyCo	CURATED	4
ENSP00000384906	SAA1	DOID:0060645	Chronic recurrent multifocal osteomyelitis	AmyCo	CURATED	3
ENSP00000384906	SAA1	DOID:0090018	Autosomal dominant familial periodic fever	AmyCo	CURATED	3
ENSP00000384906	SAA1	DOID:0090029	CINCA Syndrome	AmyCo	CURATED	4
ENSP00000384906	SAA1	DOID:0111157	Castleman disease	AmyCo	CURATED	3
ENSP00000384906	SAA1	DOID:13189	Gout	AmyCo	CURATED	4
ENSP00000384906	SAA1	DOID:13241	Behcet's disease	AmyCo	CURATED	4
ENSP00000384906	SAA1	DOID:14179	X-linked agammaglobulinemia	AmyCo	CURATED	3
ENSP00000384906	SAA1	DOID:1485	Cystic fibrosis	AmyCo	CURATED	4
ENSP00000384906	SAA1	DOID:2987	Familial Mediterranean fever	AmyCo	CURATED	4
ENSP00000384906	SAA1	DOID:2987	Familial Mediterranean fever	MedlinePlus	CURATED	5
ENSP00000384906	SAA1	DOID:4371	Schnitzler syndrome	AmyCo	CURATED	3
ENSP00000384906	SAA1	DOID:4450	Renal cell carcinoma	AmyCo	CURATED	4
ENSP00000384906	SAA1	DOID:7147	Ankylosing spondylitis	AmyCo	CURATED	3
ENSP00000384906	SAA1	DOID:7148	Rheumatoid arthritis	AmyCo	CURATED	4
ENSP00000384906	SAA1	DOID:9074	Systemic lupus erythematosus	AmyCo	CURATED	3
ENSP00000384906	SAA1	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000384906	SAA1	DOID:9563	Bronchiectasis	AmyCo	CURATED	4
ENSP00000384906	SAA1	DOID:9810	Polyarteritis nodosa	AmyCo	CURATED	3
ENSP00000384949	PYCR1	DOID:3144	Cutis laxa	MedlinePlus	CURATED	5
ENSP00000384957	F11	DOID:2229	Factor XI deficiency	MedlinePlus	CURATED	5
ENSP00000384973	CHCHD10	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000384973	CHCHD10	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000384973	CHCHD10	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000384999	P4HA2	DOID:11830	Myopia	MedlinePlus	CURATED	5
ENSP00000385000	KIF2A	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000385021	FANCL	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000385021	FANCL	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000385026	CHRNA2	DOID:0060681	Autosomal dominant nocturnal frontal lobe epilepsy	MedlinePlus	CURATED	5
ENSP00000385026	CHRNA2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000385035	C1S	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000385035	C1S	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000385080	FAH	DOID:9275	Tyrosinemia	MedlinePlus	CURATED	5
ENSP00000385096	KCTD17	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000385142	NRXN1	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000385142	NRXN1	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000385158	FAM161A	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000385158	FAM161A	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000385216	NCOA1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000385312	SLC25A19	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000385312	SLC25A19	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000385334	MAD1L1	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000385432	SAR1B	DOID:0060357	Chylomicron retention disease	MedlinePlus	CURATED	5
ENSP00000385478	CRPPA	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000385478	CRPPA	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000385478	CRPPA	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000385478	CRPPA	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000385478	CRPPA	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000385510	GPSM2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000385636	OBSL1	DOID:0060241	3-M syndrome	MedlinePlus	CURATED	5
ENSP00000385675	IL6	DOID:10652	Alzheimer's disease	AmyCo	CURATED	4
ENSP00000385675	IL6	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000385675	IL6	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000385746	SMS	DOID:0060802	Syndromic X-linked intellectual disability Snyder type	MedlinePlus	CURATED	5
ENSP00000385787	POP1	DOID:0080942	Anauxetic dysplasia	MedlinePlus	CURATED	5
ENSP00000385905	DNASE1	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000385958	RPS14	DOID:0090016	Chromosome 5q deletion syndrome	MedlinePlus	CURATED	5
ENSP00000385990	FASTKD2	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000385995	THADA	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000386041	MYH6	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000386041	MYH6	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000386041	MYH6	DOID:13884	Sick sinus syndrome	MedlinePlus	CURATED	5
ENSP00000386041	MYH6	DOID:1882	Atrial heart septal defect	UniProtKB-KW	CURATED	4
ENSP00000386096	MYO18B	DOID:10426	Klippel-Feil syndrome	MedlinePlus	CURATED	5
ENSP00000386104	CPE	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000386104	CPE	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000386125	ARMC5	DOID:0111622	ACTH-independent macronodular adrenal hyperplasia	MedlinePlus	CURATED	5
ENSP00000386125	ARMC5	DOID:12252	DOID:12252	UniProtKB-KW	CURATED	4
ENSP00000386170	TBX20	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000386170	TBX20	DOID:1882	Atrial heart septal defect	UniProtKB-KW	CURATED	4
ENSP00000386200	FOXP2	DOID:0111275	speech-language disorder-1	MedlinePlus	CURATED	5
ENSP00000386227	MCC	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000386248	ELMOD3	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000386248	ELMOD3	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000386264	TMEM237	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000386284	ALAD	DOID:13268	Porphyria	MedlinePlus	CURATED	5
ENSP00000386306	SCN9A	DOID:0060170	Generalized epilepsy with febrile seizures plus	MedlinePlus	CURATED	5
ENSP00000386306	SCN9A	DOID:0070161	Hereditary sensory and autonomic neuropathy type 2	MedlinePlus	CURATED	5
ENSP00000386306	SCN9A	DOID:0081075	Marsili syndrome	MedlinePlus	CURATED	5
ENSP00000386306	SCN9A	DOID:0111537	Paroxysmal extreme pain disorder	MedlinePlus	CURATED	5
ENSP00000386306	SCN9A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000386306	SCN9A	DOID:9240	Erythromelalgia	MedlinePlus	CURATED	5
ENSP00000386331	MYO7A	DOID:0050439	Usher syndrome	MedlinePlus	CURATED	5
ENSP00000386331	MYO7A	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000386331	MYO7A	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000386331	MYO7A	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000386331	MYO7A	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000386380	IL1R1	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000386444	SAG	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000386444	SAG	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000386485	COA8	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000386503	CCDC141	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000386543	PREPL	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000386593	PBRM1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000386593	PBRM1	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000386597	DPAGT1	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000386597	DPAGT1	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000386717	RPL31	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000386741	CHN1	DOID:12557	Duane retraction syndrome	MedlinePlus	CURATED	5
ENSP00000386759	SETD2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000386857	ACTG2	DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome	MedlinePlus	CURATED	5
ENSP00000386857	ACTG2	DOID:0080072	Intestinal pseudo-obstruction	MedlinePlus	CURATED	5
ENSP00000386881	DYSF	DOID:0070198	Miyoshi muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000386881	DYSF	DOID:11724	limb-girdle muscular dystrophy	AmyCo	CURATED	3
ENSP00000386881	DYSF	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000386881	DYSF	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000386884	CXCR4	DOID:0060901	Lymphoplasmacytic lymphoma	MedlinePlus	CURATED	5
ENSP00000386896	ITGA6	DOID:0060733	Junctional epidermolysis bullosa with pyloric atresia	MedlinePlus	CURATED	5
ENSP00000386896	ITGA6	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000386896	ITGA6	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000387050	PLD3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000387050	PLD3	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000387100	TPRN	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000387100	TPRN	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000387122	CLEC16A	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000387122	CLEC16A	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000387123	ALDH7A1	DOID:0080768	pyridoxine-dependent epilepsy	MedlinePlus	CURATED	5
ENSP00000387123	ALDH7A1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000387170	GIGYF2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000387170	GIGYF2	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000387180	PTRH2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000387209	CEP19	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000387219	NFU1	DOID:0070330	Multiple mitochondrial dysfunctions syndrome	MedlinePlus	CURATED	5
ENSP00000387219	NFU1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000387219	NFU1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000387356	ACAN	DOID:84	Osteochondritis dissecans	MedlinePlus	CURATED	5
ENSP00000387356	ACAN	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000387393	KANSL1	DOID:0050880	Koolen de Vries syndrome	MedlinePlus	CURATED	5
ENSP00000387694	SLC12A5	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000387694	SLC12A5	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000387710	TARS1	DOID:0111866	Trichothiodystrophy	MedlinePlus	CURATED	5
ENSP00000387911	PARN	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000387911	PARN	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000387982	WDR73	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000388001	OAS1	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000388723	KBTBD13	DOID:3191	Nemaline myopathy	MedlinePlus	CURATED	5
ENSP00000388723	KBTBD13	DOID:3191	Nemaline myopathy	UniProtKB-KW	CURATED	4
ENSP00000388909	CYBC1	DOID:3265	Chronic granulomatous disease	UniProtKB-KW	CURATED	4
ENSP00000388940	TCF12	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000388940	TCF12	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000388940	TCF12	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000389014	CPLANE1	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000389060	MMADHC	DOID:14749	Methylmalonic acidemia	MedlinePlus	CURATED	5
ENSP00000389060	MMADHC	DOID:9263	Homocystinuria	MedlinePlus	CURATED	5
ENSP00000389140	DCC	DOID:0111153	Congenital mirror movement disorder	MedlinePlus	CURATED	5
ENSP00000389140	DCC	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000389160	NDUFA11	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000389160	NDUFA11	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000389414	TBXAS1	DOID:0112251	Ghosal hematodiaphyseal syndrome	MedlinePlus	CURATED	5
ENSP00000389714	CTNNA3	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000389714	CTNNA3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000389814	ADIPOQ	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000389814	ADIPOQ	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000389870	DLX3	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000389903	LETMD1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000389913	PLEKHM1	DOID:13533	Osteopetrosis	MedlinePlus	CURATED	5
ENSP00000389913	PLEKHM1	DOID:13533	Osteopetrosis	UniProtKB-KW	CURATED	4
ENSP00000389998	TMEM67	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000389998	TMEM67	DOID:0050778	Meckel syndrome	MedlinePlus	CURATED	5
ENSP00000389998	TMEM67	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000389998	TMEM67	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000389998	TMEM67	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000389998	TMEM67	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000389998	TMEM67	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000389998	TMEM67	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000390265	IDH1	DOID:0060221	Maffucci syndrome	MedlinePlus	CURATED	5
ENSP00000390265	IDH1	DOID:4624	Ollier disease	MedlinePlus	CURATED	5
ENSP00000390265	IDH1	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000390265	IDH1	DOID:4971	Myelofibrosis	MedlinePlus	CURATED	5
ENSP00000390436	GLI2	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000390436	GLI2	DOID:4621	Holoprosencephaly	MedlinePlus	CURATED	5
ENSP00000390436	GLI2	DOID:4621	Holoprosencephaly	UniProtKB-KW	CURATED	4
ENSP00000390436	GLI2	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000390613	BTNL2	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000390647	C12orf65	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000390647	C12orf65	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000391088	UNC80	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000391137	ASB10	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000391249	SEPTIN9	DOID:10383	Amyotrophic neuralgia	MedlinePlus	CURATED	5
ENSP00000391490	AGR2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000391601	PEX5	DOID:2580	Rhizomelic chondrodysplasia punctata	UniProtKB-KW	CURATED	4
ENSP00000391601	PEX5	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000391601	PEX5	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000391669	BCAR1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000391692	CCDC103	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000391723	PUM1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000391723	PUM1	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000391723	PUM1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000391739	PISD	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000391747	LACC1	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000391803	MITF	DOID:0090002	Tietz syndrome	MedlinePlus	CURATED	5
ENSP00000391803	MITF	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000391803	MITF	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000391803	MITF	DOID:13533	Osteopetrosis	UniProtKB-KW	CURATED	4
ENSP00000391803	MITF	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000391803	MITF	DOID:9258	Waardenburg syndrome	MedlinePlus	CURATED	5
ENSP00000391826	IGF2	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000391826	IGF2	DOID:14681	Silver-Russell syndrome	MedlinePlus	CURATED	5
ENSP00000391826	IGF2	DOID:2154	Nephroblastoma	MedlinePlus	CURATED	5
ENSP00000391826	IGF2	DOID:5572	Beckwith-Wiedemann syndrome	MedlinePlus	CURATED	5
ENSP00000392025	CYLD	DOID:0050693	Brooke-Spiegler syndrome	MedlinePlus	CURATED	5
ENSP00000392025	CYLD	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000392025	CYLD	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000392025	CYLD	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000392028	CHD7	DOID:0050834	CHARGE syndrome	MedlinePlus	CURATED	5
ENSP00000392028	CHD7	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000392028	CHD7	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000392028	CHD7	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000392028	CHD7	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000392028	CHD7	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000392028	CHD7	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000392043	ATP2B1	DOID:10763	Hypertension	MedlinePlus	CURATED	5
ENSP00000392065	REPS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000392094	EFTUD2	DOID:0080196	Mandibulofacial dysostosis, Guion-Almeida type	MedlinePlus	CURATED	5
ENSP00000392197	REEP1	DOID:0110782	Hereditary spastic paraplegia 31	MedlinePlus	CURATED	5
ENSP00000392197	REEP1	DOID:0111203	Autosomal dominant distal hereditary motor neuronopathy 5	MedlinePlus	CURATED	5
ENSP00000392197	REEP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000392197	REEP1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000392197	REEP1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000392204	KLLN	DOID:6457	Cowden syndrome	MedlinePlus	CURATED	5
ENSP00000392330	BCAP31	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000392423	RELN	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000392423	RELN	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000392423	RELN	DOID:0060748	Familial temporal lobe epilepsy 1	MedlinePlus	CURATED	5
ENSP00000392423	RELN	DOID:0112232	Lissencephaly 3	MedlinePlus	CURATED	5
ENSP00000392423	RELN	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000392495	TRAPPC2	DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda	MedlinePlus	CURATED	5
ENSP00000392500	NLGN1	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000392709	NDUFS1	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000392709	NDUFS1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000392762	DCT	DOID:0050632	Oculocutaneous albinism	MedlinePlus	CURATED	5
ENSP00000392812	PIK3R5	DOID:0050755	Spinocerebellar ataxia with axonal neuropathy 2	MedlinePlus	CURATED	5
ENSP00000392812	PIK3R5	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000392906	PLEKHG2	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000393097	GABRA1	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000393097	GABRA1	DOID:1825	Childhood absence epilepsy	MedlinePlus	CURATED	5
ENSP00000393097	GABRA1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000393097	GABRA1	DOID:4890	Juvenile myoclonic epilepsy	MedlinePlus	CURATED	5
ENSP00000393099	MAPKBP1	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000393222	CFAP221	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000393312	FGFR1	DOID:0111532	Osteoglophonic dysplasia	MedlinePlus	CURATED	5
ENSP00000393312	FGFR1	DOID:14705	Pfeiffer syndrome	MedlinePlus	CURATED	5
ENSP00000393312	FGFR1	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000393312	FGFR1	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000393312	FGFR1	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000393312	FGFR1	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000393312	FGFR1	DOID:4621	Holoprosencephaly	UniProtKB-KW	CURATED	4
ENSP00000393312	FGFR1	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000393417	CASP14	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000393541	IFT27	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000393541	IFT27	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000393557	SLC4A4	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000393559	PACS2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000393762	SESN1	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000393840	BLOC1S3	DOID:3753	Hermansky-Pudlak syndrome	MedlinePlus	CURATED	5
ENSP00000393840	BLOC1S3	DOID:3753	Hermansky-Pudlak syndrome	UniProtKB-KW	CURATED	4
