LIMA1_HUMAN LIM domain and actin-binding protein 1 (sprot)


SL9A9_HUMAN Sodium/hydrogen exchanger 9 (sprot)


AGRF1_HUMAN Adhesion G-protein coupled receptor F1 (sprot)


PRPF3_HUMAN U4/U6 small nuclear ribonucleoprotein Prp3 (sprot)


SNIP1_HUMAN Smad nuclear-interacting protein 1 (sprot)


OX2R_HUMAN Orexin receptor type 2 (sprot)


PHOCN_HUMAN MOB-like protein phocein (sprot)


ZFY26_HUMAN Zinc finger FYVE domain-containing protein 26 (sprot)


TIFAB_HUMAN TRAF-interacting protein with FHA domain-containing protein B (sprot)


BHMT2_HUMAN S-methylmethionine--homocysteine S-methyltransferase BHMT2 (sprot)


congenital anomaly of cardiovascular system


I17RB_HUMAN Interleukin-17 receptor B (sprot)


AGRL3_HUMAN Adhesion G protein-coupled receptor L3 (sprot)


K1H1_HUMAN Keratin, type I cuticular Ha1 (sprot)


OGFD1_HUMAN Prolyl 3-hydroxylase OGFOD1 (sprot)


ASTE1_HUMAN Protein asteroid homolog 1 (sprot)


EGR2_HUMAN E3 SUMO-protein ligase EGR2 (sprot)


ASGR2_HUMAN Asialoglycoprotein receptor 2 (sprot)


S39AB_HUMAN Zinc transporter ZIP11 (sprot)


OSBL1_HUMAN Oxysterol-binding protein-related protein 1 (sprot)


CRFM7_HUMAN CHRNA7-FAM7A fusion protein (sprot)


S19A2_HUMAN Thiamine transporter 1 (sprot)


GOPC_HUMAN Golgi-associated PDZ and coiled-coil motif-containing protein (sprot)


LURA1_HUMAN Leucine rich adaptor protein 1 (sprot)


CPXCR_HUMAN CPX chromosomal region candidate gene 1 protein (sprot)


LICH_HUMAN Lysosomal acid lipase/cholesteryl ester hydrolase (sprot)


LST8_HUMAN Target of rapamycin complex subunit LST8 (sprot)


PRIC2_HUMAN Prickle-like protein 2 (sprot)


MKKS_HUMAN Molecular chaperone MKKS (sprot)


EFCB6_HUMAN EF-hand calcium-binding domain-containing protein 6 (sprot)


GOGA4_HUMAN Golgin subfamily A member 4 (sprot)


PP12C_HUMAN Protein phosphatase 1 regulatory subunit 12C (sprot)


VAMP5_HUMAN Vesicle-associated membrane protein 5 (sprot)


ZN106_HUMAN Zinc finger protein 106 (sprot)


THS7A_HUMAN Thrombospondin type-1 domain-containing protein 7A (sprot)


LDHD_HUMAN Probable D-lactate dehydrogenase, mitochondrial (sprot)


CLC1A_HUMAN C-type lectin domain family 1 member A (sprot)


DPYL2_HUMAN Dihydropyrimidinase-related protein 2 (sprot)


KHDC3_HUMAN KH domain-containing protein 3 (sprot)


MSD2_HUMAN Myb/SANT-like DNA-binding domain-containing protein 2 (sprot)


GAK1B_HUMAN Golgi-associated kinase 1B (sprot)


TIKI1_HUMAN Metalloprotease TIKI1 (sprot)


FBX43_HUMAN F-box only protein 43 (sprot)


ARGL1_HUMAN Arginine and glutamate-rich protein 1 (sprot)


MDHC_HUMAN Malate dehydrogenase, cytoplasmic (sprot)


GLP3L_HUMAN Golgi phosphoprotein 3-like (sprot)


APLP1_HUMAN Amyloid beta precursor like protein 1 (sprot)


IL36G_HUMAN Interleukin-36 gamma (sprot)


SDHA_HUMAN Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial (sprot)


NCOA2_HUMAN Nuclear receptor coactivator 2 (sprot)


RCBT2_HUMAN RCC1 and BTB domain-containing protein 2 (sprot)


FIGLA_HUMAN Factor in the germline alpha (sprot)


ACL7A_HUMAN Actin-like protein 7A (sprot)


GAS7_HUMAN Growth arrest-specific protein 7 (sprot)


K2C6B_HUMAN Keratin, type II cytoskeletal 6B (sprot)


RIPK3_HUMAN Receptor-interacting serine/threonine-protein kinase 3 (sprot)


MED27_HUMAN Mediator of RNA polymerase II transcription subunit 27 (sprot)


AT5F1_HUMAN ATP synthase F(0) complex subunit B1, mitochondrial (sprot)


SRRM3_HUMAN Serine/arginine repetitive matrix protein 3 (sprot)


FHL3_HUMAN Four and a half LIM domains protein 3 (sprot)


UNC79_HUMAN Protein unc-79 homolog (sprot)


RENT1_HUMAN Regulator of nonsense transcripts 1 (sprot)


PRAF2_HUMAN PRA1 family protein 2 (sprot)


PGRP2_HUMAN N-acetylmuramoyl-L-alanine amidase (sprot)


IMPG2_HUMAN Interphotoreceptor matrix proteoglycan 2 (sprot)


NUDC3_HUMAN NudC domain-containing protein 3 (sprot)


autosomal recessive nonsyndromic hearing loss 4


TRAC_HUMAN T cell receptor alpha chain constant (sprot)


EXC6B_HUMAN Exocyst complex component 6B (sprot)


HSF1_HUMAN Heat shock factor protein 1 (sprot)


PAQR4_HUMAN Progestin and adipoQ receptor family member 4 (sprot)


MTDC_HUMAN Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial (sprot)


CTCF_HUMAN Transcriptional repressor CTCF (sprot)


MCHR2_HUMAN Melanin-concentrating hormone receptor 2 (sprot)


MGT5B_HUMAN Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B (sprot)


MIXL1_HUMAN Homeobox protein MIXL1 (sprot)


TSR1_HUMAN Pre-rRNA-processing protein TSR1 homolog (sprot)


FHR3_HUMAN Complement factor H-related protein 3 (sprot)


QRIC2_HUMAN Glutamine-rich protein 2 (sprot)


RING2_HUMAN E3 ubiquitin-protein ligase RING2 (sprot)


GGPPS_HUMAN Geranylgeranyl pyrophosphate synthase (sprot)


ALG12_HUMAN Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase (sprot)


PCP_HUMAN Lysosomal Pro-X carboxypeptidase (sprot)


NKD1_HUMAN Protein naked cuticle homolog 1 (sprot)


axonal hereditary motor and sensory neuropathy


ZIC3_HUMAN Zinc finger protein ZIC 3 (sprot)


PPIH_HUMAN Peptidyl-prolyl cis-trans isomerase H (sprot)


FGFP2_HUMAN Fibroblast growth factor-binding protein 2 (sprot)


S38A7_HUMAN Putative sodium-coupled neutral amino acid transporter 7 (sprot)


STRA6_HUMAN Receptor for retinol uptake STRA6 (sprot)


AT1A4_HUMAN Sodium/potassium-transporting ATPase subunit alpha-4 (sprot)


GP119_HUMAN Glucose-dependent insulinotropic receptor (sprot)


DLG4_HUMAN Disks large homolog 4 (sprot)


RIBC2_HUMAN RIB43A-like with coiled-coils protein 2 (sprot)


DUS19_HUMAN Dual specificity protein phosphatase 19 (sprot)


CSTF3_HUMAN Cleavage stimulation factor subunit 3 (sprot)


JADE2_HUMAN E3 ubiquitin-protein ligase Jade-2 (sprot)


NUDT7_HUMAN Peroxisomal coenzyme A diphosphatase NUDT7 (sprot)


FADS6_HUMAN Fatty acid desaturase 6 (sprot)


GLT11_HUMAN Polypeptide N-acetylgalactosaminyltransferase 11 (sprot)