ENSP00000394624	OPRM1	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000394624	OPRM1	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000395012	KLHL24	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000395012	KLHL24	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000395473	MAN2B1	DOID:3413	alpha-mannosidosis	MedlinePlus	CURATED	5
ENSP00000395474	SNX10	DOID:13533	Osteopetrosis	UniProtKB-KW	CURATED	4
ENSP00000395535	MECP2	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000395535	MECP2	DOID:0060799	Syndromic X-linked intellectual disability Lubs type	MedlinePlus	CURATED	5
ENSP00000395535	MECP2	DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome	MedlinePlus	CURATED	5
ENSP00000395535	MECP2	DOID:0111932	Severe congenital encephalopathy due to MECP2 mutation	MedlinePlus	CURATED	5
ENSP00000395535	MECP2	DOID:1206	Rett syndrome	MedlinePlus	CURATED	5
ENSP00000395929	NSD1	DOID:14748	Sotos syndrome	MedlinePlus	CURATED	5
ENSP00000395929	NSD1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000396052	BRMS1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000396198	FGF13	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000396320	SCN4A	DOID:0111538	Paramyotonia congenita of Von Eulenburg	MedlinePlus	CURATED	5
ENSP00000396320	SCN4A	DOID:14451	Hyperkalemic periodic paralysis	MedlinePlus	CURATED	5
ENSP00000396320	SCN4A	DOID:14452	Hypokalemic periodic paralysis	MedlinePlus	CURATED	5
ENSP00000396320	SCN4A	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000396320	SCN4A	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000396330	HLA-DQB2	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000396688	C4A	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000396688	C4A	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000396688	C4A	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000396915	SCN1B	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000396915	SCN1B	DOID:0050451	Brugada syndrome	UniProtKB-KW	CURATED	4
ENSP00000396915	SCN1B	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000396915	SCN1B	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000396915	SCN1B	DOID:0060170	Generalized epilepsy with febrile seizures plus	MedlinePlus	CURATED	5
ENSP00000396915	SCN1B	DOID:0111073	Progressive familial heart block	MedlinePlus	CURATED	5
ENSP00000396915	SCN1B	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000397026	GRIK2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000397082	SFTPA1	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000397157	PERP	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000397402	TSEN34	DOID:0060264	Pontocerebellar hypoplasia	MedlinePlus	CURATED	5
ENSP00000397402	TSEN34	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000397441	COG6	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000397566	GTF2IRD1	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000397598	KY	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000397881	PET117	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000398017	CLDN9	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000398368	LIFR	DOID:0111563	Sturge-Weber syndrome	MedlinePlus	CURATED	5
ENSP00000398495	DIABLO-2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000398568	PRF1	DOID:0050120	Hemophagocytic lymphohistiocytosis	UniProtKB-KW	CURATED	4
ENSP00000398610	ANXA11	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000398610	ANXA11	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000398698	TNF	DOID:12842	Guillain-Barre syndrome	MedlinePlus	CURATED	5
ENSP00000398698	TNF	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000398698	TNF	DOID:8986	Narcolepsy	MedlinePlus	CURATED	5
ENSP00000398698	TNF	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000398824	PHF21A	DOID:0111687	Potocki-Shaffer syndrome	MedlinePlus	CURATED	5
ENSP00000398824	PHF21A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000398832	AGTR1	DOID:10763	Hypertension	MedlinePlus	CURATED	5
ENSP00000398837	KMT2B	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000398837	KMT2B	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000398890	HLA-DMB	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000399168	HLA-B	DOID:0050426	Stevens-Johnson syndrome	MedlinePlus	CURATED	5
ENSP00000399168	HLA-B	DOID:13241	Behcet's disease	MedlinePlus	CURATED	5
ENSP00000399168	HLA-B	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000399168	HLA-B	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000399168	HLA-B	DOID:8536	Herpes zoster	MedlinePlus	CURATED	5
ENSP00000399168	HLA-B	DOID:9008	Psoriatic arthritis	MedlinePlus	CURATED	5
ENSP00000399376	PRNP	AmyCo:36	Variably Protease-Sensitive Prionopathy	AmyCo	CURATED	4
ENSP00000399376	PRNP	AmyCo:67	PrP Systemic Amyloidosis	AmyCo	CURATED	4
ENSP00000399376	PRNP	DOID:0050433	Fatal familial insomnia	AmyCo	CURATED	4
ENSP00000399376	PRNP	DOID:11949	Creutzfeldt-Jakob disease	AmyCo	CURATED	4
ENSP00000399376	PRNP	DOID:4249	Gerstmann-Straussler-Scheinker syndrome	AmyCo	CURATED	4
ENSP00000399376	PRNP	DOID:648	Kuru	AmyCo	CURATED	4
ENSP00000399376	PRNP	DOID:649	Prion disease	MedlinePlus	CURATED	5
ENSP00000399376	PRNP	DOID:893	Wilson disease	MedlinePlus	CURATED	5
ENSP00000399376	PRNP	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000399392	C3orf52	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000399403	KLC2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000399403	KLC2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000399403	KLC2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000399457	DDOST	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000399709	BEST1	DOID:0050661	Vitelliform macular dystrophy	MedlinePlus	CURATED	5
ENSP00000399709	BEST1	DOID:0111569	Autosomal dominant vitreoretinochoroidopathy	MedlinePlus	CURATED	5
ENSP00000399709	BEST1	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000399709	BEST1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000399709	BEST1	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000399745	CHRM2	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000399851	POLG	DOID:0080122	Alpers-Huttenlocher syndrome	MedlinePlus	CURATED	5
ENSP00000399851	POLG	DOID:0080123	Mitochondrial DNA depletion syndrome 4b	MedlinePlus	CURATED	5
ENSP00000399851	POLG	DOID:0111276	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	MedlinePlus	CURATED	5
ENSP00000399851	POLG	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
ENSP00000399851	POLG	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000399851	POLG	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000399851	POLG	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000399851	POLG	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000399851	POLG	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000399851	POLG	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000400101	SLC25A13	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000400101	SLC25A13	DOID:9273	Citrullinemia	MedlinePlus	CURATED	5
ENSP00000400142	EWSR1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000400142	EWSR1	DOID:3369	Ewing sarcoma	MedlinePlus	CURATED	5
ENSP00000400175	RHOA	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000400252	DNAI2	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000400252	DNAI2	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000400341	FOXA2	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000400365	LAMA2	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000400365	LAMA2	DOID:0110636	Congenital merosin-deficient muscular dystrophy 1A	MedlinePlus	CURATED	5
ENSP00000400365	LAMA2	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000400365	LAMA2	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000400365	LAMA2	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000400376	ERAP2	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000400591	SNRPE	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000400646	PNPT1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000400646	PNPT1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000400646	PNPT1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000400646	PNPT1	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000400646	PNPT1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000400906	UBE2L3	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000400908	MYBPC1	DOID:0111596	Distal arthrogryposis type 1	MedlinePlus	CURATED	5
ENSP00000401112	SATB2	DOID:0060428	SATB2-associated syndrome	MedlinePlus	CURATED	5
ENSP00000401145	GAS2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000401191	BUD23	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000401371	TIA1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000401371	TIA1	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000401435	VPS53	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000401435	VPS53	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000401437	LDB3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000401437	LDB3	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000401437	LDB3	DOID:0080307	Myofibrillar myopathy	MedlinePlus	CURATED	5
ENSP00000401437	LDB3	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000401437	LDB3	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000401513	STRC	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000401513	STRC	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000401514	DNAH1	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000401514	DNAH1	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000401888	RAF1	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000401888	RAF1	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000401888	RAF1	DOID:14291	Noonan syndrome with multiple lentigines	MedlinePlus	CURATED	5
ENSP00000401888	RAF1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000401888	RAF1	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000401907	BMPR1B	DOID:14557	Primary pulmonary hypertension	MedlinePlus	CURATED	5
ENSP00000402038	MTO1	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000402152	SLC12A3	DOID:0050450	Gitelman syndrome	MedlinePlus	CURATED	5
ENSP00000402257	RUNX1T1	DOID:0080796	Core binding factor acute myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000402257	RUNX1T1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000402510	MTRR	DOID:9263	Homocystinuria	MedlinePlus	CURATED	5
ENSP00000402608	CPS1	DOID:9280	Carbamoyl phosphate synthetase I deficiency disease	MedlinePlus	CURATED	5
ENSP00000402760	SLC22A5	DOID:14365	Systemic primary carnitine deficiency disease	MedlinePlus	CURATED	5
ENSP00000402760	SLC22A5	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000402797	KCNK4	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000403343	AAMP	DOID:9538	Multiple myeloma	MedlinePlus	CURATED	5
ENSP00000403362	AP2M1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000403396	FAM126A	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000403396	FAM126A	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000403465	CC2D2A	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000403465	CC2D2A	DOID:0050778	Meckel syndrome	MedlinePlus	CURATED	5
ENSP00000403465	CC2D2A	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000403495	LTA	DOID:1024	Leprosy	MedlinePlus	CURATED	5
ENSP00000403495	LTA	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000403536	GAMT	DOID:0050799	Guanidinoacetate methyltransferase deficiency	MedlinePlus	CURATED	5
ENSP00000403644	DDC	DOID:0090123	Aromatic L-amino acid decarboxylase deficiency	MedlinePlus	CURATED	5
ENSP00000403645	TANGO2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000403663	AP4M1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000403663	AP4M1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000403768	AASS	DOID:9274	Hyperlysinemia	MedlinePlus	CURATED	5
ENSP00000404122	IFT74	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000404122	IFT74	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000404122	IFT74	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000404190	RACGAP1	DOID:1338	Congenital dyserythropoietic anemia	MedlinePlus	CURATED	5
ENSP00000404190	RACGAP1	DOID:1338	Congenital dyserythropoietic anemia	UniProtKB-KW	CURATED	4
ENSP00000404190	RACGAP1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000404220	CCDC155	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000404833	TAPBP	DOID:0060009	MHC class I deficiency	MedlinePlus	CURATED	5
ENSP00000404854	NDRG1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000404854	NDRG1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000404854	NDRG1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000404854	NDRG1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000405004	ACVR1	DOID:13374	Fibrodysplasia ossificans progressiva	MedlinePlus	CURATED	5
ENSP00000405327	ETV1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000405327	ETV1	DOID:3369	Ewing sarcoma	MedlinePlus	CURATED	5
ENSP00000405424	OXR1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000405453	MSR1	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000405573	GPI	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000405738	ESRP1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000405890	PBX1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000406012	IFT140	DOID:0050592	Asphyxiating thoracic dystrophy	MedlinePlus	CURATED	5
ENSP00000406012	IFT140	DOID:0110097	short-rib thoracic dysplasia 9 with or without polydactyly	MedlinePlus	CURATED	5
ENSP00000406012	IFT140	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000406022	UNC5C	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000406022	UNC5C	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000406022	UNC5C	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000406191	TRPV4	DOID:0111514	Metatropic dysplasia	MedlinePlus	CURATED	5
ENSP00000406191	TRPV4	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000406191	TRPV4	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000406191	TRPV4	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000406191	TRPV4	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000406220	SLC13A5	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000406220	SLC13A5	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000406229	FAT1	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000406229	FAT1	DOID:5520	Head and neck squamous cell carcinoma	MedlinePlus	CURATED	5
ENSP00000406490	PMS1	DOID:3883	Lynch syndrome	UniProtKB-KW	CURATED	4
ENSP00000406549	TAF1	DOID:0090057	X-linked dystonia-parkinsonism	MedlinePlus	CURATED	5
ENSP00000406549	TAF1	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000406549	TAF1	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000406723	GTF2IRD2	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000406773	DCD	AmyCo:17	Apolipoprotein A-I associated Amyloidosis	AmyCo	CURATED	4
ENSP00000406925	ODAPH	DOID:2187	Amelogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000406925	ODAPH	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000407193	ARSG	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000407336	NDUFB3	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000407422	MUC7	DOID:2841	Asthma	UniProtKB-KW	CURATED	4
ENSP00000407509	PNPLA6	DOID:0111265	Boucher-Neuhauser syndrome	MedlinePlus	CURATED	5
ENSP00000407509	PNPLA6	DOID:0111587	Gordon Holmes syndrome	MedlinePlus	CURATED	5
ENSP00000407509	PNPLA6	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000407509	PNPLA6	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000407509	PNPLA6	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000407509	PNPLA6	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000407509	PNPLA6	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000407552	GAS7	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000407586	HRAS	DOID:0050469	Costello syndrome	MedlinePlus	CURATED	5
ENSP00000407586	HRAS	DOID:0111162	Epidermal nevus	MedlinePlus	CURATED	5
ENSP00000407586	HRAS	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000407586	HRAS	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000407586	HRAS	DOID:5520	Head and neck squamous cell carcinoma	MedlinePlus	CURATED	5
ENSP00000407685	TNXB	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000407685	TNXB	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000408146	HLA-DPB1	DOID:12132	Granulomatosis with polyangiitis	MedlinePlus	CURATED	5
ENSP00000408146	HLA-DPB1	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000408292	TRIM32	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000408292	TRIM32	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000408292	TRIM32	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000408292	TRIM32	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000408292	TRIM32	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000408411	LAMP2	DOID:0050437	Danon disease	MedlinePlus	CURATED	5
ENSP00000408411	LAMP2	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000408695	PRKCA	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000408910	DCTN2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000408979	KIF5A	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000408979	KIF5A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000408979	KIF5A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000408979	KIF5A	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000408979	KIF5A	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000409007	GDNF	DOID:10487	Hirschsprung's disease	MedlinePlus	CURATED	5
ENSP00000409007	GDNF	DOID:10487	Hirschsprung's disease	UniProtKB-KW	CURATED	4
ENSP00000409016	TBRG1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000409544	CLDN4	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000409594	ZFYVE27	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000409594	ZFYVE27	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000409667	SYNJ1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000409667	SYNJ1	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000409667	SYNJ1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000409906	USP53	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000410242	IGF2BP2	DOID:11714	Gestational diabetes	MedlinePlus	CURATED	5
ENSP00000410294	FGFR2	DOID:0050331	Lacrimoauriculodentodigital syndrome 1	UniProtKB-KW	CURATED	4
ENSP00000410294	FGFR2	DOID:0050660	Beare-Stevenson cutis gyrata syndrome	MedlinePlus	CURATED	5
ENSP00000410294	FGFR2	DOID:0081370	LADD syndrome	MedlinePlus	CURATED	5
ENSP00000410294	FGFR2	DOID:0111162	Epidermal nevus	MedlinePlus	CURATED	5
ENSP00000410294	FGFR2	DOID:0111337	Jackson-Weiss syndrome	MedlinePlus	CURATED	5
ENSP00000410294	FGFR2	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000410294	FGFR2	DOID:12960	Acrocephalosyndactylia	MedlinePlus	CURATED	5
ENSP00000410294	FGFR2	DOID:14705	Pfeiffer syndrome	MedlinePlus	CURATED	5
ENSP00000410294	FGFR2	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000410294	FGFR2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000410294	FGFR2	DOID:2339	Crouzon syndrome	MedlinePlus	CURATED	5
ENSP00000410294	FGFR2	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000410294	FGFR2	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000410715	SFRP4	DOID:0080019	Metaphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000410732	GABRG2	DOID:0060170	Generalized epilepsy with febrile seizures plus	MedlinePlus	CURATED	5
ENSP00000410732	GABRG2	DOID:1825	Childhood absence epilepsy	MedlinePlus	CURATED	5
ENSP00000410732	GABRG2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000410746	DOCK4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000410769	CNBP	DOID:11722	Myotonic dystrophy type 1	MedlinePlus	CURATED	5
ENSP00000410833	GBE1	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000410833	GBE1	DOID:2750	Glycogen storage disease IV	MedlinePlus	CURATED	5
ENSP00000410833	GBE1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000410964	ERLIN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000410964	ERLIN1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000411013	TMPRSS3	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000411013	TMPRSS3	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000411073	BCL7B	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000411073	BCL7B	DOID:1928	Williams-Beuren syndrome	UniProtKB-KW	CURATED	4
ENSP00000411096	ABCA13	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000411145	FEZF1	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000411145	FEZF1	DOID:3614	Kallmann syndrome	MedlinePlus	CURATED	5
ENSP00000411145	FEZF1	DOID:3614	Kallmann syndrome	UniProtKB-KW	CURATED	4
ENSP00000411242	FNDC3B	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000411355	PTPRC	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000411418	RAB3GAP1	DOID:0111586	Martsolf syndrome	MedlinePlus	CURATED	5
ENSP00000411418	RAB3GAP1	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000411418	RAB3GAP1	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000411418	RAB3GAP1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000411418	RAB3GAP1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000411593	GLRA1	DOID:0060695	Hyperekplexia	MedlinePlus	CURATED	5
ENSP00000411770	COLEC11	DOID:0060225	3MC syndrome	MedlinePlus	CURATED	5
ENSP00000411825	PDCD6IP	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000411932	LMOD2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000411960	HSD17B4	DOID:0050857	Perrault syndrome	MedlinePlus	CURATED	5
ENSP00000411960	HSD17B4	DOID:0090031	D-bifunctional protein deficiency	MedlinePlus	CURATED	5
ENSP00000412130	MRVI1	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000412237	IL10	DOID:8536	Herpes zoster	MedlinePlus	CURATED	5
ENSP00000412237	IL10	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000412673	GABRR1	DOID:5418	Schizoaffective disorder	MedlinePlus	CURATED	5
ENSP00000412940	FREM1	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000412940	FREM1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000412940	FREM1	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000413001	AGBL1	DOID:11555	Fuchs' endothelial dystrophy	MedlinePlus	CURATED	5
ENSP00000413017	CCDC28B	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000413017	CCDC28B	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000413079	MICA	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000413079	MICA	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000413436	RPL10	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000413479	KRT3	DOID:0060451	Meesmann corneal dystrophy	MedlinePlus	CURATED	5
ENSP00000413496	FGF12	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000413520	HID1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000413720	CDKN1C	DOID:0050885	IMAGe syndrome	MedlinePlus	CURATED	5
ENSP00000413720	CDKN1C	DOID:14681	Silver-Russell syndrome	MedlinePlus	CURATED	5
ENSP00000413720	CDKN1C	DOID:5572	Beckwith-Wiedemann syndrome	MedlinePlus	CURATED	5
ENSP00000413908	BCS1L	DOID:0050677	Bjornstad syndrome	MedlinePlus	CURATED	5
ENSP00000413908	BCS1L	DOID:0111139	Mitochondrial complex III deficiency	MedlinePlus	CURATED	5
ENSP00000413908	BCS1L	DOID:0111455	GRACILE syndrome	MedlinePlus	CURATED	5
ENSP00000413908	BCS1L	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000413937	INPP5K	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000413937	INPP5K	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000414147	SPART	DOID:0050886	Troyer syndrome	MedlinePlus	CURATED	5
ENSP00000414147	SPART	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000414147	SPART	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000414150	ERG	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000414150	ERG	DOID:3369	Ewing sarcoma	MedlinePlus	CURATED	5
ENSP00000414303	BDNF	DOID:14515	WAGR syndrome	MedlinePlus	CURATED	5
ENSP00000414303	BDNF	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000414321	RPS24	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000414321	RPS24	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000414390	CFAP300	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000414390	CFAP300	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000414516	SS18	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000414521	MID1	DOID:0080697	Opitz GBBB syndrome	MedlinePlus	CURATED	5
ENSP00000414644	CARF	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000414670	LMOD3	DOID:3191	Nemaline myopathy	MedlinePlus	CURATED	5
ENSP00000414670	LMOD3	DOID:3191	Nemaline myopathy	UniProtKB-KW	CURATED	4
ENSP00000415011	SLC30A8	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000415034	NBEAL2	DOID:0111044	Gray platelet syndrome	MedlinePlus	CURATED	5
ENSP00000415151	CBFB	DOID:0080796	Core binding factor acute myeloid leukemia	MedlinePlus	CURATED	5
ENSP00000415151	CBFB	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000415517	TSBP1	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000415941	C4B	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000415941	C4B	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000416002	SLC35A2	DOID:0070265	Congenital disorder of glycosylation type IIm	MedlinePlus	CURATED	5
ENSP00000416002	SLC35A2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000416002	SLC35A2	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000416040	KIAA1549	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000416066	SERPINA1	AmyCo:17	Apolipoprotein A-I associated Amyloidosis	AmyCo	CURATED	4
ENSP00000416066	SERPINA1	DOID:0050637	Finnish type amyloidosis	AmyCo	CURATED	4
ENSP00000416066	SERPINA1	DOID:13372	Alpha 1-antitrypsin deficiency	MedlinePlus	CURATED	5
ENSP00000416250	EIF2B1	DOID:0060868	Leukoencephalopathy with vanishing white matter	MedlinePlus	CURATED	5
ENSP00000416250	EIF2B1	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000416255	EIF4G1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000416255	EIF4G1	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000416293	SLC2A1	DOID:0090053	Episodic kinesigenic dyskinesia 1	MedlinePlus	CURATED	5
ENSP00000416293	SLC2A1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000416293	SLC2A1	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000416293	SLC2A1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000416293	SLC2A1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000416330	TGFBI	DOID:0060444	Granular corneal dystrophy 2	AmyCo	CURATED	4
ENSP00000416330	TGFBI	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000416330	TGFBI	DOID:8943	Lattice corneal dystrophy	AmyCo	CURATED	4
ENSP00000416330	TGFBI	DOID:8943	Lattice corneal dystrophy	MedlinePlus	CURATED	5
ENSP00000416330	TGFBI	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000416338	MFN2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000416338	MFN2	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000416338	MFN2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000416338	MFN2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000416515	FDXR	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000416515	FDXR	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000416561	CFB	DOID:0080301	Atypical hemolytic-uremic syndrome	MedlinePlus	CURATED	5
ENSP00000416561	CFB	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000416561	CFB	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000416561	CFB	DOID:12554	hemolytic-uremic syndrome	UniProtKB-KW	CURATED	4
ENSP00000416606	FSHB	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000416606	FSHB	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000416741	HS3ST6	DOID:14735	Hereditary angioedema	MedlinePlus	CURATED	5
ENSP00000416787	GALNT11	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000417052	EBP	DOID:0080352	X-linked chondrodysplasia punctata 2	MedlinePlus	CURATED	5
ENSP00000417052	EBP	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000417061	CFAP74	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000417061	CFAP74	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000417132	BAP1	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000417132	BAP1	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000417161	GPR143	DOID:0050633	Ocular albinism 1	MedlinePlus	CURATED	5
ENSP00000417175	VAPB	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000417175	VAPB	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000417175	VAPB	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000417185	VWA1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000417261	GPR156	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000417335	ROBO2	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000417404	HFE	DOID:13268	Porphyria	MedlinePlus	CURATED	5
ENSP00000417404	HFE	DOID:2352	Hemochromatosis	MedlinePlus	CURATED	5
ENSP00000417610	RAB23	DOID:0060234	Carpenter syndrome	MedlinePlus	CURATED	5
ENSP00000417610	RAB23	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000417763	NAA10	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000417763	NAA10	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000417763	NAA10	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000417764	ALG2	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000417764	ALG2	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000417901	GPHN	DOID:0111165	Molybdenum cofactor deficiency	MedlinePlus	CURATED	5
ENSP00000417955	VWA3B	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000417960	CCDC39	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000417960	CCDC39	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000417963	PPP2R5D	DOID:0070065	Autosomal dominant intellectual developmental disorder 35	MedlinePlus	CURATED	5
ENSP00000417980	EHMT1	DOID:0080597	Kleefstra syndrome	MedlinePlus	CURATED	5
ENSP00000418037	IRF5	DOID:418	Systemic scleroderma	MedlinePlus	CURATED	5
ENSP00000418037	IRF5	DOID:8577	Ulcerative colitis	MedlinePlus	CURATED	5
ENSP00000418037	IRF5	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000418037	IRF5	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000418081	CACNA2D2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000418096	SLC45A1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000418259	ZFP57	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000418525	MME	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000418525	MME	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000418525	MME	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000418525	MME	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000418525	MME	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000418751	BTBD9	DOID:0050425	Restless legs syndrome	MedlinePlus	CURATED	5
ENSP00000418803	TIMMDC1	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000418823	FTO	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000418823	FTO	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000418915	CDKN2A	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000418915	CDKN2A	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000418915	CDKN2A	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000418915	CDKN2A	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000418915	CDKN2A	DOID:3012	Li-Fraumeni syndrome	UniProtKB-KW	CURATED	4
ENSP00000418915	CDKN2A	DOID:5520	Head and neck squamous cell carcinoma	MedlinePlus	CURATED	5
ENSP00000418960	BRCA1	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000418960	BRCA1	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000418960	BRCA1	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000418960	BRCA1	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000418960	BRCA1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000418960	BRCA1	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000418960	BRCA1	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000419027	PCCB	DOID:14701	Propionic acidemia	MedlinePlus	CURATED	5
ENSP00000419060	BRAF	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000419060	BRAF	DOID:0060233	Cardiofaciocutaneous syndrome	MedlinePlus	CURATED	5
ENSP00000419060	BRAF	DOID:0111359	Large congenital melanocytic nevus	MedlinePlus	CURATED	5
ENSP00000419060	BRAF	DOID:1324	Lung cancer	MedlinePlus	CURATED	5
ENSP00000419060	BRAF	DOID:14291	Noonan syndrome with multiple lentigines	MedlinePlus	CURATED	5
ENSP00000419060	BRAF	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000419060	BRAF	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000419060	BRAF	DOID:2571	Langerhans-cell histiocytosis	MedlinePlus	CURATED	5
ENSP00000419060	BRAF	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000419060	BRAF	DOID:4329	Erdheim-Chester disease	MedlinePlus	CURATED	5
ENSP00000419060	BRAF	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000419060	BRAF	DOID:9253	Gastrointestinal stromal tumor	MedlinePlus	CURATED	5
ENSP00000419060	BRAF	DOID:9538	Multiple myeloma	MedlinePlus	CURATED	5
ENSP00000419243	FXN	DOID:12705	Friedreich ataxia	MedlinePlus	CURATED	5
ENSP00000419411	GCNT2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000419412	SLC4A2	DOID:13533	Osteopetrosis	UniProtKB-KW	CURATED	4
ENSP00000419446	ADAM9	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000419446	ADAM9	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000419457	NOBOX	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000419465	WWTR1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000419619	ARL6	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000419619	ARL6	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000419619	ARL6	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000419619	ARL6	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000419652	TTC12	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000419652	TTC12	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000419782	CDK5	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000419782	CDK5	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000419851	GMPS	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000419923	KLF6	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000419970	POR	DOID:0080925	Cytochrome P450 oxidoreductase deficiency	MedlinePlus	CURATED	5
ENSP00000419970	POR	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000420037	PIGP	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000420194	CASR	DOID:0090109	Autosomal dominant hypocalcemia	MedlinePlus	CURATED	5
ENSP00000420194	CASR	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000420194	CASR	DOID:585	Nephrolithiasis	MedlinePlus	CURATED	5
ENSP00000420213	FLNB	DOID:0050680	Boomerang dysplasia	MedlinePlus	CURATED	5
ENSP00000420213	FLNB	DOID:0090116	Spondylocarpotarsal synostosis syndrome	MedlinePlus	CURATED	5
ENSP00000420213	FLNB	DOID:14764	Larsen syndrome	MedlinePlus	CURATED	5
ENSP00000420295	PDE6B	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000420295	PDE6B	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000420295	PDE6B	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000420321	ROBO1	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000420387	ATP11A	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000420387	ATP11A	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000420387	ATP11A	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000420387	ATP11A	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000420525	TFR2	DOID:2352	Hemochromatosis	MedlinePlus	CURATED	5
ENSP00000420608	EMC1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000420860	PRIMPOL	DOID:11830	Myopia	MedlinePlus	CURATED	5
ENSP00000421275	SLC10A7	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000421326	ATP2C1	DOID:0050429	Hailey-Hailey disease	MedlinePlus	CURATED	5
ENSP00000421380	SNF8	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000421985	FNIP1	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000422176	CAST	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000422176	CAST	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000422834	FRAS1	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000422834	FRAS1	DOID:0090001	Fraser syndrome	MedlinePlus	CURATED	5
ENSP00000422834	FRAS1	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000422834	FRAS1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000423067	WDR36	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000423660	SH3TC2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000423660	SH3TC2	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000423660	SH3TC2	DOID:12169	Carpal tunnel syndrome	MedlinePlus	CURATED	5
ENSP00000423660	SH3TC2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000423660	SH3TC2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000423673	NDUFA13	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000424226	TENM3	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000424226	TENM3	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000424226	TENM3	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000424261	PTTG2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000424571	FBN2	DOID:0111595	Congenital contractural arachnodactyly	MedlinePlus	CURATED	5
ENSP00000424630	ADH4	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000424711	CLRN2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000424757	NEK1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000424757	NEK1	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000424846	SH3BP2	DOID:1856	Cherubism	MedlinePlus	CURATED	5
ENSP00000425130	UVSSA	DOID:0060240	UV-sensitive syndrome	MedlinePlus	CURATED	5
ENSP00000425561	EIF4E	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000425634	HARS1	DOID:0050439	Usher syndrome	MedlinePlus	CURATED	5