DNSL1_HUMAN Deoxyribonuclease-1-like 1 (sprot)


HNMT_HUMAN Histamine N-methyltransferase (sprot)


autoimmune lymphoproliferative syndrome type 2B


RS23_HUMAN 40S ribosomal protein S23 (sprot)


KLH31_HUMAN Kelch-like protein 31 (sprot)


NHLC2_HUMAN NHL repeat-containing protein 2 (sprot)


HTRA4_HUMAN Serine protease HTRA4 (sprot)


PARPT_HUMAN Protein mono-ADP-ribosyltransferase TIPARP (sprot)


ZCCHV_HUMAN Zinc finger CCCH-type antiviral protein 1 (sprot)


ZH11B_HUMAN Probable palmitoyltransferase ZDHHC11B (sprot)


PTN4_HUMAN Tyrosine-protein phosphatase non-receptor type 4 (sprot)


IDH3B_HUMAN Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial (sprot)


TX101_HUMAN Testis-expressed protein 101 (sprot)


DCA12_HUMAN DDB1- and CUL4-associated factor 12 (sprot)


CHSTE_HUMAN Carbohydrate sulfotransferase 14 (sprot)


RHOD_HUMAN Rho-related GTP-binding protein RhoD (sprot)


TBCD_HUMAN Tubulin-specific chaperone D (sprot)


RYBP_HUMAN RING1 and YY1-binding protein (sprot)


MYLIP_HUMAN E3 ubiquitin-protein ligase MYLIP (sprot)


CAPS2_HUMAN Calcium-dependent secretion activator 2 (sprot)


TRI54_HUMAN Tripartite motif-containing protein 54 (sprot)


SKOR2_HUMAN SKI family transcriptional corepressor 2 (sprot)


DSPP_HUMAN Dentin sialophosphoprotein (sprot)


MBNL1_HUMAN Muscleblind-like protein 1 (sprot)


autosomal dominant pure spastic paraplegia


ASIP_HUMAN Agouti-signaling protein (sprot)


ASF1B_HUMAN Histone chaperone ASF1B (sprot)


ARRD2_HUMAN Arrestin domain-containing protein 2 (sprot)


MYO9A_HUMAN Unconventional myosin-IXa (sprot)


DFFA_HUMAN DNA fragmentation factor subunit alpha (sprot)


WDR3_HUMAN WD repeat-containing protein 3 (sprot)


HDAC7_HUMAN Histone deacetylase 7 (sprot)


CP27A_HUMAN Sterol 26-hydroxylase, mitochondrial (sprot)


TTLL1_HUMAN Polyglutamylase complex subunit TTLL1 (sprot)


PK3C3_HUMAN Phosphatidylinositol 3-kinase catalytic subunit type 3 (sprot)


blepharophimosis - intellectual disability syndrome, Ohdo type


CENPC_HUMAN Centromere protein C (sprot)


SND1_HUMAN Staphylococcal nuclease domain-containing protein 1 (sprot)


KCTD2_HUMAN BTB/POZ domain-containing protein KCTD2 (sprot)


GMEB2_HUMAN Glucocorticoid modulatory element-binding protein 2 (sprot)


TRAF6_HUMAN TNF receptor-associated factor 6 (sprot)


TMPS7_HUMAN Transmembrane protease serine 7 (sprot)


ATF6A_HUMAN Cyclic AMP-dependent transcription factor ATF-6 alpha (sprot)


CXCR2_HUMAN C-X-C chemokine receptor type 2 (sprot)


MIC19_HUMAN MICOS complex subunit MIC19 (sprot)


MMP27_HUMAN Matrix metalloproteinase-27 (sprot)


PAI1_HUMAN Plasminogen activator inhibitor 1 (sprot)


TP8L1_HUMAN Tumor necrosis factor alpha-induced protein 8-like protein 1 (sprot)


RAB14_HUMAN Ras-related protein Rab-14 (sprot)


DJC13_HUMAN DnaJ homolog subfamily C member 13 (sprot)


KI13B_HUMAN Kinesin-like protein KIF13B (sprot)


KS6B2_HUMAN Ribosomal protein S6 kinase beta-2 (sprot)


RARG_HUMAN Retinoic acid receptor gamma (sprot)


ASB9_HUMAN Ankyrin repeat and SOCS box protein 9 (sprot)


hypereosinophilia of undetermined significance


PEBB_HUMAN Core-binding factor subunit beta (sprot)


FEZ1_HUMAN Fasciculation and elongation protein zeta-1 (sprot)


RPAP2_HUMAN Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 (sprot)


ECHD1_HUMAN Ethylmalonyl-CoA decarboxylase (sprot)


primary cutaneous marginal zone B-cell lymphoma


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency


OLIG3_HUMAN Oligodendrocyte transcription factor 3 (sprot)


AKT1_HUMAN RAC-alpha serine/threonine-protein kinase (sprot)


LDHB_HUMAN L-lactate dehydrogenase B chain (sprot)


NRIP2_HUMAN Nuclear receptor-interacting protein 2 (sprot)


HS2ST_HUMAN Heparan sulfate 2-O-sulfotransferase 1 (sprot)


SUPT3_HUMAN Transcription initiation protein SPT3 homolog (sprot)


normophosphatemic familial tumoral calcinosis


RNF4_HUMAN E3 ubiquitin-protein ligase RNF4 (sprot)


BRD7_HUMAN Bromodomain-containing protein 7 (sprot)


S29A4_HUMAN Equilibrative nucleoside transporter 4 (sprot)


HNRL2_HUMAN Heterogeneous nuclear ribonucleoprotein U-like protein 2 (sprot)


GSKIP_HUMAN GSK3B-interacting protein (sprot)


PECR_HUMAN Peroxisomal trans-2-enoyl-CoA reductase (sprot)


ELF2_HUMAN ETS-related transcription factor Elf-2 (sprot)


ATS17_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 17 (sprot)


DEUP1_HUMAN Deuterosome assembly protein 1 (sprot)


UB2L3_HUMAN Ubiquitin-conjugating enzyme E2 L3 (sprot)


FHR2_HUMAN Complement factor H-related protein 2 (sprot)


LRFN2_HUMAN Leucine-rich repeat and fibronectin type-III domain-containing protein 2 (sprot)


PO3F1_HUMAN POU domain, class 3, transcription factor 1 (sprot)


H2A2C_HUMAN Histone H2A type 2-C (sprot)


WDR24_HUMAN GATOR complex protein WDR24 (sprot)


salivary plasminogen activator alpha 1, Desmodus rotundus


HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase (sprot)


LYZL1_HUMAN Lysozyme-like protein 1 (sprot)


O5AC2_HUMAN Olfactory receptor 5AC2 (sprot)


ZN423_HUMAN Zinc finger protein 423 (sprot)


BRSK1_HUMAN Serine/threonine-protein kinase BRSK1 (sprot)


SRRM2_HUMAN Serine/arginine repetitive matrix protein 2 (sprot)


S12A3_HUMAN Solute carrier family 12 member 3 (sprot)


NCLX_HUMAN Mitochondrial sodium/calcium exchanger protein (sprot)


ST17A_HUMAN Serine/threonine-protein kinase 17A (sprot)


NP1L2_HUMAN Nucleosome assembly protein 1-like 2 (sprot)


SOX_HUMAN Peroxisomal sarcosine oxidase (sprot)


DQB1_HUMAN HLA class II histocompatibility antigen, DQ beta 1 chain (sprot)


ALG6_HUMAN Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (sprot)


EPMIP_HUMAN EPM2A-interacting protein 1 (sprot)


MPPD2_HUMAN Metallophosphoesterase MPPED2 (sprot)


KLH18_HUMAN Kelch-like protein 18 (sprot)


GBRA3_HUMAN Gamma-aminobutyric acid receptor subunit alpha-3 (sprot)


GTF2I_HUMAN General transcription factor II-I (sprot)


1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase-like protein 1 (sprot)