ENSP00000425634	HARS1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000425634	HARS1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000425634	HARS1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000425634	HARS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000425634	HARS1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000425809	PGM3	DOID:0111953	Immunodeficiency 23	MedlinePlus	CURATED	5
ENSP00000425864	BORCS8	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000425979	DROSHA	DOID:2154	Nephroblastoma	MedlinePlus	CURATED	5
ENSP00000426083	ADH1C	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000426359	MCIDAS	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000426359	MCIDAS	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000426455	RNASET2	DOID:0081007	RNASET2-deficient cystic leukoencephalopathy	MedlinePlus	CURATED	5
ENSP00000426638	ETFDH	DOID:0060358	Multiple acyl-CoA dehydrogenase deficiency	MedlinePlus	CURATED	5
ENSP00000426638	ETFDH	DOID:9252	Amino acid metabolic disorder	UniProtKB-KW	CURATED	4
ENSP00000426809	PROM1	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000426809	PROM1	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000426809	PROM1	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000426809	PROM1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000426809	PROM1	DOID:4448	Macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000426983	CLOCK	DOID:0060167	Seasonal affective disorder	MedlinePlus	CURATED	5
ENSP00000427004	GFM2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000427603	GABRA2	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000427603	GABRA2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000427679	MTTP	DOID:1386	Abetalipoproteinemia	MedlinePlus	CURATED	5
ENSP00000427793	WWP1	DOID:6457	Cowden syndrome	MedlinePlus	CURATED	5
ENSP00000427926	RHOBTB2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000428056	PIK3R1	DOID:0111454	SHORT syndrome	MedlinePlus	CURATED	5
ENSP00000428056	PIK3R1	DOID:0111936	Immunodeficiency 14	MedlinePlus	CURATED	5
ENSP00000428112	ERLIN2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000428112	ERLIN2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000428220	IRGM	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000428340	ANGPT1	DOID:14735	Hereditary angioedema	MedlinePlus	CURATED	5
ENSP00000428417	RIMS1	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000428417	RIMS1	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000428876	FAM83A	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000428924	LYN	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000429323	EIF2B4	DOID:0060868	Leukoencephalopathy with vanishing white matter	MedlinePlus	CURATED	5
ENSP00000429323	EIF2B4	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000430075	AMPD1	DOID:0060358	Multiple acyl-CoA dehydrogenase deficiency	MedlinePlus	CURATED	5
ENSP00000430236	ALG11	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000430276	MCF2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000430494	UQCRB	DOID:0111139	Mitochondrial complex III deficiency	MedlinePlus	CURATED	5
ENSP00000430684	IKBKB	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000430711	TRHR	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000430711	TRHR	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000430947	HSF4	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000431012	ARHGEF10	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000431418	NTRK1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000431759	CFAP54	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000431813	CSRP3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000431813	CSRP3	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000431813	CSRP3	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000431840	SLC24A4	DOID:2187	Amelogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000431840	SLC24A4	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000431885	TYK2	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000431885	TYK2	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000431885	TYK2	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000431926	AMBRA1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000431984	CAPN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000431984	CAPN1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000432511	JAK3	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000432568	SPTBN2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000432770	EYA4	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000432770	EYA4	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000432770	EYA4	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000432770	EYA4	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000432886	RNPC3	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000433157	BBIP1	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000433157	BBIP1	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000433277	MS4A1	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000433295	KCNJ5	DOID:0050434	Andersen-Tawil syndrome	MedlinePlus	CURATED	5
ENSP00000433295	KCNJ5	DOID:2843	Long QT syndrome	MedlinePlus	CURATED	5
ENSP00000433295	KCNJ5	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000433488	FLI1	DOID:0111723	Jacobsen Syndrome	MedlinePlus	CURATED	5
ENSP00000433488	FLI1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000433488	FLI1	DOID:3369	Ewing sarcoma	MedlinePlus	CURATED	5
ENSP00000433490	CALCB	DOID:3973	Thyroid gland medullary carcinoma	AmyCo	CURATED	4
ENSP00000433560	CRYAB	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000433560	CRYAB	DOID:0080307	Myofibrillar myopathy	MedlinePlus	CURATED	5
ENSP00000433560	CRYAB	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000433560	CRYAB	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000433560	CRYAB	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000433666	FGD4	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000433666	FGD4	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000433666	FGD4	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000433666	FGD4	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000433681	NCAPD3	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000434034	FZD4	DOID:0050535	Exudative vitreoretinopathy	MedlinePlus	CURATED	5
ENSP00000434241	KCNC3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000434241	KCNC3	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000434364	SLC6A5	DOID:0060695	Hyperekplexia	MedlinePlus	CURATED	5
ENSP00000434412	SERPINH1	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000434412	SERPINH1	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000434435	FAM111A	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000434480	ACER3	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000434995	CLP1	DOID:0060264	Pontocerebellar hypoplasia	MedlinePlus	CURATED	5
ENSP00000434995	CLP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000435365	TOR1AIP1	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000435509	ZIC4	DOID:2785	Dandy-Walker syndrome	MedlinePlus	CURATED	5
ENSP00000435585	EPS8L2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000435712	GATA4	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000435712	GATA4	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000435712	GATA4	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000435712	GATA4	DOID:1882	Atrial heart septal defect	UniProtKB-KW	CURATED	4
ENSP00000435712	GATA4	DOID:3827	Congenital diaphragmatic hernia	MedlinePlus	CURATED	5
ENSP00000436126	SAA2	AmyCo:29	AA Amyloidosis	AmyCo	CURATED	4
ENSP00000436126	SAA2	DOID:0050452	Mevalonic aciduria	AmyCo	CURATED	3
ENSP00000436126	SAA2	DOID:0050589	Inflammatory bowel disease	AmyCo	CURATED	3
ENSP00000436126	SAA2	DOID:0050747	DOID:0050747	AmyCo	CURATED	4
ENSP00000436126	SAA2	DOID:0060060	non-Hodgkin lymphoma	AmyCo	CURATED	4
ENSP00000436126	SAA2	DOID:0060645	Chronic recurrent multifocal osteomyelitis	AmyCo	CURATED	3
ENSP00000436126	SAA2	DOID:0090018	Autosomal dominant familial periodic fever	AmyCo	CURATED	3
ENSP00000436126	SAA2	DOID:0090029	CINCA Syndrome	AmyCo	CURATED	4
ENSP00000436126	SAA2	DOID:0111157	Castleman disease	AmyCo	CURATED	3
ENSP00000436126	SAA2	DOID:13189	Gout	AmyCo	CURATED	4
ENSP00000436126	SAA2	DOID:13241	Behcet's disease	AmyCo	CURATED	4
ENSP00000436126	SAA2	DOID:14179	X-linked agammaglobulinemia	AmyCo	CURATED	3
ENSP00000436126	SAA2	DOID:1485	Cystic fibrosis	AmyCo	CURATED	4
ENSP00000436126	SAA2	DOID:2987	Familial Mediterranean fever	AmyCo	CURATED	4
ENSP00000436126	SAA2	DOID:4371	Schnitzler syndrome	AmyCo	CURATED	3
ENSP00000436126	SAA2	DOID:4450	Renal cell carcinoma	AmyCo	CURATED	4
ENSP00000436126	SAA2	DOID:7147	Ankylosing spondylitis	AmyCo	CURATED	3
ENSP00000436126	SAA2	DOID:7148	Rheumatoid arthritis	AmyCo	CURATED	4
ENSP00000436126	SAA2	DOID:9074	Systemic lupus erythematosus	AmyCo	CURATED	3
ENSP00000436126	SAA2	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000436126	SAA2	DOID:9563	Bronchiectasis	AmyCo	CURATED	4
ENSP00000436126	SAA2	DOID:9810	Polyarteritis nodosa	AmyCo	CURATED	3
ENSP00000436552	IGSF9B	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000436682	ARMS2	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000436682	ARMS2	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000436786	KMT2A	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000436786	KMT2A	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000436812	MUC5B	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000436975	DNAAF3	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000436975	DNAAF3	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000437256	DICER1	DOID:0081063	DICER1 syndrome	MedlinePlus	CURATED	5
ENSP00000437621	HMGA2	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000437621	HMGA2	DOID:14681	Silver-Russell syndrome	MedlinePlus	CURATED	5
ENSP00000437621	HMGA2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000437659	PHC1	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000437737	HTR2A	DOID:0060167	Seasonal affective disorder	MedlinePlus	CURATED	5
ENSP00000437737	HTR2A	DOID:10933	obsessive-compulsive disorder	MedlinePlus	CURATED	5
ENSP00000437737	HTR2A	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000437737	HTR2A	DOID:631	Fibromyalgia	MedlinePlus	CURATED	5
ENSP00000437849	TRPM1	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000437849	TRPM1	DOID:0110865	Congenital stationary night blindness 1B	MedlinePlus	CURATED	5
ENSP00000438209	SP6	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000438248	CALU	DOID:0080665	Warfarin resistance	MedlinePlus	CURATED	5
ENSP00000438262	TJP2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000438262	TJP2	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000438273	BBS12	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000438273	BBS12	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000438273	BBS12	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000438388	KIF1A	DOID:0070161	Hereditary sensory and autonomic neuropathy type 2	MedlinePlus	CURATED	5
ENSP00000438388	KIF1A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000438388	KIF1A	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000438388	KIF1A	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000438689	ACADVL	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000438689	ACADVL	DOID:0080155	Very long chain acyl-CoA dehydrogenase deficiency	MedlinePlus	CURATED	5
ENSP00000438748	SMG8	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000438788	CUL7	DOID:0060241	3-M syndrome	MedlinePlus	CURATED	5
ENSP00000438804	HNF1A	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000438804	HNF1A	DOID:13317	Hyperinsulinemic hypoglycemia	MedlinePlus	CURATED	5
ENSP00000438804	HNF1A	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000438804	HNF1A	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000438949	CACNB4	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000438949	CACNB4	DOID:4890	Juvenile myoclonic epilepsy	MedlinePlus	CURATED	5
ENSP00000439020	TUBA1A	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000439020	TUBA1A	DOID:0112232	Lissencephaly 3	MedlinePlus	CURATED	5
ENSP00000439020	TUBA1A	DOID:0112237	Lissencephaly 1	MedlinePlus	CURATED	5
ENSP00000439068	CRADD	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000439170	TBCE	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000439244	CIZ1	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000439585	ATXN7-2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000439585	ATXN7-2	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000439625	PLEKHG5	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000439625	PLEKHG5	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000439625	PLEKHG5	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000439625	PLEKHG5	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000439800	ZMYND8	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000440045	ATP2A2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000440045	ATP2A2	DOID:2734	Keratosis follicularis	MedlinePlus	CURATED	5
ENSP00000440185	PDYN	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000440185	PDYN	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000440374	MCF2L	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000440374	MCF2L	DOID:8398	Osteoarthritis	MedlinePlus	CURATED	5
ENSP00000440402	DDX11	DOID:0060535	Warsaw breakage syndrome	MedlinePlus	CURATED	5
ENSP00000440905	LNPK	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000440984	AP3B2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000441065	SLC16A1	DOID:13317	Hyperinsulinemic hypoglycemia	MedlinePlus	CURATED	5
ENSP00000441235	TSHR	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000441235	TSHR	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000441235	TSHR	DOID:12361	Graves' disease	MedlinePlus	CURATED	5
ENSP00000441858	DMXL2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000441858	DMXL2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000441858	DMXL2	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000441858	DMXL2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000441858	DMXL2	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000441930	PIH1D3	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000441930	PIH1D3	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000441953	ORC4	DOID:0060306	Meier-Gorlin syndrome	MedlinePlus	CURATED	5
ENSP00000442050	PCYT2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000442050	PCYT2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000442397	SLC34A3	DOID:0050336	Hypophosphatemia	MedlinePlus	CURATED	5
ENSP00000442563	POLG2	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
ENSP00000442563	POLG2	DOID:12558	Chronic progressive external ophthalmoplegia	UniProtKB-KW	CURATED	4
ENSP00000442600	DAG1	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000442600	DAG1	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000442600	DAG1	DOID:0050560	Walker-Warburg syndrome	MedlinePlus	CURATED	5
ENSP00000442600	DAG1	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000442600	DAG1	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000442788	TET2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000442788	TET2	DOID:2224	Essential thrombocythemia	MedlinePlus	CURATED	5
ENSP00000442788	TET2	DOID:349	Systemic mastocytosis	MedlinePlus	CURATED	5
ENSP00000442788	TET2	DOID:4971	Myelofibrosis	MedlinePlus	CURATED	5
ENSP00000442788	TET2	DOID:8997	Polycythemia vera	MedlinePlus	CURATED	5
ENSP00000442793	BEAN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000442793	BEAN1	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000442795	MYBPC3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000442795	MYBPC3	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000442795	MYBPC3	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000442795	MYBPC3	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000442954	APC2	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000443827	SP7	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000443827	SP7	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000444198	CITED2	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000444198	CITED2	DOID:1882	Atrial heart septal defect	UniProtKB-KW	CURATED	4
ENSP00000444271	C1R	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000444271	C1R	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000444433	SCO2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000444433	SCO2	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000444433	SCO2	DOID:11830	Myopia	MedlinePlus	CURATED	5
ENSP00000444433	SCO2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000444433	SCO2	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000444433	SCO2	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000444533	KRT86	DOID:0050472	Monilethrix	MedlinePlus	CURATED	5
ENSP00000444586	LOXHD1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000444586	LOXHD1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000444688	ATP1A3	DOID:0050635	Alternating hemiplegia of childhood	MedlinePlus	CURATED	5
ENSP00000444688	ATP1A3	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000444688	ATP1A3	DOID:0090056	Dystonia 12	MedlinePlus	CURATED	5
ENSP00000444688	ATP1A3	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000444688	ATP1A3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000444688	ATP1A3	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000444810	FKBP5	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000445175	LDHA	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000445306	ATP1A1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000445306	ATP1A1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000445306	ATP1A1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000445306	ATP1A1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000445306	ATP1A1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000445725	RNF170	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000445725	RNF170	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000445806	TIMM50	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000445920	MMAB	DOID:14749	Methylmalonic acidemia	MedlinePlus	CURATED	5
ENSP00000446007	VIM	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000446093	TUBGCP2	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000446093	TUBGCP2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000446205	HES7	DOID:0050568	Spondylocostal dysostosis	MedlinePlus	CURATED	5