HPLN2_HUMAN Hyaluronan and proteoglycan link protein 2 (sprot)


FRMD7_HUMAN FERM domain-containing protein 7 (sprot)


RL32_HUMAN 60S ribosomal protein L32 (sprot)


linear skin defects with multiple congenital anomalies


undifferentiated carcinoma of nasopharynx


CHD2_HUMAN Chromodomain-helicase-DNA-binding protein 2 (sprot)


MMS19_HUMAN MMS19 nucleotide excision repair protein homolog (sprot)


autosomal recessive hypohidrotic ectodermal dysplasia


KIFC1_HUMAN Kinesin-like protein KIFC1 (sprot)


WDTC1_HUMAN WD and tetratricopeptide repeats protein 1 (sprot)


COPG2_HUMAN Coatomer subunit gamma-2 (sprot)


SCN2B_HUMAN Sodium channel subunit beta-2 (sprot)


ZN326_HUMAN DBIRD complex subunit ZNF326 (sprot)


CPVL_HUMAN Probable serine carboxypeptidase CPVL (sprot)


congenital thrombotic thrombocytopenic purpura


NDUA7_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7 (sprot)


CDKL5_HUMAN Cyclin-dependent kinase-like 5 (sprot)


CCL5_HUMAN C-C motif chemokine 5 (sprot)


TGBR3_HUMAN Transforming growth factor beta receptor type 3 (sprot)


PEX14_HUMAN Peroxisomal membrane protein PEX14 (sprot)


PMS1_HUMAN PMS1 protein homolog 1 (sprot)


S6A11_HUMAN Sodium- and chloride-dependent GABA transporter 3 (sprot)


DPAGT1-congenital disorder of glycosylation


RAB7B_HUMAN Ras-related protein Rab-7b (sprot)


LRCH1_HUMAN Leucine-rich repeat and calponin homology domain-containing protein 1 (sprot)


U119A_HUMAN Protein unc-119 homolog A (sprot)


ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3


FCRL6_HUMAN Fc receptor-like protein 6 (sprot)


NLRP6_HUMAN NACHT, LRR and PYD domains-containing protein 6 (sprot)


CXL16_HUMAN C-X-C motif chemokine 16 (sprot)


BIRC6_HUMAN Baculoviral IAP repeat-containing protein 6 (sprot)


NCTR3_HUMAN Natural cytotoxicity triggering receptor 3 (sprot)


URB2_HUMAN Unhealthy ribosome biogenesis protein 2 homolog (sprot)


RL38_HUMAN 60S ribosomal protein L38 (sprot)


SN12L_HUMAN Schlafen family member 12-like (sprot)


CBX6_HUMAN Chromobox protein homolog 6 (sprot)


generalized epilepsy with febrile seizures plus


SCML1_HUMAN Sex comb on midleg-like protein 1 (sprot)


NACAD_HUMAN NAC-alpha domain-containing protein 1 (sprot)


TEAD1_HUMAN Transcriptional enhancer factor TEF-1 (sprot)


COG6_HUMAN Conserved oligomeric Golgi complex subunit 6 (sprot)


MAGC3_HUMAN Melanoma-associated antigen C3 (sprot)


SNP47_HUMAN Synaptosomal-associated protein 47 (sprot)


SMCA1_HUMAN Probable global transcription activator SNF2L1 (sprot)


PHF5A_HUMAN PHD finger-like domain-containing protein 5A (sprot)


neuroendocrine secretory protein 55 isoform Nesp55 (human)


SUMF1_HUMAN Formylglycine-generating enzyme (sprot)


PRAP1_HUMAN Proline-rich acidic protein 1 (sprot)


ZN692_HUMAN Zinc finger protein 692 (sprot)


GCYB2_HUMAN Guanylate cyclase soluble subunit beta-2 (sprot)


TRIM5_HUMAN Tripartite motif-containing protein 5 (sprot)


CY24B_HUMAN Cytochrome b-245 heavy chain (sprot)


AADAT_HUMAN Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial (sprot)


PCDAB_HUMAN Protocadherin alpha-11 (sprot)


3BHS7_HUMAN 3 beta-hydroxysteroid dehydrogenase type 7 (sprot)


ERAP2_HUMAN Endoplasmic reticulum aminopeptidase 2 (sprot)


ABD12_HUMAN Lysophosphatidylserine lipase ABHD12 (sprot)


SPOP_HUMAN Speckle-type POZ protein (sprot)


UHRF1_HUMAN E3 ubiquitin-protein ligase UHRF1 (sprot)


acute myeloid leukemia with t(8;16)(p11;p13) translocation


AP2D_HUMAN Transcription factor AP-2-delta (sprot)


GDF5_HUMAN Growth/differentiation factor 5 (sprot)


UBP40_HUMAN Ubiquitin carboxyl-terminal hydrolase 40 (sprot)


ZN703_HUMAN Zinc finger protein 703 (sprot)


PAQR6_HUMAN Membrane progestin receptor delta (sprot)


TOM5_HUMAN Mitochondrial import receptor subunit TOM5 homolog (sprot)


CLC2B_HUMAN C-type lectin domain family 2 member B (sprot)


MYBPH_HUMAN Myosin-binding protein H (sprot)


FOXQ1_HUMAN Forkhead box protein Q1 (sprot)


craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome


CART_HUMAN Cocaine- and amphetamine-regulated transcript protein (sprot)


OTUD4_HUMAN OTU domain-containing protein 4 (sprot)


PIGF_HUMAN Phosphatidylinositol-glycan biosynthesis class F protein (sprot)


PLGT2_HUMAN Protein O-glucosyltransferase 2 (sprot)


generalized resistance to thyroid hormone


SFTA2_HUMAN Surfactant-associated protein 2 (sprot)


NPS3B_HUMAN Protein NipSnap homolog 3B (sprot)


APCL_HUMAN Adenomatous polyposis coli protein 2 (sprot)


GRIA4_HUMAN Glutamate receptor 4 (sprot)


COA3_HUMAN Cytochrome c oxidase assembly factor 3 homolog, mitochondrial (sprot)


LERL1_HUMAN Leptin receptor overlapping transcript-like 1 (sprot)


GFRP_HUMAN GTP cyclohydrolase 1 feedback regulatory protein (sprot)


ZFHX3_HUMAN Zinc finger homeobox protein 3 (sprot)


FANCC_HUMAN Fanconi anemia group C protein (sprot)


CR1L_HUMAN Complement component receptor 1-like protein (sprot)


TBB2A_HUMAN Tubulin beta-2A chain (sprot)


HCP5_HUMAN HLA class I histocompatibility antigen protein P5 (sprot)


macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss


GPKOW_HUMAN G-patch domain and KOW motifs-containing protein (sprot)


CENPE_HUMAN Centromere-associated protein E (sprot)


arteritic anterior ischemic optic neuropathy


PCGF3_HUMAN Polycomb group RING finger protein 3 (sprot)


PCBP2_HUMAN Poly(rC)-binding protein 2 (sprot)


LRC59_HUMAN Leucine-rich repeat-containing protein 59 (sprot)


CC71L_HUMAN Coiled-coil domain-containing protein 71L (sprot)


congenital dyserythropoietic anemia type 2


SYN1L_HUMAN Synapse differentiation-inducing gene protein 1-like (sprot)


IRF7_HUMAN Interferon regulatory factor 7 (sprot)


NU214_HUMAN Nuclear pore complex protein Nup214 (sprot)


IRF2_HUMAN Interferon regulatory factor 2 (sprot)


COX14_HUMAN Cytochrome c oxidase assembly protein COX14 (sprot)


LCAP_HUMAN Leucyl-cystinyl aminopeptidase (sprot)


BCL6_HUMAN B-cell lymphoma 6 protein (sprot)


RD21L_HUMAN Double-strand-break repair protein rad21-like protein 1 (sprot)


SNPC2_HUMAN snRNA-activating protein complex subunit 2 (sprot)


SETD7_HUMAN Histone-lysine N-methyltransferase SETD7 (sprot)


GSTCD_HUMAN Glutathione S-transferase C-terminal domain-containing protein (sprot)


NUDT5_HUMAN ADP-sugar pyrophosphatase (sprot)


COG7-congenital disorder of glycosylation


MINY3_HUMAN Ubiquitin carboxyl-terminal hydrolase MINDY-3 (sprot)


FIBG_HUMAN Fibrinogen gamma chain (sprot)


TMC5_HUMAN Transmembrane channel-like protein 5 (sprot)


LPPRC_HUMAN Leucine-rich PPR motif-containing protein, mitochondrial (sprot)


PIMT_HUMAN Protein-L-isoaspartate(D-aspartate) O-methyltransferase (sprot)


SOCS3_HUMAN Suppressor of cytokine signaling 3 (sprot)


AT11B_HUMAN Phospholipid-transporting ATPase IF (sprot)


supratentorial primitive neuroectodermal tumor


autosomal recessive nonsyndromic hearing loss 101


EXOC1_HUMAN Exocyst complex component 1 (sprot)


EPC2_HUMAN Enhancer of polycomb homolog 2 (sprot)


AMD_HUMAN Peptidyl-glycine alpha-amidating monooxygenase (sprot)


BRDT_HUMAN Bromodomain testis-specific protein (sprot)


THSD4_HUMAN Thrombospondin type-1 domain-containing protein 4 (sprot)


GLT10_HUMAN Polypeptide N-acetylgalactosaminyltransferase 10 (sprot)


SGPP2_HUMAN Sphingosine-1-phosphate phosphatase 2 (sprot)


TMED3_HUMAN Transmembrane emp24 domain-containing protein 3 (sprot)


NUA4L_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2 (sprot)


UB2D1_HUMAN Ubiquitin-conjugating enzyme E2 D1 (sprot)


CD11A_HUMAN Cyclin-dependent kinase 11A (sprot)


UB2J2_HUMAN Ubiquitin-conjugating enzyme E2 J2 (sprot)


GSG1L_HUMAN Germ cell-specific gene 1-like protein (sprot)


DCST1_HUMAN E3 ubiquitin-protein ligase DCST1 (sprot)


RALY_HUMAN RNA-binding protein Raly (sprot)


GLCNE_HUMAN Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (sprot)


DDIT3_HUMAN DNA damage-inducible transcript 3 protein (sprot)


MPP3_HUMAN MAGUK p55 subfamily member 3 (sprot)


L2GL1_HUMAN Lethal(2) giant larvae protein homolog 1 (sprot)


AVR2B_HUMAN Activin receptor type-2B (sprot)


ATD3A_HUMAN ATPase family AAA domain-containing protein 3A (sprot)


FBW12_HUMAN F-box/WD repeat-containing protein 12 (sprot)


AAGAB_HUMAN Alpha- and gamma-adaptin-binding protein p34 (sprot)


AP3S1_HUMAN AP-3 complex subunit sigma-1 (sprot)


YES_HUMAN Tyrosine-protein kinase Yes (sprot)


RGPA2_HUMAN Ral GTPase-activating protein subunit alpha-2 (sprot)


RBM41_HUMAN RNA-binding protein 41 (sprot)


SODM_HUMAN Superoxide dismutase [Mn], mitochondrial (sprot)


DPP4_HUMAN Dipeptidyl peptidase 4 (sprot)


APR_HUMAN Phorbol-12-myristate-13-acetate-induced protein 1 (sprot)


G45IP_HUMAN Growth arrest and DNA damage-inducible proteins-interacting protein 1 (sprot)


GSHB_HUMAN Glutathione synthetase (sprot)


FGF3_HUMAN Fibroblast growth factor 3 (sprot)


malignant migrating partial seizures of infancy


neuroendocrine cell hyperplasia of infancy


PTPRR_HUMAN Receptor-type tyrosine-protein phosphatase R (sprot)


CDN2D_HUMAN Cyclin-dependent kinase 4 inhibitor D (sprot)


CCL24_HUMAN C-C motif chemokine 24 (sprot)


MK15_HUMAN Mitogen-activated protein kinase 15 (sprot)


ISPD_HUMAN D-ribitol-5-phosphate cytidylyltransferase (sprot)


SCOT1_HUMAN Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial (sprot)


central nervous system anaplastic large cell lymphoma


CTSR2_HUMAN Cation channel sperm-associated protein 2 (sprot)


autosomal dominant deafness - onychodystrophy syndrome


DNM1L_HUMAN Dynamin-1-like protein (sprot)


TGFA1_HUMAN Transforming growth factor-beta receptor-associated protein 1 (sprot)


ARI1_HUMAN E3 ubiquitin-protein ligase ARIH1 (sprot)


thiamine-responsive megaloblastic anemia syndrome


TTL11_HUMAN Tubulin polyglutamylase TTLL11 (sprot)


hantavirus hemorrhagic fever with renal syndrome


SMR3B_HUMAN Submaxillary gland androgen-regulated protein 3B (sprot)


TRPM6_HUMAN Transient receptor potential cation channel subfamily M member 6 (sprot)


TRFR_HUMAN Thyrotropin-releasing hormone receptor (sprot)


RU2A_HUMAN U2 small nuclear ribonucleoprotein A' (sprot)


ROR2_HUMAN Tyrosine-protein kinase transmembrane receptor ROR2 (sprot)


VP26C_HUMAN Vacuolar protein sorting-associated protein 26C (sprot)


X-linked hydrocephalus with stenosis of the aqueduct of Sylvius


NOB1_HUMAN RNA-binding protein NOB1 (sprot)


congenital erosive and vesicular dermatosis


REM2_HUMAN GTP-binding protein REM 2 (sprot)


SOX13_HUMAN Transcription factor SOX-13 (sprot)


BSSP4_HUMAN Brain-specific serine protease 4 (sprot)


NDUF3_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 (sprot)


PLOD3_HUMAN Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 (sprot)


TRA2A_HUMAN Transformer-2 protein homolog alpha (sprot)


ZN117_HUMAN Zinc finger protein 117 (sprot)


KRA42_HUMAN Keratin-associated protein 4-2 (sprot)


SHF_HUMAN SH2 domain-containing adapter protein F (sprot)


TRIPC_HUMAN E3 ubiquitin-protein ligase TRIP12 (sprot)


ZFP69_HUMAN Zinc finger protein 69 homolog (sprot)


ARVC_HUMAN Splicing regulator ARVCF (sprot)


ING4_HUMAN Inhibitor of growth protein 4 (sprot)


PCSK7_HUMAN Proprotein convertase subtilisin/kexin type 7 (sprot)


PPM1D_HUMAN Protein phosphatase 1D (sprot)


high-grade neuroendocrine carcinoma of the cervix uteri


RMI2_HUMAN RecQ-mediated genome instability protein 2 (sprot)


TLK1_HUMAN Serine/threonine-protein kinase tousled-like 1 (sprot)


HEM0_HUMAN 5-aminolevulinate synthase, erythroid-specific, mitochondrial (sprot)


PHAR4_HUMAN Phosphatase and actin regulator 4 (sprot)


SSRB_HUMAN Translocon-associated protein subunit beta (sprot)


NU155_HUMAN Nuclear pore complex protein Nup155 (sprot)


FNTB_HUMAN Protein farnesyltransferase subunit beta (sprot)


ATAD2_HUMAN ATPase family AAA domain-containing protein 2 (sprot)


CSN2_HUMAN COP9 signalosome complex subunit 2 (sprot)


partial deletion of the short arm of chromosome 1


PCKGM_HUMAN Phosphoenolpyruvate carboxykinase [GTP], mitochondrial (sprot)


RS26_HUMAN 40S ribosomal protein S26 (sprot)


S35A3_HUMAN UDP-N-acetylglucosamine transporter (sprot)


MTMR5_HUMAN Myotubularin-related protein 5 (sprot)


PCGF6_HUMAN Polycomb group RING finger protein 6 (sprot)