ENSP00000446479	FICD	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000446479	FICD	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000446576	ATXN2	DOID:0050955	Spinocerebellar ataxia type 2	MedlinePlus	CURATED	5
ENSP00000446576	ATXN2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000446576	ATXN2	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000446576	ATXN2	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000446576	ATXN2	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000446576	ATXN2	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000447001	RPL18	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000447149	NR1H4	DOID:0070227	Intrahepatic cholestasis of pregnancy	MedlinePlus	CURATED	5
ENSP00000447149	NR1H4	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000447211	OTOGL	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000447211	OTOGL	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000447297	TGFBR1	DOID:0050466	Loeys-Dietz syndrome	MedlinePlus	CURATED	5
ENSP00000447297	TGFBR1	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000447297	TGFBR1	DOID:14004	Thoracic aortic aneurysm	MedlinePlus	CURATED	5
ENSP00000447297	TGFBR1	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000447297	TGFBR1	DOID:3627	Aortic aneurysm	UniProtKB-KW	CURATED	4
ENSP00000448012	CEP290	DOID:0050576	Senior-Loken syndrome	MedlinePlus	CURATED	5
ENSP00000448012	CEP290	DOID:0050576	Senior-Loken syndrome	UniProtKB-KW	CURATED	4
ENSP00000448012	CEP290	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000448012	CEP290	DOID:0050778	Meckel syndrome	MedlinePlus	CURATED	5
ENSP00000448012	CEP290	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000448012	CEP290	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000448012	CEP290	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000448012	CEP290	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000448012	CEP290	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000448012	CEP290	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000448054	NUP37	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000448059	PAH	DOID:9281	Phenylketonuria	MedlinePlus	CURATED	5
ENSP00000448059	PAH	DOID:9281	Phenylketonuria	UniProtKB-KW	CURATED	4
ENSP00000448220	KRT4	DOID:0050448	White sponge nevus	MedlinePlus	CURATED	5
ENSP00000448310	BEST2	DOID:0060426	Chromosome 19p13.13 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000448419	IKZF4	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000448665	DDIT3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000449079	RDH12	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000449079	RDH12	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000449079	RDH12	DOID:14791	Leber congenital amaurosis	MedlinePlus	CURATED	5
ENSP00000449079	RDH12	DOID:14791	Leber congenital amaurosis	UniProtKB-KW	CURATED	4
ENSP00000449241	AGAP2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000449253	KCNC2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000449396	SMARCC2	DOID:1925	Coffin-Siris syndrome	MedlinePlus	CURATED	5
ENSP00000450456	RAX2	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000450456	RAX2	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000450456	RAX2	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000450456	RAX2	DOID:10871	Age related macular degeneration	UniProtKB-KW	CURATED	4
ENSP00000450527	HOPX	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000450540	SERPINA3	DOID:0070028	APP-related cerebral amyloid angiopathy	AmyCo	CURATED	4
ENSP00000450540	SERPINA3	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	AmyCo	CURATED	4
ENSP00000450540	SERPINA3	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000450540	SERPINA3	DOID:10652	Alzheimer's disease	AmyCo	CURATED	4
ENSP00000450565	IL11RA	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000450870	H0YJ60_HUMAN	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000451206	NPC2	DOID:14504	Niemann-Pick disease	MedlinePlus	CURATED	5
ENSP00000451206	NPC2	DOID:14504	Niemann-Pick disease	UniProtKB-KW	CURATED	4
ENSP00000451506	TCL1A	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000451605	MC1R	DOID:0050632	Oculocutaneous albinism	MedlinePlus	CURATED	5
ENSP00000451605	MC1R	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000451712	NDRG2	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000451818	SRP54	DOID:0060479	Shwachman-Diamond syndrome	MedlinePlus	CURATED	5
ENSP00000451828	AKT1	DOID:13482	Proteus syndrome	MedlinePlus	CURATED	5
ENSP00000451828	AKT1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000451828	AKT1	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000451828	AKT1	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000451828	AKT1	DOID:6457	Cowden syndrome	MedlinePlus	CURATED	5
ENSP00000451974	XRCC3	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000451974	XRCC3	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000452037	DNAL1	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000452037	DNAL1	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000452120	ITGA7	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000452762	ETFA	DOID:0060358	Multiple acyl-CoA dehydrogenase deficiency	MedlinePlus	CURATED	5
ENSP00000452762	ETFA	DOID:9252	Amino acid metabolic disorder	UniProtKB-KW	CURATED	4
ENSP00000452786	ITGB3	DOID:13533	Osteopetrosis	MedlinePlus	CURATED	5
ENSP00000452786	ITGB3	DOID:2219	Glanzmann's thrombasthenia	MedlinePlus	CURATED	5
ENSP00000454062	NRL	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000454062	NRL	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000454071	LDLR	DOID:13810	Familial hypercholesterolemia	MedlinePlus	CURATED	5
ENSP00000454229	CLN3	DOID:0110731	Neuronal ceroid lipofuscinosis 3	MedlinePlus	CURATED	5
ENSP00000454229	CLN3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000454229	CLN3	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000454268	MINAR2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000454804	ASIP	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000454804	ASIP	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000454852	SNUPN	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000454973	SCAPER	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000455114	HEXA	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000455114	HEXA	DOID:2368	Gangliosidosis	UniProtKB-KW	CURATED	4
ENSP00000455114	HEXA	DOID:3320	Tay-Sachs disease	MedlinePlus	CURATED	5
ENSP00000455215	ADGRG1	DOID:0080918	Polymicrogyria	MedlinePlus	CURATED	5
ENSP00000455426	ZNF423	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000455426	ZNF423	DOID:12712	Nephronophthisis	MedlinePlus	CURATED	5
ENSP00000455426	ZNF423	DOID:12712	Nephronophthisis	UniProtKB-KW	CURATED	4
ENSP00000455607	PHKG2	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000456218	EARS2	DOID:0111493	Combined oxidative phosphorylation deficiency 12	MedlinePlus	CURATED	5
ENSP00000456218	EARS2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000456226	PRRT2	DOID:0060178	Familial hemiplegic migraine	MedlinePlus	CURATED	5
ENSP00000456226	PRRT2	DOID:0090053	Episodic kinesigenic dyskinesia 1	MedlinePlus	CURATED	5
ENSP00000456226	PRRT2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000456226	PRRT2	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000456477	C15orf41	DOID:1338	Congenital dyserythropoietic anemia	MedlinePlus	CURATED	5
ENSP00000456477	C15orf41	DOID:1338	Congenital dyserythropoietic anemia	UniProtKB-KW	CURATED	4
ENSP00000456477	C15orf41	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000456500	ZNF469	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
ENSP00000456500	ZNF469	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000456609	STRA6	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000456609	STRA6	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000456609	STRA6	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000456851	BLOC1S6	DOID:3753	Hermansky-Pudlak syndrome	MedlinePlus	CURATED	5
ENSP00000456851	BLOC1S6	DOID:3753	Hermansky-Pudlak syndrome	UniProtKB-KW	CURATED	4
ENSP00000456908	CTU2	DOID:10907	Microcephaly	UniProtKB-KW	CURATED	4
ENSP00000457168	SZT2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000457230	WWOX	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000457230	WWOX	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000457230	WWOX	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000457230	WWOX	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000457539	APOBR	DOID:1936	Atherosclerosis	UniProtKB-KW	CURATED	4
ENSP00000457728	TRAPPC2L	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000458065	DUX4	DOID:11727	Facioscapulohumeral muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000458162	ACTG1	DOID:0050430	Multiple endocrine neoplasia type 2A	AmyCo	CURATED	2
ENSP00000458162	ACTG1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000458162	ACTG1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000458162	ACTG1	DOID:0050639	Primary cutaneous amyloidosis	AmyCo	CURATED	4
ENSP00000458162	ACTG1	DOID:0060229	Baraitser-Winter syndrome	MedlinePlus	CURATED	5
ENSP00000458162	ACTG1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000458162	ACTG1	DOID:2513	Basal cell carcinoma	AmyCo	CURATED	2
ENSP00000458162	ACTG1	DOID:6498	Seborrheic keratosis	AmyCo	CURATED	2
ENSP00000458162	ACTG1	DOID:7039	Borst-Jadassohn intraepidermal carcinoma	AmyCo	CURATED	2
ENSP00000458162	ACTG1	DOID:8691	Mycosis fungoides	AmyCo	CURATED	2
ENSP00000459533	LITAF	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000459533	LITAF	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000459533	LITAF	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000459533	LITAF	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000459580	SPATA22	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000460070	GTF2I	DOID:0080926	7q11.23 duplication syndrome	MedlinePlus	CURATED	5
ENSP00000460070	GTF2I	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
ENSP00000460348	PRPF8	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000460348	PRPF8	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000460380	USP6	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000460475	NLRP1	DOID:12306	Vitiligo	MedlinePlus	CURATED	5
ENSP00000461784	GOSR2	DOID:0050557	Congenital muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000461784	GOSR2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000461784	GOSR2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000462099	RASSF5	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000462298	NOTCH2NLC	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000462337	VEZF1	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000462468	YES1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000462521	TXNIP	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000463027	NCOA4	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000463051	GDF2	DOID:1270	Hereditary hemorrhagic telangiectasia	MedlinePlus	CURATED	5
ENSP00000463058	RBM8A	DOID:14699	thrombocytopenia-absent radius syndrome	MedlinePlus	CURATED	5
ENSP00000463069	RNF43	DOID:4947	Cholangiocarcinoma	MedlinePlus	CURATED	5
ENSP00000463092	MSMB	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000463151	RBP3	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000463151	RBP3	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000463245	TMEM98	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000463574	ACP6	DOID:0060411	Chromosome 1q21.1 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000463784	RPL26	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000463784	RPL26	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000464087	RNF213	DOID:13099	Moyamoya disease	MedlinePlus	CURATED	5
ENSP00000464087	RNF213	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000464087	RNF213	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000464162	GREB1L	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000464162	GREB1L	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000464317	MYH3	DOID:0090116	Spondylocarpotarsal synostosis syndrome	MedlinePlus	CURATED	5
ENSP00000464317	MYH3	DOID:0111599	Distal arthrogryposis type 2B	MedlinePlus	CURATED	5
ENSP00000464317	MYH3	DOID:0111604	Freeman-Sheldon syndrome	MedlinePlus	CURATED	5
ENSP00000464342	RPL36	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000464391	TSHZ1	DOID:0060407	Chromosome 18q deletion syndrome	MedlinePlus	CURATED	5
ENSP00000464813	RPL27	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000464813	RPL27	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000464814	COASY	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000465500	TNFRSF11A	DOID:13533	Osteopetrosis	MedlinePlus	CURATED	5
ENSP00000465500	TNFRSF11A	DOID:13533	Osteopetrosis	UniProtKB-KW	CURATED	4
ENSP00000465500	TNFRSF11A	DOID:5408	Paget's disease of bone	MedlinePlus	CURATED	5
ENSP00000465734	SLC16A2	DOID:0050631	Allan-Herndon-Dudley syndrome	MedlinePlus	CURATED	5
ENSP00000466010	RPS15	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000466090	ELANE	DOID:0050590	Severe congenital neutropenia	MedlinePlus	CURATED	5
ENSP00000466090	ELANE	DOID:5339	Cyclic hematopoiesis	MedlinePlus	CURATED	5
ENSP00000466379	GET3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000466399	RAD51D	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000466561	CEACAM16	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000466561	CEACAM16	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000466775	APOC2	AmyCo:25	Apolipoprotein C-II associated Amyloidosis	AmyCo	CURATED	4
ENSP00000466775	APOC2	DOID:1168	Familial hyperlipidemia	UniProtKB-KW	CURATED	4
ENSP00000466818	COX6B1	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000466845	GCDH	DOID:0111254	Glutaric acidemia I	MedlinePlus	CURATED	5
ENSP00000466845	GCDH	DOID:9252	Amino acid metabolic disorder	UniProtKB-KW	CURATED	4
ENSP00000466937	FHOD3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000467141	TTN	DOID:0050431	Arrhythmogenic right ventricular cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000467141	TTN	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000467141	TTN	DOID:0080307	Myofibrillar myopathy	MedlinePlus	CURATED	5
ENSP00000467141	TTN	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000467141	TTN	DOID:0081341	Congenital myopathy 5	MedlinePlus	CURATED	5
ENSP00000467141	TTN	DOID:0111078	Tibial muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000467141	TTN	DOID:0111188	Myofibrillar myopathy 9	MedlinePlus	CURATED	5
ENSP00000467141	TTN	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000467141	TTN	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000467141	TTN	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000467141	TTN	DOID:14717	Centronuclear myopathy	MedlinePlus	CURATED	5
ENSP00000467141	TTN	DOID:423	Myopathy	UniProtKB-KW	CURATED	4
ENSP00000467176	TNNT1	DOID:3191	Nemaline myopathy	MedlinePlus	CURATED	5
ENSP00000467176	TNNT1	DOID:3191	Nemaline myopathy	UniProtKB-KW	CURATED	4
ENSP00000467290	SEMA6B	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000467290	SEMA6B	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000467579	WBP2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000467661	PRCD	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000467661	PRCD	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000468002	KANK2	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000468308	FAM20A	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000468411	PSENEN	DOID:0060256	Dowling-Degos disease	MedlinePlus	CURATED	5
ENSP00000468411	PSENEN	DOID:2280	Hidradenitis suppurativa	MedlinePlus	CURATED	5
ENSP00000468592	BCAS3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000468782	ZBTB7C	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000469242	SPTBN4	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000469455	NTF4	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000469759	LRIT3	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000469759	LRIT3	DOID:0110865	Congenital stationary night blindness 1B	MedlinePlus	CURATED	5
ENSP00000469863	DYRK1B	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000469863	DYRK1B	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000469981	TAZ	DOID:0050476	Barth syndrome	MedlinePlus	CURATED	5
ENSP00000469981	TAZ	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000469981	TAZ	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000469981	TAZ	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000470152	DTNA	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000470152	DTNA	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000470248	PRICKLE3	DOID:705	Leber hereditary optic neuropathy	UniProtKB-KW	CURATED	4
ENSP00000470539	PET100	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000470539	PET100	DOID:3762	cytochrome-c oxidase deficiency disease	MedlinePlus	CURATED	5
ENSP00000470560	EMG1	DOID:0050684	Bowen-Conradi syndrome	MedlinePlus	CURATED	5
ENSP00000470801	SLC6A14	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000470972	RPS19	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000470972	RPS19	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000471851	ADAMTS10	DOID:0050475	Weill-Marchesani syndrome	MedlinePlus	CURATED	5
ENSP00000471894	HAMP	DOID:2352	Hemochromatosis	MedlinePlus	CURATED	5
ENSP00000472316	OPN1MW	DOID:13399	Color blindness	MedlinePlus	CURATED	5
ENSP00000472469	RPS28	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000472469	RPS28	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000472929	VAV1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000473091	ZNF320	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000473553	CSNK2A3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000473631	DNAJC3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000473631	DNAJC3	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000473631	DNAJC3	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000474096	TAF15	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000474253	SETD1B	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000474529	GAS2L2	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000474529	GAS2L2	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000474560	HADH	DOID:13317	Hyperinsulinemic hypoglycemia	MedlinePlus	CURATED	5
ENSP00000475939	DNAH11	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000475939	DNAH11	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000475939	DNAH11	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000476100	GTF2H5	DOID:0111866	Trichothiodystrophy	MedlinePlus	CURATED	5
ENSP00000476140	UQCC2	DOID:0111139	Mitochondrial complex III deficiency	MedlinePlus	CURATED	5
ENSP00000476145	FRK	DOID:10871	Age related macular degeneration	MedlinePlus	CURATED	5