RHOH_HUMAN Rho-related GTP-binding protein RhoH (sprot)


LIMD2_HUMAN LIM domain-containing protein 2 (sprot)


RES18_HUMAN Regulated endocrine-specific protein 18 (sprot)


E2F3_HUMAN Transcription factor E2F3 (sprot)


DBX2_HUMAN Homeobox protein DBX2 (sprot)


APOH_HUMAN Beta-2-glycoprotein 1 (sprot)


K1C40_HUMAN Keratin, type I cytoskeletal 40 (sprot)


S39A7_HUMAN Zinc transporter SLC39A7 (sprot)


CO5A2_HUMAN Collagen alpha-2(V) chain (sprot)


AZIN2_HUMAN Antizyme inhibitor 2 (sprot)


FCAR_HUMAN Immunoglobulin alpha Fc receptor (sprot)


4EBP1_HUMAN Eukaryotic translation initiation factor 4E-binding protein 1 (sprot)


TIM13_HUMAN Mitochondrial import inner membrane translocase subunit Tim13 (sprot)


I11RA_HUMAN Interleukin-11 receptor subunit alpha (sprot)


MYPC2_HUMAN Myosin-binding protein C, fast-type (sprot)


ZY11B_HUMAN Protein zyg-11 homolog B (sprot)


ACADS_HUMAN Short-chain specific acyl-CoA dehydrogenase, mitochondrial (sprot)


Abnormality of cardiovascular system morphology


LAMP2_HUMAN Lysosome-associated membrane glycoprotein 2 (sprot)


OXER1_HUMAN Oxoeicosanoid receptor 1 (sprot)


LIAS_HUMAN Lipoyl synthase, mitochondrial (sprot)


ATP5J_HUMAN ATP synthase-coupling factor 6, mitochondrial (sprot)


PIGM_HUMAN GPI mannosyltransferase 1 (sprot)


EPHA2_HUMAN Ephrin type-A receptor 2 (sprot)


CBAR1_HUMAN CBY1-interacting BAR domain-containing protein 1 (sprot)


NBPFA_HUMAN Neuroblastoma breakpoint family member 10 (sprot)


DEFI6_HUMAN Differentially expressed in FDCP 6 homolog (sprot)


MRGX1_HUMAN Mas-related G-protein coupled receptor member X1 (sprot)


HELZ2_HUMAN Helicase with zinc finger domain 2 (sprot)


HHEX_HUMAN Hematopoietically-expressed homeobox protein HHEX (sprot)


SIAT2_HUMAN Beta-galactoside alpha-2,6-sialyltransferase 2 (sprot)


ARHGF_HUMAN Rho guanine nucleotide exchange factor 15 (sprot)


KCMB4_HUMAN Calcium-activated potassium channel subunit beta-4 (sprot)


TRI68_HUMAN E3 ubiquitin-protein ligase TRIM68 (sprot)


PYRD1_HUMAN Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 (sprot)


BMP2_HUMAN Bone morphogenetic protein 2 (sprot)


NXF5_HUMAN Nuclear RNA export factor 5 (sprot)


TTC34_HUMAN Tetratricopeptide repeat protein 34 (sprot)


AGRB3_HUMAN Adhesion G protein-coupled receptor B3 (sprot)


non-acquired combined pituitary hormone deficiency


congenital short bowel syndrome, autosomal recessive


MEF2D_HUMAN Myocyte-specific enhancer factor 2D (sprot)


MBNL3_HUMAN Muscleblind-like protein 3 (sprot)


POP7_HUMAN Ribonuclease P protein subunit p20 (sprot)


LTBP4_HUMAN Latent-transforming growth factor beta-binding protein 4 (sprot)


CCL8_HUMAN C-C motif chemokine 8 (sprot)


PKN1_HUMAN Serine/threonine-protein kinase N1 (sprot)


autosomal recessive nonsyndromic hearing loss 4


MFSD6_HUMAN Major facilitator superfamily domain-containing protein 6 (sprot)


CRBG1_HUMAN Beta/gamma crystallin domain-containing protein 1 (sprot)


BABA1_HUMAN BRISC and BRCA1-A complex member 1 (sprot)


CML1_HUMAN Chemerin-like receptor 1 (sprot)


HXC8_HUMAN Homeobox protein Hox-C8 (sprot)


PAR1_HUMAN Proteinase-activated receptor 1 (sprot)


CLCA2_HUMAN Calcium-activated chloride channel regulator 2 (sprot)


METRL_HUMAN Meteorin-like protein (sprot)


ZP2_HUMAN Zona pellucida sperm-binding protein 2 (sprot)


ARHGI_HUMAN Rho guanine nucleotide exchange factor 18 (sprot)


PP1A_HUMAN Serine/threonine-protein phosphatase PP1-alpha catalytic subunit (sprot)


FFAR1_HUMAN Free fatty acid receptor 1 (sprot)


HES2_HUMAN Transcription factor HES-2 (sprot)


C2TA_HUMAN MHC class II transactivator (sprot)


TM207_HUMAN Transmembrane protein 207 (sprot)


EIF3D_HUMAN Eukaryotic translation initiation factor 3 subunit D (sprot)


GBG3_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3 (sprot)


SNP29_HUMAN Synaptosomal-associated protein 29 (sprot)


BACD1_HUMAN BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1 (sprot)


TCAM1_HUMAN TIR domain-containing adapter molecule 1 (sprot)


TTYH3_HUMAN Protein tweety homolog 3 (sprot)


RIN3_HUMAN Ras and Rab interactor 3 (sprot)


megalencephalic leukoencephalopathy with subcortical cysts 1


NCKX3_HUMAN Sodium/potassium/calcium exchanger 3 (sprot)


BROX_HUMAN BRO1 domain-containing protein BROX (sprot)


late infantile neuronal ceroid lipofuscinosis


PDZD7_HUMAN PDZ domain-containing protein 7 (sprot)


HS71L_HUMAN Heat shock 70 kDa protein 1-like (sprot)


S52A3_HUMAN Solute carrier family 52, riboflavin transporter, member 3 (sprot)


PGDH_HUMAN 15-hydroxyprostaglandin dehydrogenase [NAD(+)] (sprot)


RPGR1_HUMAN X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 (sprot)


CHD1_HUMAN Chromodomain-helicase-DNA-binding protein 1 (sprot)


MAP1S_HUMAN Microtubule-associated protein 1S (sprot)


DHDH_HUMAN Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase (sprot)


NRAM1_HUMAN Natural resistance-associated macrophage protein 1 (sprot)


WDR26_HUMAN WD repeat-containing protein 26 (sprot)


PACN2_HUMAN Protein kinase C and casein kinase substrate in neurons protein 2 (sprot)


SHIP2_HUMAN Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 (sprot)


M4K5_HUMAN Mitogen-activated protein kinase kinase kinase kinase 5 (sprot)


TOM22_HUMAN Mitochondrial import receptor subunit TOM22 homolog (sprot)


CMTR1_HUMAN Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 (sprot)


CNDH2_HUMAN Condensin-2 complex subunit H2 (sprot)


SO6A1_HUMAN Solute carrier organic anion transporter family member 6A1 (sprot)


ATRX_HUMAN Transcriptional regulator ATRX (sprot)


FKBP4_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP4 (sprot)


1433T_HUMAN 14-3-3 protein theta (sprot)


G6PC3_HUMAN Glucose-6-phosphatase 3 (sprot)


RGS21_HUMAN Regulator of G-protein signaling 21 (sprot)


BCL7C_HUMAN B-cell CLL/lymphoma 7 protein family member C (sprot)


SWI5_HUMAN DNA repair protein SWI5 homolog (sprot)


MB211_HUMAN Putative nucleotidyltransferase MAB21L1 (sprot)


CMPK2_HUMAN UMP-CMP kinase 2, mitochondrial (sprot)


TPPC3_HUMAN Trafficking protein particle complex subunit 3 (sprot)


hyperammonemia due to N-acetylglutamate synthase deficiency


IF2P_HUMAN Eukaryotic translation initiation factor 5B (sprot)


PDE4D_HUMAN cAMP-specific 3',5'-cyclic phosphodiesterase 4D (sprot)


TTC38_HUMAN Tetratricopeptide repeat protein 38 (sprot)


GATA3_HUMAN Trans-acting T-cell-specific transcription factor GATA-3 (sprot)


S35B3_HUMAN Adenosine 3'-phospho 5'-phosphosulfate transporter 2 (sprot)


GML_HUMAN Glycosyl-phosphatidylinositol-anchored molecule-like protein (sprot)


KANL3_HUMAN KAT8 regulatory NSL complex subunit 3 (sprot)


KDIS_HUMAN Kinase D-interacting substrate of 220 kDa (sprot)


ASNS_HUMAN Asparagine synthetase [glutamine-hydrolyzing] (sprot)


CHMP6_HUMAN Charged multivesicular body protein 6 (sprot)


MTMRD_HUMAN Myotubularin-related protein 13 (sprot)


PF21B_HUMAN PHD finger protein 21B (sprot)


TMPS9_HUMAN Transmembrane protease serine 9 (sprot)


hereditary sensory and autonomic neuropathy type 1


ATG4D_HUMAN Cysteine protease ATG4D (sprot)


ST2A1_HUMAN Sulfotransferase 2A1 (sprot)


MXRA5_HUMAN Matrix-remodeling-associated protein 5 (sprot)


K2C8_HUMAN Keratin, type II cytoskeletal 8 (sprot)


PSCA_HUMAN Prostate stem cell antigen (sprot)


GLRA1_HUMAN Glycine receptor subunit alpha-1 (sprot)


SPT25_HUMAN Spermatogenesis-associated protein 25 (sprot)


TPC6B_HUMAN Trafficking protein particle complex subunit 6B (sprot)


multiple sclerosis, susceptibility to, 4


RM02_HUMAN 39S ribosomal protein L2, mitochondrial (sprot)


CHST9_HUMAN Carbohydrate sulfotransferase 9 (sprot)


autosomal recessive nonsyndromic hearing loss 21


MAGC2_HUMAN Melanoma-associated antigen C2 (sprot)


KIF27_HUMAN Kinesin-like protein KIF27 (sprot)


PDCD7_HUMAN Programmed cell death protein 7 (sprot)


VPRE3_HUMAN Pre-B lymphocyte protein 3 (sprot)


acute posterior multifocal placoid pigment epitheliopathy


MCA3_HUMAN Eukaryotic translation elongation factor 1 epsilon-1 (sprot)


TGM3L_HUMAN Protein-glutamine gamma-glutamyltransferase 6 (sprot)


autosomal dominant keratitis-ichthyosis-hearing loss syndrome


SPY1_HUMAN Protein sprouty homolog 1 (sprot)


primary intraosseous venous malformation


SIM2_HUMAN Single-minded homolog 2 (sprot)


IF4G1_HUMAN Eukaryotic translation initiation factor 4 gamma 1 (sprot)


IGBP1_HUMAN Immunoglobulin-binding protein 1 (sprot)


GAB1_HUMAN GRB2-associated-binding protein 1 (sprot)


CSK23_HUMAN Casein kinase II subunit alpha 3 (sprot)


AAPK2_HUMAN 5'-AMP-activated protein kinase catalytic subunit alpha-2 (sprot)


LATH_HUMAN Putative BPIFA4P protein (sprot)


CITE1_HUMAN Cbp/p300-interacting transactivator 1 (sprot)


JIP2_HUMAN C-Jun-amino-terminal kinase-interacting protein 2 (sprot)


digestive system mixed adenoneuroendocrine carcinoma


K1C12_HUMAN Keratin, type I cytoskeletal 12 (sprot)


SMR3A_HUMAN Submaxillary gland androgen-regulated protein 3A (sprot)


TOLIP_HUMAN Toll-interacting protein (sprot)


calcitonin gene-related peptide 1 (human)


UVRAG_HUMAN UV radiation resistance-associated gene protein (sprot)


ZN750_HUMAN Zinc finger protein 750 (sprot)


CCD86_HUMAN Coiled-coil domain-containing protein 86 (sprot)


SAC31_HUMAN SAC3 domain-containing protein 1 (sprot)


PDGFB_HUMAN Platelet-derived growth factor subunit B (sprot)


autosomal dominant nonsyndromic hearing loss


CCR2_HUMAN C-C chemokine receptor type 2 (sprot)


DCAF7_HUMAN DDB1- and CUL4-associated factor 7 (sprot)


RB27B_HUMAN Ras-related protein Rab-27B (sprot)


NR2F6_HUMAN Nuclear receptor subfamily 2 group F member 6 (sprot)


GOG6A_HUMAN Golgin subfamily A member 6A (sprot)


G6PC1_HUMAN Glucose-6-phosphatase catalytic subunit 1 (sprot)


ACER2_HUMAN Alkaline ceramidase 2 (sprot)


PDIA2_HUMAN Protein disulfide-isomerase A2 (sprot)


NEMO_HUMAN NF-kappa-B essential modulator (sprot)


CXA8_HUMAN Gap junction alpha-8 protein (sprot)


SAT1_HUMAN Diamine acetyltransferase 1 (sprot)


KI20A_HUMAN Kinesin-like protein KIF20A (sprot)


anti-glomerular basement membrane disease


SENP2_HUMAN Sentrin-specific protease 2 (sprot)


PO4F3_HUMAN POU domain, class 4, transcription factor 3 (sprot)


GORS1_HUMAN Golgi reassembly-stacking protein 1 (sprot)


NEGR1_HUMAN Neuronal growth regulator 1 (sprot)


SAFB2_HUMAN Scaffold attachment factor B2 (sprot)


TRNK1_HUMAN TPR and ankyrin repeat-containing protein 1 (sprot)


IFT46_HUMAN Intraflagellar transport protein 46 homolog (sprot)


AKT3_HUMAN RAC-gamma serine/threonine-protein kinase (sprot)


COX2_HUMAN Cytochrome c oxidase subunit 2 (sprot)


DCLK1_HUMAN Serine/threonine-protein kinase DCLK1 (sprot)


SRRM4_HUMAN Serine/arginine repetitive matrix protein 4 (sprot)


THSD1_HUMAN Thrombospondin type-1 domain-containing protein 1 (sprot)


BCAR1_HUMAN Breast cancer anti-estrogen resistance protein 1 (sprot)


ZBED6_HUMAN Zinc finger BED domain-containing protein 6 (sprot)


OTU6B_HUMAN Deubiquitinase OTUD6B (sprot)


ANM8_HUMAN Protein arginine N-methyltransferase 8 (sprot)


maternal uniparental disomy of chromosome 4


autosomal recessive limb-girdle muscular dystrophy


NOL11_HUMAN Nucleolar protein 11 (sprot)


HLAG_HUMAN HLA class I histocompatibility antigen, alpha chain G (sprot)


VSX1_HUMAN Visual system homeobox 1 (sprot)


glycogen storage disorder due to hepatic glycogen synthase deficiency


Z587B_HUMAN Zinc finger protein 587B (sprot)


LY6K_HUMAN Lymphocyte antigen 6K (sprot)


MCM6_HUMAN DNA replication licensing factor MCM6 (sprot)


PRAM_HUMAN PML-RARA-regulated adapter molecule 1 (sprot)


AGAL_HUMAN Alpha-galactosidase A (sprot)


TMIG3_HUMAN Transmembrane domain-containing protein TMIGD3 (sprot)


SMRCD_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 (sprot)


SIGIR_HUMAN Single Ig IL-1-related receptor (sprot)


SGPP1_HUMAN Sphingosine-1-phosphate phosphatase 1 (sprot)


KCNE2_HUMAN Potassium voltage-gated channel subfamily E member 2 (sprot)


B4GA1_HUMAN Beta-1,4-glucuronyltransferase 1 (sprot)