ENSP00000476145	FRK	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000476176	SLC37A4	DOID:0081329	Glycogen storage disease I	MedlinePlus	CURATED	5
ENSP00000476176	SLC37A4	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000476176	SLC37A4	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000477141	FRRS1L	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000477341	PPM1K	DOID:9269	Maple syrup urine disease	MedlinePlus	CURATED	5
ENSP00000477437	KCNJ6	DOID:0050585	Congenital generalized lipodystrophy	UniProtKB-KW	CURATED	4
ENSP00000477455	GRIN2B	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000477455	GRIN2B	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000477587	SRD5A2	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000477587	SRD5A2	DOID:3765	Pseudohermaphroditism	UniProtKB-KW	CURATED	4
ENSP00000477713	LCK	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000477796	GCH1	DOID:0060963	dystonia, DOPA-responsive	MedlinePlus	CURATED	5
ENSP00000477796	GCH1	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000477796	GCH1	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000477796	GCH1	DOID:9281	Phenylketonuria	UniProtKB-KW	CURATED	4
ENSP00000477829	LHX1	DOID:0060404	Chromosome 17q12 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000477922	SSX2B	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000477973	STAG3	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000478059	STIM1	DOID:0060354	Stormorken syndrome	MedlinePlus	CURATED	5
ENSP00000478059	STIM1	DOID:0060888	Transient myeloproliferative syndrome	MedlinePlus	CURATED	5
ENSP00000478104	VPS13D	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000478187	CRY2	DOID:0060167	Seasonal affective disorder	MedlinePlus	CURATED	5
ENSP00000478255	ABCB1	DOID:0080665	Warfarin resistance	MedlinePlus	CURATED	5
ENSP00000478255	ABCB1	DOID:2559	Opiate dependence	MedlinePlus	CURATED	5
ENSP00000478255	ABCB1	DOID:8577	Ulcerative colitis	MedlinePlus	CURATED	5
ENSP00000478479	RAB18	DOID:0111586	Martsolf syndrome	MedlinePlus	CURATED	5
ENSP00000478561	CYP1B1	DOID:0060673	Peters anomaly	MedlinePlus	CURATED	5
ENSP00000478561	CYP1B1	DOID:10124	Corneal disease	UniProtKB-KW	CURATED	4
ENSP00000478561	CYP1B1	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000478589	TTC25	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000478672	RAG2	DOID:0060010	Omenn syndrome	MedlinePlus	CURATED	5
ENSP00000478672	RAG2	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000478683	TBC1D3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000478754	DDX6	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000478887	MYC	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000478927	YAP1	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000478927	YAP1	DOID:11612	Polycystic ovary syndrome	MedlinePlus	CURATED	5
ENSP00000478927	YAP1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000478927	YAP1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000478927	YAP1	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000479113	GABRG3	DOID:1574	Alcohol use disorder	MedlinePlus	CURATED	5
ENSP00000479130	ACSF3	DOID:0111263	Combined malonic and methylmalonic acidemia	MedlinePlus	CURATED	5
ENSP00000479488	PHB	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000479719	CYFIP2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000479745	PRSS56	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000479745	PRSS56	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000479745	PRSS56	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000479745	PRSS56	DOID:9834	Hyperopia	MedlinePlus	CURATED	5
ENSP00000479773	CFAP57	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000479816	DENND1B	DOID:2841	Asthma	UniProtKB-KW	CURATED	4
ENSP00000479910	MLLT6	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000479969	ANGPTL8	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000480050	SYN2	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000480050	SYN2	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
ENSP00000480240	LRMDA	DOID:0050632	Oculocutaneous albinism	MedlinePlus	CURATED	5
ENSP00000480279	USH1G	DOID:0050439	Usher syndrome	MedlinePlus	CURATED	5
ENSP00000480279	USH1G	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000480291	HNF1B	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000480291	HNF1B	DOID:0060404	Chromosome 17q12 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000480291	HNF1B	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000480291	HNF1B	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000480291	HNF1B	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000480489	PDZD7	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000480489	PDZD7	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000480514	TMCO1	DOID:0081072	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	MedlinePlus	CURATED	5
ENSP00000480514	TMCO1	DOID:1686	Glaucoma	UniProtKB-KW	CURATED	4
ENSP00000480538	DNAI1	DOID:0060856	Right atrial isomerism	MedlinePlus	CURATED	5
ENSP00000480538	DNAI1	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000480538	DNAI1	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000480573	ADRA2B	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000480703	SLC46A1	DOID:0111678	Hereditary folate malabsorption	MedlinePlus	CURATED	5
ENSP00000481006	PLP1	DOID:0110773	Hereditary spastic paraplegia 2	MedlinePlus	CURATED	5
ENSP00000481006	PLP1	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000481006	PLP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000481006	PLP1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000481006	PLP1	DOID:3210	Pelizaeus-Merzbacher disease	MedlinePlus	CURATED	5
ENSP00000481029	PSMC3	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000481029	PSMC3	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000481126	VPS11	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000481126	VPS11	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000481301	SLC38A3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000481321	GABRR3	DOID:5418	Schizoaffective disorder	MedlinePlus	CURATED	5
ENSP00000481465	FAM83D	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000481570	TNFAIP3	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000481570	TNFAIP3	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000481625	SLC6A6	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000481646	RPS10	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000481646	RPS10	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000481824	MFRP	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000481824	MFRP	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000481824	MFRP	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000481824	MFRP	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000481824	MFRP	DOID:9834	Hyperopia	MedlinePlus	CURATED	5
ENSP00000481956	CREB3L1	DOID:12347	Osteogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000481956	CREB3L1	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000482027	NR4A3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000482169	NEFL	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000482169	NEFL	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000482169	NEFL	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000482169	NEFL	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000482306	TTC8	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000482306	TTC8	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000482306	TTC8	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000482306	TTC8	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000482306	TTC8	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000482313	RECQL4	DOID:0050654	Baller-Gerold syndrome	MedlinePlus	CURATED	5
ENSP00000482313	RECQL4	DOID:0050774	Rapadilino syndrome	MedlinePlus	CURATED	5
ENSP00000482313	RECQL4	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000482313	RECQL4	DOID:2732	Rothmund-Thomson syndrome	MedlinePlus	CURATED	5
ENSP00000482313	RECQL4	DOID:4535	Hypotrichosis	UniProtKB-KW	CURATED	4
ENSP00000482313	RECQL4	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000482396	ALG9-2	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000482410	JRK	DOID:1825	Childhood absence epilepsy	MedlinePlus	CURATED	5
ENSP00000482437	ALG9	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000482457	PLCG2	DOID:0090064	Familial cold autoinflammatory syndrome 3	MedlinePlus	CURATED	5
ENSP00000482504	NR2E3	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000482504	NR2E3	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000482568	ORAI1	DOID:0060888	Transient myeloproliferative syndrome	MedlinePlus	CURATED	5
ENSP00000482568	ORAI1	DOID:585	Nephrolithiasis	MedlinePlus	CURATED	5
ENSP00000482609	PEX12	DOID:905	Zellweger syndrome	MedlinePlus	CURATED	5
ENSP00000482609	PEX12	DOID:905	Zellweger syndrome	UniProtKB-KW	CURATED	4
ENSP00000482609	PEX12	DOID:906	Peroxisomal disease	UniProtKB-KW	CURATED	4
ENSP00000482647	ARHGEF18	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000482753	C9orf72	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000482753	C9orf72	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000482753	C9orf72	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000482773	IDH3B	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000482773	IDH3B	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000482816	CRYAA2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000482826	NAPB	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000482968	ALMS1	DOID:0050473	Alstrom syndrome	MedlinePlus	CURATED	5
ENSP00000482968	ALMS1	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000482968	ALMS1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000482968	ALMS1	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000483110	TAC3	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000483117	ACD	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000483254	HNRNPDL	DOID:11724	limb-girdle muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000483254	HNRNPDL	DOID:11724	limb-girdle muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000483276	TMEM222	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000483364	TCTN3	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000483375	GALE	DOID:9870	Galactosemia	MedlinePlus	CURATED	5
ENSP00000483403	GHR	DOID:9521	Laron syndrome	MedlinePlus	CURATED	5
ENSP00000483469	GPR179	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000483469	GPR179	DOID:0110865	Congenital stationary night blindness 1B	MedlinePlus	CURATED	5
ENSP00000483562	SALL2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000483570	BTK	DOID:0060870	Isolated growth hormone deficiency	MedlinePlus	CURATED	5
ENSP00000483570	BTK	DOID:14179	X-linked agammaglobulinemia	MedlinePlus	CURATED	5
ENSP00000483640	MYH7B	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000483814	NPRL3	DOID:0060681	Autosomal dominant nocturnal frontal lobe epilepsy	MedlinePlus	CURATED	5
ENSP00000483814	NPRL3	DOID:0081420	Familial focal epilepsy with variable foci	MedlinePlus	CURATED	5
ENSP00000483814	NPRL3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000483825	IKBKG	DOID:0081077	Ectodermal dysplasia and immune deficiency	MedlinePlus	CURATED	5
ENSP00000483825	IKBKG	DOID:12305	Bloch-Sulzberger syndrome	MedlinePlus	CURATED	5
ENSP00000483825	IKBKG	DOID:13533	Osteopetrosis	UniProtKB-KW	CURATED	4
ENSP00000484288	LIG4	DOID:0060010	Omenn syndrome	MedlinePlus	CURATED	5
ENSP00000484288	LIG4	DOID:9538	Multiple myeloma	MedlinePlus	CURATED	5
ENSP00000484342	NEB	DOID:3191	Nemaline myopathy	MedlinePlus	CURATED	5
ENSP00000484342	NEB	DOID:3191	Nemaline myopathy	UniProtKB-KW	CURATED	4
ENSP00000484343	SERPINB6	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000484343	SERPINB6	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000484525	CTDP1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000484525	CTDP1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000484552	GJA5	DOID:0050650	Familial atrial fibrillation	MedlinePlus	CURATED	5
ENSP00000484552	GJA5	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000484552	GJA5	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000484552	GJA5	DOID:0060411	Chromosome 1q21.1 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000484552	GJA5	DOID:0111073	Progressive familial heart block	MedlinePlus	CURATED	5
ENSP00000484634	LRRC6	DOID:9562	Primary ciliary dyskinesia	UniProtKB-KW	CURATED	4
ENSP00000484687	ZNHIT3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000484687	ZNHIT3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000485010	CIITA	DOID:5812	MHC class II deficiency	MedlinePlus	CURATED	5
ENSP00000485010	CIITA	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000485478	CDHR1	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000485478	CDHR1	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000485525	ADSL	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000485582	CERS1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000485582	CERS1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000486230	SYT14	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000486291	SUGCT	DOID:6364	Migraine	MedlinePlus	CURATED	5
ENSP00000486291	SUGCT	DOID:9252	Amino acid metabolic disorder	UniProtKB-KW	CURATED	4
ENSP00000486357	PPIP5K2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000486574	UBAP1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000486574	UBAP1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000486676	TREX1	DOID:0050629	Aicardi-Goutieres syndrome	MedlinePlus	CURATED	5
ENSP00000486676	TREX1	DOID:0050629	Aicardi-Goutieres syndrome	UniProtKB-KW	CURATED	4
ENSP00000486676	TREX1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000486676	TREX1	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000486676	TREX1	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000486891	TCF7L2	DOID:11714	Gestational diabetes	MedlinePlus	CURATED	5
ENSP00000486891	TCF7L2	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000486901	MICAL1	DOID:0060748	Familial temporal lobe epilepsy 1	MedlinePlus	CURATED	5
ENSP00000487174	ZEB2	DOID:0060485	Mowat-Wilson syndrome	MedlinePlus	CURATED	5
ENSP00000487174	ZEB2	DOID:10487	Hirschsprung's disease	UniProtKB-KW	CURATED	4
ENSP00000487174	ZEB2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000487174	ZEB2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000487444	SPTAN1	DOID:11054	Urinary bladder cancer	MedlinePlus	CURATED	5
ENSP00000487444	SPTAN1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000487444	SPTAN1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000487444	SPTAN1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000487444	SPTAN1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000487785	KCNA2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000487800	TMEM132E	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000487800	TMEM132E	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000488422	CELF2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000489407	SHANK3	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000489407	SHANK3	DOID:0080354	Phelan-McDermid syndrome	MedlinePlus	CURATED	5
ENSP00000489597	PTPN11	DOID:14291	Noonan syndrome with multiple lentigines	MedlinePlus	CURATED	5
ENSP00000489597	PTPN11	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000489675	DNAH10	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000489829	CACNA1A	DOID:0050956	Spinocerebellar ataxia type 6	MedlinePlus	CURATED	5
ENSP00000489829	CACNA1A	DOID:0060178	Familial hemiplegic migraine	MedlinePlus	CURATED	5
ENSP00000489829	CACNA1A	DOID:0060426	Chromosome 19p13.13 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000489829	CACNA1A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000489829	CACNA1A	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000489829	CACNA1A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000489829	CACNA1A	DOID:963	Episodic ataxia	MedlinePlus	CURATED	5
ENSP00000489869	LMLN2	DOID:0050545	Visceral heterotaxy	UniProtKB-KW	CURATED	4
ENSP00000490083	ATP6AP2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000490083	ATP6AP2	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000490083	ATP6AP2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000490083	ATP6AP2	DOID:3144	Cutis laxa	MedlinePlus	CURATED	5
ENSP00000490083	ATP6AP2	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000490107	SCN2A	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000490107	SCN2A	DOID:0060170	Generalized epilepsy with febrile seizures plus	MedlinePlus	CURATED	5
ENSP00000490107	SCN2A	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000490107	SCN2A	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000490107	SCN2A	DOID:963	Episodic ataxia	MedlinePlus	CURATED	5
ENSP00000490491	ARID1B	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000490491	ARID1B	DOID:1925	Coffin-Siris syndrome	MedlinePlus	CURATED	5
ENSP00000490614	DCX	DOID:0050453	Lissencephaly	UniProtKB-KW	CURATED	4
ENSP00000490614	DCX	DOID:0111169	Subcortical band heterotopia	MedlinePlus	CURATED	5
ENSP00000490614	DCX	DOID:0112237	Lissencephaly 1	MedlinePlus	CURATED	5
ENSP00000490614	DCX	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000490940	ARHGEF9	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000491067	NECAP1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000491215	HNRNPU	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000491316	ST3GAL5	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000492024	PAX6	DOID:0060673	Peters anomaly	MedlinePlus	CURATED	5
ENSP00000492024	PAX6	DOID:10124	Corneal disease	UniProtKB-KW	CURATED	4
ENSP00000492024	PAX6	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000492024	PAX6	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000492024	PAX6	DOID:12271	Aniridia	MedlinePlus	CURATED	5
ENSP00000492024	PAX6	DOID:14515	WAGR syndrome	MedlinePlus	CURATED	5
ENSP00000492024	PAX6	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000492233	PIGN	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000492240	KCTD7	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000492240	KCTD7	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000492240	KCTD7	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000492260	LIAS	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000492363	PRICKLE2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000492363	PRICKLE2	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000492363	PRICKLE2	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000493153	PPT1	DOID:0110721	Neuronal ceroid lipofuscinosis 1	MedlinePlus	CURATED	5