GFOD1_HUMAN Glucose-fructose oxidoreductase domain-containing protein 1 (sprot)


DNHD1_HUMAN Dynein heavy chain domain-containing protein 1 (sprot)


HMGN2_HUMAN Non-histone chromosomal protein HMG-17 (sprot)


OX1R_HUMAN Orexin/Hypocretin receptor type 1 (sprot)


goiter, multinodular 1, with or without Sertoli-Leydig cell tumors


AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome


FLRT3_HUMAN Leucine-rich repeat transmembrane protein FLRT3 (sprot)


Charcot-Marie-Tooth disease axonal type 2C


CRDL1_HUMAN Chordin-like protein 1 (sprot)


DMWD_HUMAN Dystrophia myotonica WD repeat-containing protein (sprot)


GAS1_HUMAN Growth arrest-specific protein 1 (sprot)


PXL2A_HUMAN Peroxiredoxin-like 2A (sprot)


KCNC3_HUMAN Potassium voltage-gated channel subfamily C member 3 (sprot)


MF14A_HUMAN Hippocampus abundant transcript 1 protein (sprot)


BT3A2_HUMAN Butyrophilin subfamily 3 member A2 (sprot)


C1TC_HUMAN C-1-tetrahydrofolate synthase, cytoplasmic (sprot)


CTLA4_HUMAN Cytotoxic T-lymphocyte protein 4 (sprot)


PKHN1_HUMAN Pleckstrin homology domain-containing family N member 1 (sprot)


VIPR2_HUMAN Vasoactive intestinal polypeptide receptor 2 (sprot)


TM11B_HUMAN Transmembrane protease serine 11B (sprot)


PPL13_HUMAN Placental protein 13-like (sprot)


CODA1_HUMAN Collagen alpha-1(XIII) chain (sprot)


SG196_HUMAN Protein O-mannose kinase (sprot)


NCAN_HUMAN Neurocan core protein (sprot)


THA_HUMAN Thyroid hormone receptor alpha (sprot)


PAX6_HUMAN Paired box protein Pax-6 (sprot)


CTR4_HUMAN Cationic amino acid transporter 4 (sprot)


KCNA6_HUMAN Potassium voltage-gated channel subfamily A member 6 (sprot)


UNC5B_HUMAN Netrin receptor UNC5B (sprot)


RALA_HUMAN Ras-related protein Ral-A (sprot)


46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency


RAB8A_HUMAN Ras-related protein Rab-8A (sprot)


E2F8_HUMAN Transcription factor E2F8 (sprot)


HNRPU_HUMAN Heterogeneous nuclear ribonucleoprotein U (sprot)


TAF1B_HUMAN TATA box-binding protein-associated factor RNA polymerase I subunit B (sprot)


CSRN3_HUMAN Cysteine/serine-rich nuclear protein 3 (sprot)


VAPA_HUMAN Vesicle-associated membrane protein-associated protein A (sprot)


NIP7_HUMAN 60S ribosome subunit biogenesis protein NIP7 homolog (sprot)


B2L11_HUMAN Bcl-2-like protein 11 (sprot)


PYGB_HUMAN Glycogen phosphorylase, brain form (sprot)


neonatal severe primary hyperparathyroidism


PCDGC_HUMAN Protocadherin gamma-A12 (sprot)


RNF11_HUMAN RING finger protein 11 (sprot)


SUMO2_HUMAN Small ubiquitin-related modifier 2 (sprot)


PRR5L_HUMAN Proline-rich protein 5-like (sprot)


V2R_HUMAN Vasopressin V2 receptor (sprot)


VAS1_HUMAN V-type proton ATPase subunit S1 (sprot)


KLRG1_HUMAN Killer cell lectin-like receptor subfamily G member 1 (sprot)


ARP8_HUMAN Actin-related protein 8 (sprot)


RORB_HUMAN Nuclear receptor ROR-beta (sprot)


ZFN2A_HUMAN AN1-type zinc finger protein 2A (sprot)


TBX6_HUMAN T-box transcription factor TBX6 (sprot)


SC5A9_HUMAN Sodium/glucose cotransporter 4 (sprot)


PAQR7_HUMAN Membrane progestin receptor alpha (sprot)


SRCRL_HUMAN Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D (sprot)


EPHB4_HUMAN Ephrin type-B receptor 4 (sprot)


UFL1_HUMAN E3 UFM1-protein ligase 1 (sprot)


cerebellar atrophy, developmental delay, and seizures


AK1D1_HUMAN Aldo-keto reductase family 1 member D1 (sprot)


DTD1_HUMAN D-aminoacyl-tRNA deacylase 1 (sprot)


SNAI2_HUMAN Zinc finger protein SNAI2 (sprot)


ABCAD_HUMAN ATP-binding cassette sub-family A member 13 (sprot)


2A5D_HUMAN Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (sprot)


PPARG-related familial partial lipodystrophy


VSX2_HUMAN Visual system homeobox 2 (sprot)


ULK3_HUMAN Serine/threonine-protein kinase ULK3 (sprot)


DDX47_HUMAN Probable ATP-dependent RNA helicase DDX47 (sprot)


ADA28_HUMAN Disintegrin and metalloproteinase domain-containing protein 28 (sprot)


CAVN1_HUMAN Caveolae-associated protein 1 (sprot)


PSMG4_HUMAN Proteasome assembly chaperone 4 (sprot)


benign adult familial myoclonic epilepsy


BAG2_HUMAN BAG family molecular chaperone regulator 2 (sprot)


EFHD1_HUMAN EF-hand domain-containing protein D1 (sprot)


tubulointerstitial nephritis and uveitis syndrome


GRM4_HUMAN Metabotropic glutamate receptor 4 (sprot)


SUCB2_HUMAN Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial (sprot)


RM18_HUMAN 39S ribosomal protein L18, mitochondrial (sprot)


SNPC1_HUMAN snRNA-activating protein complex subunit 1 (sprot)


CF218_HUMAN Putative uncharacterized protein encoded by LINC00518 (sprot)


PC4L1_HUMAN Purkinje cell protein 4-like protein 1 (sprot)


NSRP1_HUMAN Nuclear speckle splicing regulatory protein 1 (sprot)


CP27B_HUMAN 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial (sprot)


T170B_HUMAN Transmembrane protein 170B (sprot)


DLGP1_HUMAN Disks large-associated protein 1 (sprot)


EMAL4_HUMAN Echinoderm microtubule-associated protein-like 4 (sprot)


MKRN2_HUMAN E3 ubiquitin-protein ligase makorin-2 (sprot)


GUC1B_HUMAN Guanylyl cyclase-activating protein 2 (sprot)


RAP2B_HUMAN Ras-related protein Rap-2b (sprot)


ASXL2_HUMAN Putative Polycomb group protein ASXL2 (sprot)


CGL_HUMAN Cystathionine gamma-lyase (sprot)


leukoencephalopathy with calcifications and cysts


PLPL9_HUMAN 85/88 kDa calcium-independent phospholipase A2 (sprot)


SHOX2_HUMAN Short stature homeobox protein 2 (sprot)


ZBT8A_HUMAN Zinc finger and BTB domain-containing protein 8A (sprot)


PIAS3_HUMAN E3 SUMO-protein ligase PIAS3 (sprot)


BCL9L_HUMAN B-cell CLL/lymphoma 9-like protein (sprot)


TBCB_HUMAN Tubulin-folding cofactor B (sprot)


CAD26_HUMAN Cadherin-like protein 26 (sprot)


ZMAT2_HUMAN Zinc finger matrin-type protein 2 (sprot)


XRN1_HUMAN 5'-3' exoribonuclease 1 (sprot)


EAA3_HUMAN Excitatory amino acid transporter 3 (sprot)


LCN8_HUMAN Epididymal-specific lipocalin-8 (sprot)


BAHD1_HUMAN Bromo adjacent homology domain-containing 1 protein (sprot)


FPRP_HUMAN Prostaglandin F2 receptor negative regulator (sprot)