ENSP00000493153	PPT1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000493153	PPT1	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000493218	MFSD8	DOID:0110722	Neuronal ceroid lipofuscinosis 7	MedlinePlus	CURATED	5
ENSP00000493218	MFSD8	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000493218	MFSD8	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000493252	ZFHX3	DOID:0050650	Familial atrial fibrillation	UniProtKB-KW	CURATED	4
ENSP00000493252	ZFHX3	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000493252	ZFHX3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000493252	ZFHX3	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000493302	PNPO	DOID:0111329	Pyridoxamine 5'-phosphate oxidase deficiency	MedlinePlus	CURATED	5
ENSP00000493302	PNPO	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000493382	PHGDH	DOID:0050722	PHGDH deficiency	MedlinePlus	CURATED	5
ENSP00000493536	SAMHD1	DOID:0050629	Aicardi-Goutieres syndrome	MedlinePlus	CURATED	5
ENSP00000493536	SAMHD1	DOID:0050629	Aicardi-Goutieres syndrome	UniProtKB-KW	CURATED	4
ENSP00000493560	VPS13C	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000493560	VPS13C	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000493594	MYH14	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000493594	MYH14	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000493594	MYH14	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000493712	RAD51	DOID:0111153	Congenital mirror movement disorder	MedlinePlus	CURATED	5
ENSP00000493712	RAD51	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000493712	RAD51	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000493712	RAD51	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000493823	ST3GAL3	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000493901	GIPC3	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000493906	FOXC1	DOID:0060673	Peters anomaly	MedlinePlus	CURATED	5
ENSP00000493906	FOXC1	DOID:10124	Corneal disease	UniProtKB-KW	CURATED	4
ENSP00000493906	FOXC1	DOID:14686	Axenfeld-Rieger syndrome	MedlinePlus	CURATED	5
ENSP00000493906	FOXC1	DOID:2785	Dandy-Walker syndrome	MedlinePlus	CURATED	5
ENSP00000493946	RPGRIP1L	DOID:0050777	Joubert syndrome	MedlinePlus	CURATED	5
ENSP00000493946	RPGRIP1L	DOID:0050778	Meckel syndrome	MedlinePlus	CURATED	5
ENSP00000493946	RPGRIP1L	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000493946	RPGRIP1L	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000493985	KNG1	DOID:14735	Hereditary angioedema	MedlinePlus	CURATED	5
ENSP00000494009	SLC52A3	DOID:0080632	Fazio-Londe disease	MedlinePlus	CURATED	5
ENSP00000494017	SLC26A4	DOID:0050328	Congenital hypothyroidism	MedlinePlus	CURATED	5
ENSP00000494017	SLC26A4	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000494017	SLC26A4	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000494017	SLC26A4	DOID:0060744	Pendred Syndrome	MedlinePlus	CURATED	5
ENSP00000494017	SLC26A4	DOID:7188	Autoimmune thyroiditis	MedlinePlus	CURATED	5
ENSP00000494061	MUC2	DOID:8778	Crohn's disease	MedlinePlus	CURATED	5
ENSP00000494136	SLC6A1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000494147	DSE	DOID:13359	Ehlers-Danlos syndrome	MedlinePlus	CURATED	5
ENSP00000494147	DSE	DOID:13359	Ehlers-Danlos syndrome	UniProtKB-KW	CURATED	4
ENSP00000494175	HBB	AmyCo:17	Apolipoprotein A-I associated Amyloidosis	AmyCo	CURATED	4
ENSP00000494175	HBB	DOID:0081445	Sickle cell disease	MedlinePlus	CURATED	5
ENSP00000494175	HBB	DOID:12241	Beta thalassemia	MedlinePlus	CURATED	5
ENSP00000494175	HBB	DOID:1338	Congenital dyserythropoietic anemia	UniProtKB-KW	CURATED	4
ENSP00000494175	HBB	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000494321	ABCC8	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000494321	ABCC8	DOID:0060639	Permanent neonatal diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000494321	ABCC8	DOID:13317	Hyperinsulinemic hypoglycemia	MedlinePlus	CURATED	5
ENSP00000494321	ABCC8	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000494352	KDSR	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000494352	KDSR	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000494360	SUCLA2	DOID:0080124	Mitochondrial DNA depletion syndrome 5	MedlinePlus	CURATED	5
ENSP00000494360	SUCLA2	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000494373	MTAP	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000494468	GJB6	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000494468	GJB6	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000494468	GJB6	DOID:14693	Clouston syndrome	MedlinePlus	CURATED	5
ENSP00000494468	GJB6	DOID:3390	Palmoplantar keratosis	UniProtKB-KW	CURATED	4
ENSP00000494504	THPO	DOID:2224	Essential thrombocythemia	MedlinePlus	CURATED	5
ENSP00000494538	CTCF	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000494550	MYO1F	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000494576	TMIE	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000494576	TMIE	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000494664	HK1	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000494664	HK1	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000494664	HK1	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000494664	HK1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000494664	HK1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000494664	HK1	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000494678	TBC1D24	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000494678	TBC1D24	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000494678	TBC1D24	DOID:0080439	Developmental and epileptic encephalopathy 14	MedlinePlus	CURATED	5
ENSP00000494678	TBC1D24	DOID:0111627	DOORS syndrome	MedlinePlus	CURATED	5
ENSP00000494678	TBC1D24	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000494684	TMC1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000494684	TMC1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000494686	SIX1	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000494686	SIX1	DOID:0060232	Branchiootic syndrome	MedlinePlus	CURATED	5
ENSP00000494686	SIX1	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000494689	EPS8	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000494689	EPS8	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000494750	ACTB	AmyCo:17	Apolipoprotein A-I associated Amyloidosis	AmyCo	CURATED	4
ENSP00000494750	ACTB	AmyCo:22	Apolipoprotein A-II associated Amyloidosis	AmyCo	CURATED	4
ENSP00000494750	ACTB	DOID:0050430	Multiple endocrine neoplasia type 2A	AmyCo	CURATED	2
ENSP00000494750	ACTB	DOID:0050639	Primary cutaneous amyloidosis	AmyCo	CURATED	4
ENSP00000494750	ACTB	DOID:0060229	Baraitser-Winter syndrome	MedlinePlus	CURATED	5
ENSP00000494750	ACTB	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000494750	ACTB	DOID:2513	Basal cell carcinoma	AmyCo	CURATED	2
ENSP00000494750	ACTB	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000494750	ACTB	DOID:6498	Seborrheic keratosis	AmyCo	CURATED	2
ENSP00000494750	ACTB	DOID:7039	Borst-Jadassohn intraepidermal carcinoma	AmyCo	CURATED	2
ENSP00000494750	ACTB	DOID:8691	Mycosis fungoides	AmyCo	CURATED	2
ENSP00000494788	CASK	DOID:14711	FG syndrome	MedlinePlus	CURATED	5
ENSP00000494957	UBE2T	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000494957	UBE2T	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000494965	HARS2	DOID:0050857	Perrault syndrome	MedlinePlus	CURATED	5
ENSP00000495061	PITX2	DOID:0060673	Peters anomaly	MedlinePlus	CURATED	5
ENSP00000495061	PITX2	DOID:10124	Corneal disease	UniProtKB-KW	CURATED	4
ENSP00000495061	PITX2	DOID:14686	Axenfeld-Rieger syndrome	MedlinePlus	CURATED	5
ENSP00000495202	TBCE-2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000495203	KCTD11	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000495214	SPTA1	DOID:12971	Hereditary spherocytosis	MedlinePlus	CURATED	5
ENSP00000495214	SPTA1	DOID:2373	Hereditary elliptocytosis	UniProtKB-KW	CURATED	4
ENSP00000495214	SPTA1	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000495240	CHD8	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000495247	MANBA	DOID:3633	beta-mannosidosis	MedlinePlus	CURATED	5
ENSP00000495273	RPS7	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000495273	RPS7	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000495274	AP3D1	DOID:3753	Hermansky-Pudlak syndrome	UniProtKB-KW	CURATED	4
ENSP00000495332	SLC12A1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000495332	SLC12A1	DOID:445	Bartter disease	MedlinePlus	CURATED	5
ENSP00000495332	SLC12A1	DOID:445	Bartter disease	UniProtKB-KW	CURATED	4
ENSP00000495360	CTNNB1	DOID:0050535	Exudative vitreoretinopathy	MedlinePlus	CURATED	5
ENSP00000495360	CTNNB1	DOID:0080366	Desmoid tumor	MedlinePlus	CURATED	5
ENSP00000495360	CTNNB1	DOID:2154	Nephroblastoma	MedlinePlus	CURATED	5
ENSP00000495360	CTNNB1	DOID:2394	Ovarian cancer	MedlinePlus	CURATED	5
ENSP00000495360	CTNNB1	DOID:5374	Pilomatrixoma	MedlinePlus	CURATED	5
ENSP00000495385	SLC19A3	DOID:0050659	biotin-responsive basal ganglia disease	MedlinePlus	CURATED	5
ENSP00000495385	SLC19A3	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000495481	MYO15A	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000495481	MYO15A	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000495507	SLITRK6	DOID:0111628	High myopia-sensorineural deafness syndrome	MedlinePlus	CURATED	5
ENSP00000495537	RPGR	DOID:0050572	cone-rod dystrophy	MedlinePlus	CURATED	5
ENSP00000495537	RPGR	DOID:0050572	cone-rod dystrophy	UniProtKB-KW	CURATED	4
ENSP00000495537	RPGR	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
ENSP00000495537	RPGR	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000495537	RPGR	DOID:9562	Primary ciliary dyskinesia	MedlinePlus	CURATED	5
ENSP00000495556	TBL1X	DOID:0050328	Congenital hypothyroidism	UniProtKB-KW	CURATED	4
ENSP00000495557	KCNJ10	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000495563	VPS45	DOID:0050590	Severe congenital neutropenia	MedlinePlus	CURATED	5
ENSP00000495564	GRHL2	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000495564	GRHL2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000495607	PTPRQ	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000495607	PTPRQ	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000495672	RPL35A	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000495672	RPL35A	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000495710	ACBD6	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000495710	ACBD6	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000495718	POU4F3	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000495718	POU4F3	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000495750	GSS	DOID:0080699	Glutathione synthetase deficiency	MedlinePlus	CURATED	5
ENSP00000495750	GSS	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000495778	ABHD5	DOID:0050729	Chanarin-Dorfman syndrome	MedlinePlus	CURATED	5
ENSP00000495778	ABHD5	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000495795	SPG7	DOID:0110816	Hereditary spastic paraplegia 7	MedlinePlus	CURATED	5
ENSP00000495795	SPG7	DOID:12347	Osteogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000495795	SPG7	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
ENSP00000495795	SPG7	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000495795	SPG7	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000495811	NDP	DOID:0050535	Exudative vitreoretinopathy	MedlinePlus	CURATED	5
ENSP00000495811	NDP	DOID:0060844	Norrie disease	MedlinePlus	CURATED	5
ENSP00000495811	NDP	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000495855	PJVK	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000495855	PJVK	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000495860	TRPM7	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000495860	TRPM7	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000495860	TRPM7	DOID:332	Amyotrophic lateral sclerosis	MedlinePlus	CURATED	5
ENSP00000495860	TRPM7	DOID:332	Amyotrophic lateral sclerosis	UniProtKB-KW	CURATED	4
ENSP00000495909	SPTB	DOID:12971	Hereditary spherocytosis	MedlinePlus	CURATED	5
ENSP00000495909	SPTB	DOID:2373	Hereditary elliptocytosis	UniProtKB-KW	CURATED	4
ENSP00000495909	SPTB	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000495951	KITLG	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000495951	KITLG	DOID:1909	Melanoma	MedlinePlus	CURATED	5
ENSP00000495965	MYO3A	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000495965	MYO3A	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000495996	POU3F4	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000495996	POU3F4	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000496007	SYNGAP1	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000496007	SYNGAP1	DOID:0070035	Autosomal dominant intellectual developmental disorder 5	MedlinePlus	CURATED	5
ENSP00000496044	POLR1C	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000496044	POLR1C	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000496044	POLR1C	DOID:2908	Treacher Collins syndrome	MedlinePlus	CURATED	5
ENSP00000496166	ALDOA	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000496166	ALDOA	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000496184	SLC52A2	DOID:0080632	Fazio-Londe disease	MedlinePlus	CURATED	5
ENSP00000496241	SLC33A1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000496241	SLC33A1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000496241	SLC33A1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000496250	RPL11	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000496250	RPL11	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000496255	EYA1	DOID:0060232	Branchiootic syndrome	MedlinePlus	CURATED	5
ENSP00000496255	EYA1	DOID:0080205	CAKUT	MedlinePlus	CURATED	5
ENSP00000496268	SGCE	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000496339	SLC18A2	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000496339	SLC18A2	DOID:543	Dystonia	UniProtKB-KW	CURATED	4
ENSP00000496355	TLR5	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000496355	TLR5	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000496394	TRIOBP	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000496394	TRIOBP	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000496396	AVPR2	DOID:12387	Nephrogenic diabetes insipidus	MedlinePlus	CURATED	5
ENSP00000496396	AVPR2	DOID:9409	Diabetes insipidus	UniProtKB-KW	CURATED	4
ENSP00000496414	RDX	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000496414	RDX	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000496438	S1PR2	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000496491	SEMA3E	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000496494	TPM2	DOID:0080102	Congenital myopathy 4A	MedlinePlus	CURATED	5
ENSP00000496494	TPM2	DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	MedlinePlus	CURATED	5
ENSP00000496494	TPM2	DOID:0111596	Distal arthrogryposis type 1	MedlinePlus	CURATED	5
ENSP00000496494	TPM2	DOID:0111599	Distal arthrogryposis type 2B	MedlinePlus	CURATED	5
ENSP00000496494	TPM2	DOID:3191	Nemaline myopathy	MedlinePlus	CURATED	5
ENSP00000496494	TPM2	DOID:3191	Nemaline myopathy	UniProtKB-KW	CURATED	4
ENSP00000496496	TRMU	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000496496	TRMU	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000496564	OTOA	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000496564	OTOA	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000496593	ESPN	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000496593	ESPN	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000496593	ESPN	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000496597	PFKM	DOID:11721	Glycogen storage disease VII	MedlinePlus	CURATED	5
ENSP00000496597	PFKM	DOID:2747	Glycogen storage disease	UniProtKB-KW	CURATED	4
ENSP00000496695	ATXN3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000496695	ATXN3	DOID:1440	Machado-Joseph disease	MedlinePlus	CURATED	5
ENSP00000496695	ATXN3	DOID:1441	Autosomal dominant cerebellar ataxia	UniProtKB-KW	CURATED	4
ENSP00000496731	SERAC1	DOID:0110001	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	MedlinePlus	CURATED	5
ENSP00000496731	SERAC1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000496779	LZTR1	DOID:3204	Schwannomatosis	MedlinePlus	CURATED	5
ENSP00000496779	LZTR1	DOID:3490	Noonan syndrome	MedlinePlus	CURATED	5
ENSP00000496793	COL9A3	DOID:0080046	Stickler syndrome	MedlinePlus	CURATED	5
ENSP00000496793	COL9A3	DOID:12721	Multiple epiphyseal dysplasia	MedlinePlus	CURATED	5
ENSP00000496793	COL9A3	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000496870	LRP2	DOID:0090144	Donnai-Barrow syndrome	MedlinePlus	CURATED	5
ENSP00000496870	LRP2	DOID:10283	Prostate cancer	MedlinePlus	CURATED	5
ENSP00000496870	LRP2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000496939	KCNN4	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000496942	JAGN1	DOID:0050590	Severe congenital neutropenia	MedlinePlus	CURATED	5
ENSP00000496959	ITGAM	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000496959	ITGAM	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000497008	MMAA	DOID:14749	Methylmalonic acidemia	MedlinePlus	CURATED	5
ENSP00000497069	IGF1R	DOID:90	Degenerative disc disease	MedlinePlus	CURATED	5
ENSP00000497102	CTLA4	DOID:12361	Graves' disease	MedlinePlus	CURATED	5
ENSP00000497102	CTLA4	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
ENSP00000497102	CTLA4	DOID:6688	Autoimmune lymphoproliferative syndrome	MedlinePlus	CURATED	5
ENSP00000497102	CTLA4	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000497102	CTLA4	DOID:7188	Autoimmune thyroiditis	MedlinePlus	CURATED	5
ENSP00000497102	CTLA4	DOID:9074	Systemic lupus erythematosus	MedlinePlus	CURATED	5
ENSP00000497102	CTLA4	DOID:9074	Systemic lupus erythematosus	UniProtKB-KW	CURATED	4
ENSP00000497102	CTLA4	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000497102	CTLA4	DOID:9744	Type 1 diabetes mellitus	MedlinePlus	CURATED	5
ENSP00000497102	CTLA4	DOID:986	Alopecia areata	MedlinePlus	CURATED	5
ENSP00000497110	GRM6	DOID:0050534	Congenital stationary night blindness	UniProtKB-KW	CURATED	4
ENSP00000497110	GRM6	DOID:0110865	Congenital stationary night blindness 1B	MedlinePlus	CURATED	5
ENSP00000497112	HOXA13	DOID:0060739	hand-foot-genital syndrome	MedlinePlus	CURATED	5
ENSP00000497160	EIF2B5	DOID:0060868	Leukoencephalopathy with vanishing white matter	MedlinePlus	CURATED	5
ENSP00000497160	EIF2B5	DOID:10579	Leukodystrophy	UniProtKB-KW	CURATED	4
ENSP00000497174	DYNC2H1	DOID:0050592	Asphyxiating thoracic dystrophy	MedlinePlus	CURATED	5
ENSP00000497183	CCBE1	DOID:0060366	Hennekam syndrome	MedlinePlus	CURATED	5
ENSP00000497217	FOXL2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000497217	FOXL2	DOID:14778	blepharophimosis, ptosis, and epicanthus inversus syndrome	MedlinePlus	CURATED	5
ENSP00000497217	FOXL2	DOID:5426	Primary ovarian insufficiency	UniProtKB-KW	CURATED	4
ENSP00000497221	ITM2B	DOID:0070027	CST3-related cerebral amyloid angiopathy	MedlinePlus	CURATED	5
ENSP00000497221	ITM2B	DOID:0070029	ITM2B-related cerebral amyloid angiopathy 1	AmyCo	CURATED	4
ENSP00000497221	ITM2B	DOID:0070030	ITM2B-related cerebral amyloid angiopathy 2	AmyCo	CURATED	4
ENSP00000497221	ITM2B	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000497221	ITM2B	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000497230	ENOSF1	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000497236	ALAS2	DOID:0060063	Sideroblastic anemia 1	MedlinePlus	CURATED	5
ENSP00000497236	ALAS2	DOID:13268	Porphyria	MedlinePlus	CURATED	5
ENSP00000497249	CRYBB1	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000497260	GNAI1	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000497271	IFIH1	DOID:0050629	Aicardi-Goutieres syndrome	MedlinePlus	CURATED	5
ENSP00000497271	IFIH1	DOID:0050629	Aicardi-Goutieres syndrome	UniProtKB-KW	CURATED	4
ENSP00000497271	IFIH1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000497274	ABCC2	DOID:0070227	Intrahepatic cholestasis of pregnancy	MedlinePlus	CURATED	5
ENSP00000497274	ABCC2	DOID:12308	Dubin-Johnson syndrome	MedlinePlus	CURATED	5
ENSP00000497280	AGK	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000497280	AGK	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000497294	LHB	DOID:1921	Klinefelter syndrome	UniProtKB-KW	CURATED	4
ENSP00000497310	ALX3	DOID:0081044	Frontonasal dysplasia	MedlinePlus	CURATED	5
ENSP00000497326	CPOX	DOID:13268	Porphyria	MedlinePlus	CURATED	5
ENSP00000497326	CPOX	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000497351	GAN	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000497351	GAN	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000497406	SETBP1	DOID:0070059	Autosomal dominant intellectual developmental disorder 29	MedlinePlus	CURATED	5
ENSP00000497406	SETBP1	DOID:0070509	Schinzel Giedion syndrome	MedlinePlus	CURATED	5
ENSP00000497413	BBS10	DOID:1935	Bardet-Biedl syndrome	MedlinePlus	CURATED	5
ENSP00000497413	BBS10	DOID:1935	Bardet-Biedl syndrome	UniProtKB-KW	CURATED	4
ENSP00000497413	BBS10	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000497444	LRPAP1	DOID:11830	Myopia	MedlinePlus	CURATED	5
ENSP00000497474	COX7B	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000497479	MYT1L	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000497483	DHH	DOID:14448	46,XY sex reversal	MedlinePlus	CURATED	5
ENSP00000497574	GCLC	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000497587	NDUFV1	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
ENSP00000497587	NDUFV1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000497587	NDUFV1	DOID:3652	Leigh disease	UniProtKB-KW	CURATED	4
ENSP00000497594	UBE3A	DOID:0060041	Autism spectrum disorder	MedlinePlus	CURATED	5
ENSP00000497594	UBE3A	DOID:1932	Angelman syndrome	MedlinePlus	CURATED	5
ENSP00000497642	LPL	DOID:1168	Familial hyperlipidemia	UniProtKB-KW	CURATED	4
ENSP00000497642	LPL	DOID:14118	Familial lipoprotein lipase deficiency	MedlinePlus	CURATED	5
ENSP00000497653	COL17A1	DOID:2730	Epidermolysis bullosa	UniProtKB-KW	CURATED	4
ENSP00000497653	COL17A1	DOID:3209	Junctional epidermolysis bullosa	MedlinePlus	CURATED	5
ENSP00000497669	COG8	DOID:5212	Congenital disorder of glycosylation	UniProtKB-KW	CURATED	4
ENSP00000497733	CDC42	DOID:0060410	Chromosome 1p36 deletion syndrome	MedlinePlus	CURATED	5
ENSP00000497759	FOXC2	DOID:0111509	lymphedema-distichiasis syndrome	MedlinePlus	CURATED	5
ENSP00000497767	ALDOB	DOID:5204	fructose-1,6-bisphosphatase deficiency	MedlinePlus	CURATED	5
ENSP00000497777	EPB42	DOID:12971	Hereditary spherocytosis	MedlinePlus	CURATED	5
ENSP00000497777	EPB42	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000497784	ALOX12B	DOID:0060655	Autosomal recessive congenital ichthyosis	MedlinePlus	CURATED	5
ENSP00000497810	MAGEL2	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000497815	AP5Z1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000497815	AP5Z1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000497829	CHRNE	DOID:3635	Congenital myasthenic syndrome	MedlinePlus	CURATED	5
ENSP00000497829	CHRNE	DOID:3635	Congenital myasthenic syndrome	UniProtKB-KW	CURATED	4
ENSP00000497896	ATP8B1	DOID:0070221	Progressive familial intrahepatic cholestasis	MedlinePlus	CURATED	5
ENSP00000497896	ATP8B1	DOID:0070227	Intrahepatic cholestasis of pregnancy	MedlinePlus	CURATED	5
ENSP00000497896	ATP8B1	DOID:0070230	Benign recurrent intrahepatic cholestasis	MedlinePlus	CURATED	5
ENSP00000497896	ATP8B1	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000497910	B2M	AmyCo:33	Wild type beta-2-microglobulin-related Amyloidosis	AmyCo	CURATED	4
ENSP00000497910	B2M	AmyCo:75	Hereditary beta-2-microglobulin-related Amyloidosis	AmyCo	CURATED	4
ENSP00000497910	B2M	DOID:0050747	DOID:0050747	AmyCo	CURATED	4
ENSP00000497910	B2M	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000497915	IL21	DOID:12177	Common variable immunodeficiency	MedlinePlus	CURATED	5
ENSP00000497931	ABCB11	DOID:0070221	Progressive familial intrahepatic cholestasis	MedlinePlus	CURATED	5
ENSP00000497931	ABCB11	DOID:0070227	Intrahepatic cholestasis of pregnancy	MedlinePlus	CURATED	5
ENSP00000497931	ABCB11	DOID:0070230	Benign recurrent intrahepatic cholestasis	MedlinePlus	CURATED	5
ENSP00000497931	ABCB11	DOID:1852	Intrahepatic cholestasis	UniProtKB-KW	CURATED	4
ENSP00000497968	IL17A	DOID:7147	Ankylosing spondylitis	MedlinePlus	CURATED	5
ENSP00000498019	RPS17	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000498019	RPS17	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000498042	DCLRE1B	DOID:2729	Dyskeratosis congenita	UniProtKB-KW	CURATED	4
ENSP00000498071	CARD14	DOID:9008	Psoriatic arthritis	MedlinePlus	CURATED	5
ENSP00000498074	ENPP1	DOID:0050336	Hypophosphatemia	MedlinePlus	CURATED	5
ENSP00000498074	ENPP1	DOID:0050644	Arterial calcification of infancy	MedlinePlus	CURATED	5
ENSP00000498074	ENPP1	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000498074	ENPP1	DOID:9970	Obesity	UniProtKB-KW	CURATED	4
ENSP00000498104	BCL10	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000498190	HESX1	DOID:0060857	Septooptic dysplasia	MedlinePlus	CURATED	5
ENSP00000498190	HESX1	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000498198	KCNK9	DOID:0050675	Birk-Barel syndrome	MedlinePlus	CURATED	5
ENSP00000498215	FANCB	DOID:13636	Fanconi anemia	MedlinePlus	CURATED	5
ENSP00000498215	FANCB	DOID:13636	Fanconi anemia	UniProtKB-KW	CURATED	4
ENSP00000498217	ALX4	DOID:0060285	Parietal foramina	MedlinePlus	CURATED	5
ENSP00000498217	ALX4	DOID:0081044	Frontonasal dysplasia	MedlinePlus	CURATED	5
ENSP00000498217	ALX4	DOID:0111687	Potocki-Shaffer syndrome	MedlinePlus	CURATED	5
ENSP00000498217	ALX4	DOID:2340	Craniosynostosis	UniProtKB-KW	CURATED	4
ENSP00000498246	ABCG2	DOID:13189	Gout	MedlinePlus	CURATED	5
ENSP00000498282	BSND	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000498282	BSND	DOID:445	Bartter disease	MedlinePlus	CURATED	5
ENSP00000498282	BSND	DOID:445	Bartter disease	UniProtKB-KW	CURATED	4
ENSP00000498321	MYD88	DOID:0060901	Lymphoplasmacytic lymphoma	MedlinePlus	CURATED	5
ENSP00000498322	LHFPL5	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000498322	LHFPL5	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000498358	FECH	DOID:13268	Porphyria	MedlinePlus	CURATED	5
ENSP00000498362	PQBP1	DOID:0060179	Renpenning syndrome	MedlinePlus	CURATED	5
ENSP00000498362	PQBP1	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000498362	PQBP1	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000498382	DEPDC5	DOID:0060681	Autosomal dominant nocturnal frontal lobe epilepsy	MedlinePlus	CURATED	5
ENSP00000498382	DEPDC5	DOID:0060748	Familial temporal lobe epilepsy 1	MedlinePlus	CURATED	5
ENSP00000498382	DEPDC5	DOID:0081420	Familial focal epilepsy with variable foci	MedlinePlus	CURATED	5
ENSP00000498382	DEPDC5	DOID:0090053	Episodic kinesigenic dyskinesia 1	MedlinePlus	CURATED	5
ENSP00000498382	DEPDC5	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000498441	FGA	AmyCo:19	Hereditary fibrinogen A alpha-chain Amyloidosis	AmyCo	CURATED	4
ENSP00000498441	FGA	DOID:2236	Congenital afibrinogenemia	MedlinePlus	CURATED	5
ENSP00000498441	FGA	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000498466	FAS	DOID:6688	Autoimmune lymphoproliferative syndrome	MedlinePlus	CURATED	5
ENSP00000498466	FAS	DOID:676	Juvenile rheumatoid arthritis	MedlinePlus	CURATED	5
ENSP00000498499	CTC1	DOID:2729	Dyskeratosis congenita	MedlinePlus	CURATED	5
ENSP00000498577	TPM3	DOID:0080102	Congenital myopathy 4A	MedlinePlus	CURATED	5
ENSP00000498577	TPM3	DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome	MedlinePlus	CURATED	5
ENSP00000498577	TPM3	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000498577	TPM3	DOID:3191	Nemaline myopathy	MedlinePlus	CURATED	5
ENSP00000498577	TPM3	DOID:3191	Nemaline myopathy	UniProtKB-KW	CURATED	4
ENSP00000498587	NOTCH1	DOID:0060227	Adams-Oliver syndrome	MedlinePlus	CURATED	5
ENSP00000498587	NOTCH1	DOID:5520	Head and neck squamous cell carcinoma	MedlinePlus	CURATED	5
ENSP00000498596	STING1	DOID:0111457	STING-associated vasculopathy with onset in infancy	MedlinePlus	CURATED	5
ENSP00000498622	MIP	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000498630	IL31RA	DOID:0050639	Primary cutaneous amyloidosis	MedlinePlus	CURATED	5
ENSP00000498630	IL31RA	DOID:9120	Amyloidosis	UniProtKB-KW	CURATED	4
ENSP00000498653	DEK	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000498656	PWWP3A	DOID:9538	Multiple myeloma	MedlinePlus	CURATED	5
ENSP00000498671	MRTFA	DOID:162	Cancer	UniProtKB-KW	CURATED	4
ENSP00000498684	FHL1	DOID:11726	Emery-Dreifuss muscular dystrophy	MedlinePlus	CURATED	5
ENSP00000498684	FHL1	DOID:11726	Emery-Dreifuss muscular dystrophy	UniProtKB-KW	CURATED	4
ENSP00000498702	GPR68	DOID:2187	Amelogenesis imperfecta	UniProtKB-KW	CURATED	4
ENSP00000498757	CHRNG	DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome	MedlinePlus	CURATED	5
ENSP00000498766	DSPP	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000498766	DSPP	DOID:4154	Dentinogenesis imperfecta	MedlinePlus	CURATED	5
ENSP00000498772	CLN5	DOID:0110728	Neuronal ceroid lipofuscinosis 5	MedlinePlus	CURATED	5
ENSP00000498772	CLN5	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000498772	CLN5	DOID:14503	Neuronal ceroid lipofuscinosis	UniProtKB-KW	CURATED	4
ENSP00000498772	CLN5	DOID:1826	Epilepsy	UniProtKB-KW	CURATED	4
ENSP00000498786	HMBS	DOID:13268	Porphyria	MedlinePlus	CURATED	5
ENSP00000498864	PDK3	DOID:10595	Charcot-Marie-Tooth disease	MedlinePlus	CURATED	5
ENSP00000498864	PDK3	DOID:10595	Charcot-Marie-Tooth disease	UniProtKB-KW	CURATED	4
ENSP00000498864	PDK3	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000498864	PDK3	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000498867	LARS2	DOID:0050857	Perrault syndrome	MedlinePlus	CURATED	5
ENSP00000498879	CD59	DOID:589	Congenital hemolytic anemia	UniProtKB-KW	CURATED	4
ENSP00000498881	ERCC5	DOID:0050427	Xeroderma pigmentosum	MedlinePlus	CURATED	5
ENSP00000498881	ERCC5	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000498881	ERCC5	DOID:2962	Cockayne syndrome	UniProtKB-KW	CURATED	4
ENSP00000498888	PANK4	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000498905	CRYBB2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000498905	CRYBB2	DOID:83	Cataract	UniProtKB-KW	CURATED	4
ENSP00000498972	GPR101	DOID:0112238	X-linked lissencephaly 2	MedlinePlus	CURATED	5
ENSP00000498994	PC	DOID:3651	Pyruvate carboxylase deficiency disease	MedlinePlus	CURATED	5
ENSP00000499044	RPS27	DOID:1339	Diamond-Blackfan anemia	MedlinePlus	CURATED	5
ENSP00000499044	RPS27	DOID:1339	Diamond-Blackfan anemia	UniProtKB-KW	CURATED	4
ENSP00000499058	DIABLO	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
ENSP00000499058	DIABLO	DOID:0050563	Nonsyndromic deafness	UniProtKB-KW	CURATED	4
ENSP00000499074	IVD	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
ENSP00000499074	IVD	DOID:14753	Isovaleric acidemia	MedlinePlus	CURATED	5
ENSP00000499241	SLMAP	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000499300	KCNJ8	DOID:0050451	Brugada syndrome	MedlinePlus	CURATED	5
ENSP00000499406	MYL3	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000499406	MYL3	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000499465	AMPD2	DOID:0060264	Pontocerebellar hypoplasia	MedlinePlus	CURATED	5
ENSP00000499465	AMPD2	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000499465	AMPD2	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000499569	SCN11A	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000499569	SCN11A	DOID:870	Neuropathy	UniProtKB-KW	CURATED	4
ENSP00000499582	MANF	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000499593	TNNT2	DOID:0050700	Cardiomyopathy	UniProtKB-KW	CURATED	4
ENSP00000499593	TNNT2	DOID:0060480	Left ventricular noncompaction	MedlinePlus	CURATED	5
ENSP00000499593	TNNT2	DOID:0080326	Familial hypertrophic cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000499593	TNNT2	DOID:12930	Dilated cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000499593	TNNT2	DOID:397	Restrictive cardiomyopathy	MedlinePlus	CURATED	5
ENSP00000499655	ARHGEF18-2	DOID:10584	Retinitis pigmentosa	UniProtKB-KW	CURATED	4
ENSP00000499695	UCP2	DOID:13317	Hyperinsulinemic hypoglycemia	MedlinePlus	CURATED	5
ENSP00000499717	CALM1	DOID:0060674	Catecholaminergic polymorphic ventricular tachycardia	MedlinePlus	CURATED	5
ENSP00000499717	CALM1	DOID:2843	Long QT syndrome	MedlinePlus	CURATED	5
ENSP00000499717	CALM1	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000499797	CALM2	DOID:0060674	Catecholaminergic polymorphic ventricular tachycardia	MedlinePlus	CURATED	5
ENSP00000499797	CALM2	DOID:2843	Long QT syndrome	MedlinePlus	CURATED	5
ENSP00000499797	CALM2	DOID:2843	Long QT syndrome	UniProtKB-KW	CURATED	4
ENSP00000499935	AK2	DOID:627	Severe combined immunodeficiency	UniProtKB-KW	CURATED	4
ENSP00000500193	BTD	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
ENSP00000500193	BTD	DOID:856	Biotinidase deficiency	MedlinePlus	CURATED	5
ENSP00000500220	ARSL	DOID:0060292	X-linked chondrodysplasia punctata 1	MedlinePlus	CURATED	5
ENSP00000500595	OTX2	DOID:0060857	Septooptic dysplasia	MedlinePlus	CURATED	5
ENSP00000500595	OTX2	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000500595	OTX2	DOID:10629	Microphthalmia	UniProtKB-KW	CURATED	4
ENSP00000500595	OTX2	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000500595	OTX2	DOID:9410	Panhypopituitarism	MedlinePlus	CURATED	5
ENSP00000500891	MUTYH	DOID:0080410	Familial adenomatous polyposis 2	MedlinePlus	CURATED	5
ENSP00000500986	DDHD1	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000500986	DDHD1	DOID:2476	Hereditary spastic paraplegia	UniProtKB-KW	CURATED	4
ENSP00000500990	SNCA	DOID:10652	Alzheimer's disease	UniProtKB-KW	CURATED	4
ENSP00000500990	SNCA	DOID:12217	Lewy body dementia	AmyCo	CURATED	4
ENSP00000500990	SNCA	DOID:12217	Lewy body dementia	MedlinePlus	CURATED	5
ENSP00000500990	SNCA	DOID:1289	Neurodegenerative disease	UniProtKB-KW	CURATED	4
ENSP00000500990	SNCA	DOID:14330	Parkinson's disease	AmyCo	CURATED	4
ENSP00000500990	SNCA	DOID:14330	Parkinson's disease	MedlinePlus	CURATED	5
ENSP00000500990	SNCA	DOID:14330	Parkinson's disease	UniProtKB-KW	CURATED	4
ENSP00000500990	SNCA	DOID:4752	Multiple system atrophy	MedlinePlus	CURATED	5
ENSP00000501092	TFAP2A	DOID:0050691	Branchiooculofacial syndrome	MedlinePlus	CURATED	5
ENSP00000501092	TFAP2A	DOID:10629	Microphthalmia	MedlinePlus	CURATED	5
ENSP00000501092	TFAP2A	DOID:12270	Coloboma	MedlinePlus	CURATED	5
ENSP00000501111	CEL	DOID:0050524	maturity-onset diabetes of the young	MedlinePlus	CURATED	5
ENSP00000501111	CEL	DOID:9351	Diabetes mellitus	UniProtKB-KW	CURATED	4
ENSP00000501180	MAS1	DOID:162	Cancer	UniProtKB-KW	CURATED	4
H19	H19	DOID:14681	Silver-Russell syndrome	MedlinePlus	CURATED	5
H19	H19	DOID:1612	Breast cancer	MedlinePlus	CURATED	5
H19	H19	DOID:2154	Nephroblastoma	MedlinePlus	CURATED	5
H19	H19	DOID:5572	Beckwith-Wiedemann syndrome	MedlinePlus	CURATED	5
KCNQ1OT1	KCNQ1OT1	DOID:5572	Beckwith-Wiedemann syndrome	MedlinePlus	CURATED	5
MIR17HG	MIR17HG	DOID:0060464	Feingold syndrome	MedlinePlus	CURATED	5
MT-RNR1	MT-RNR1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
MT-TF	MT-TF	DOID:310	MERRF syndrome	MedlinePlus	CURATED	5
MT-TH	MT-TH	DOID:310	MERRF syndrome	MedlinePlus	CURATED	5
MT-TH	MT-TH	DOID:3687	MELAS syndrome	MedlinePlus	CURATED	5
MT-TI	MT-TI	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
MT-TI	MT-TI	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
MT-TK	MT-TK	DOID:310	MERRF syndrome	MedlinePlus	CURATED	5
MT-TK	MT-TK	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
MT-TL1	MT-TL1	DOID:0060536	Mitochondrial complex I deficiency	MedlinePlus	CURATED	5
MT-TL1	MT-TL1	DOID:12558	Chronic progressive external ophthalmoplegia	MedlinePlus	CURATED	5
MT-TL1	MT-TL1	DOID:310	MERRF syndrome	MedlinePlus	CURATED	5
MT-TL1	MT-TL1	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
MT-TL1	MT-TL1	DOID:3687	MELAS syndrome	MedlinePlus	CURATED	5
MT-TP	MT-TP	DOID:310	MERRF syndrome	MedlinePlus	CURATED	5
MT-TS1	MT-TS1	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5
MT-TS1	MT-TS1	DOID:0111505	Palmoplantar keratoderma-deafness syndrome	MedlinePlus	CURATED	5
MT-TS1	MT-TS1	DOID:310	MERRF syndrome	MedlinePlus	CURATED	5
MT-TS2	MT-TS2	DOID:10584	Retinitis pigmentosa	MedlinePlus	CURATED	5
MT-TS2	MT-TS2	DOID:310	MERRF syndrome	MedlinePlus	CURATED	5
MT-TT	MT-TT	DOID:310	MERRF syndrome	MedlinePlus	CURATED	5
MT-TV	MT-TV	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
MT-TV	MT-TV	DOID:3687	MELAS syndrome	MedlinePlus	CURATED	5
MT-TW	MT-TW	DOID:3652	Leigh disease	MedlinePlus	CURATED	5
RMRP	RMRP	DOID:0080942	Anauxetic dysplasia	MedlinePlus	CURATED	5
RMRP	RMRP	DOID:14773	cartilage-hair hypoplasia	MedlinePlus	CURATED	5
TERC	TERC	DOID:0060941	Interstitial lung disease 1	MedlinePlus	CURATED	5
TERC	TERC	DOID:2729	Dyskeratosis congenita	MedlinePlus	CURATED	5
U7	U7	DOID:0050629	Aicardi-Goutieres syndrome	MedlinePlus	CURATED	5
hsa-miR-137	hsa-miR-137	DOID:5419	Schizophrenia	MedlinePlus	CURATED	5
hsa-miR-145-5p	hsa-miR-145-5p	DOID:0090016	Chromosome 5q deletion syndrome	MedlinePlus	CURATED	5
hsa-miR-146a-5p	hsa-miR-146a-5p	DOID:0090016	Chromosome 5q deletion syndrome	MedlinePlus	CURATED	5
hsa-miR-184	hsa-miR-184	DOID:10126	Keratoconus	MedlinePlus	CURATED	5
hsa-miR-590-5p	hsa-miR-590-5p	DOID:1928	Williams-Beuren syndrome	MedlinePlus	CURATED	5
hsa-miR-96-5p	hsa-miR-96-5p	DOID:0050563	Nonsyndromic deafness	MedlinePlus	CURATED	5