SPEF2_HUMAN Sperm flagellar protein 2 (sprot)


TECR_HUMAN Very-long-chain enoyl-CoA reductase (sprot)


PPP5_HUMAN Serine/threonine-protein phosphatase 5 (sprot)


LIPP_HUMAN Pancreatic triacylglycerol lipase (sprot)


KBTBB_HUMAN Kelch repeat and BTB domain-containing protein 11 (sprot)


FRAT1_HUMAN Proto-oncogene FRAT1 (sprot)


autosomal recessive severe congenital neutropenia due to G6PC3 deficiency


CNTP5_HUMAN Contactin-associated protein-like 5 (sprot)


ARHG6_HUMAN Rho guanine nucleotide exchange factor 6 (sprot)


ATS9_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 9 (sprot)


ATS5_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 5 (sprot)


SC61B_HUMAN Protein transport protein Sec61 subunit beta (sprot)


EHD2_HUMAN EH domain-containing protein 2 (sprot)


CP2R1_HUMAN Vitamin D 25-hydroxylase (sprot)


PP1G_HUMAN Serine/threonine-protein phosphatase PP1-gamma catalytic subunit (sprot)


OSTB_HUMAN Organic solute transporter subunit beta (sprot)


PPWD1_HUMAN Peptidylprolyl isomerase domain and WD repeat-containing protein 1 (sprot)


RS8_HUMAN 40S ribosomal protein S8 (sprot)


CPNS2_HUMAN Calpain small subunit 2 (sprot)


WDR81_HUMAN WD repeat-containing protein 81 (sprot)


NOG2_HUMAN Nucleolar GTP-binding protein 2 (sprot)


CTU1_HUMAN Cytoplasmic tRNA 2-thiolation protein 1 (sprot)


USP9Y_HUMAN Probable ubiquitin carboxyl-terminal hydrolase FAF-Y (sprot)


MYCN_HUMAN N-myc proto-oncogene protein (sprot)


RBM19_HUMAN Probable RNA-binding protein 19 (sprot)


ROS1_HUMAN Proto-oncogene tyrosine-protein kinase ROS (sprot)


PGBM_HUMAN Basement membrane-specific heparan sulfate proteoglycan core protein (sprot)


PHC2_HUMAN Polyhomeotic-like protein 2 (sprot)


UFD1_HUMAN Ubiquitin recognition factor in ER-associated degradation protein 1 (sprot)


MKX_HUMAN Homeobox protein Mohawk (sprot)


CCL23_HUMAN C-C motif chemokine 23 (sprot)


C42S1_HUMAN CDC42 small effector protein 1 (sprot)


ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome


MPC2_HUMAN Mitochondrial pyruvate carrier 2 (sprot)


COG5_HUMAN Conserved oligomeric Golgi complex subunit 5 (sprot)


WDR11_HUMAN WD repeat-containing protein 11 (sprot)


PHC3_HUMAN Polyhomeotic-like protein 3 (sprot)


PGM2L_HUMAN Glucose 1,6-bisphosphate synthase (sprot)


ISK2_HUMAN Serine protease inhibitor Kazal-type 2 (sprot)


QCR8_HUMAN Cytochrome b-c1 complex subunit 8 (sprot)


DSE_HUMAN Dermatan-sulfate epimerase (sprot)


DMRTA_HUMAN Doublesex- and mab-3-related transcription factor A1 (sprot)


T132D_HUMAN Transmembrane protein 132D (sprot)


UBR2_HUMAN E3 ubiquitin-protein ligase UBR2 (sprot)


HACD3_HUMAN Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3 (sprot)


NUP62_HUMAN Nuclear pore glycoprotein p62 (sprot)


TFIP8_HUMAN Tumor necrosis factor alpha-induced protein 8 (sprot)


AHSP_HUMAN Alpha-hemoglobin-stabilizing protein (sprot)


GRK4_HUMAN G protein-coupled receptor kinase 4 (sprot)


HBG2_HUMAN Hemoglobin subunit gamma-2 (sprot)


ZN398_HUMAN Zinc finger protein 398 (sprot)


ZBT44_HUMAN Zinc finger and BTB domain-containing protein 44 (sprot)


ABR_HUMAN Active breakpoint cluster region-related protein (sprot)


XPA_HUMAN DNA repair protein complementing XP-A cells (sprot)


NFAT5_HUMAN Nuclear factor of activated T-cells 5 (sprot)


NDUB9_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 (sprot)


HMGC2_HUMAN 3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic (sprot)


saccharomyces cerevisiae allergenic extract


PAQRA_HUMAN Monocyte to macrophage differentiation factor 2 (sprot)


IGSF6_HUMAN Immunoglobulin superfamily member 6 (sprot)


DNSL2_HUMAN Deoxyribonuclease-1-like 2 (sprot)


GALK2_HUMAN N-acetylgalactosamine kinase (sprot)


UQCC1_HUMAN Ubiquinol-cytochrome-c reductase complex assembly factor 1 (sprot)


TMUB2_HUMAN Transmembrane and ubiquitin-like domain-containing protein 2 (sprot)


CTCFL_HUMAN Transcriptional repressor CTCFL (sprot)


RN125_HUMAN E3 ubiquitin-protein ligase RNF125 (sprot)


GRHPR_HUMAN Glyoxylate reductase/hydroxypyruvate reductase (sprot)


SMD1_HUMAN Small nuclear ribonucleoprotein Sm D1 (sprot)


PTK6_HUMAN Protein-tyrosine kinase 6 (sprot)


TLL2_HUMAN Tolloid-like protein 2 (sprot)


DNAI3_HUMAN Dynein axonemal intermediate chain 3 (sprot)


MRAP2_HUMAN Melanocortin-2 receptor accessory protein 2 (sprot)


MAP4_HUMAN Microtubule-associated protein 4 (sprot)


BFAR_HUMAN Bifunctional apoptosis regulator (sprot)


PGFRA_HUMAN Platelet-derived growth factor receptor alpha (sprot)


AMHR2_HUMAN Anti-Muellerian hormone type-2 receptor (sprot)


STK35_HUMAN Serine/threonine-protein kinase 35 (sprot)


ARG35_HUMAN Rho guanine nucleotide exchange factor 35 (sprot)


extragonadal nonseminomatous germ cell tumor


PA2G4_HUMAN Proliferation-associated protein 2G4 (sprot)


ACSL4_HUMAN Long-chain-fatty-acid--CoA ligase 4 (sprot)


KT33B_HUMAN Keratin, type I cuticular Ha3-II (sprot)


SIA4A_HUMAN CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 (sprot)


Covid-19 Coronavirus Artificial Antigen Presenting Cell Vaccine


KI2L1_HUMAN Killer cell immunoglobulin-like receptor 2DL1 (sprot)


IF4A1_HUMAN Eukaryotic initiation factor 4A-I (sprot)


RHBT1_HUMAN Rho-related BTB domain-containing protein 1 (sprot)


PAR3L_HUMAN Partitioning defective 3 homolog B (sprot)


ZIM2_HUMAN Zinc finger imprinted 2 (sprot)


RBY1B_HUMAN RNA-binding motif protein, Y chromosome, family 1 member B (sprot)


Immunoglobulin g1, bispecific, anti-(human epidermal growth factor receptors, her2 and her3) (humanized clone mcla-128 .gamma.1-chain), disulfide with humanized clone mcla-128 light chain, dimer


CARL2_HUMAN Capping protein, Arp2/3 and myosin-I linker protein 2 (sprot)


EMC8_HUMAN ER membrane protein complex subunit 8 (sprot)


BBS7_HUMAN Bardet-Biedl syndrome 7 protein (sprot)


ZBT22_HUMAN Zinc finger and BTB domain-containing protein 22 (sprot)


TFR2_HUMAN Transferrin receptor protein 2 (sprot)


KRIT1_HUMAN Krev interaction trapped protein 1 (sprot)


PI42A_HUMAN Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha (sprot)


CTR9_HUMAN RNA polymerase-associated protein CTR9 homolog (sprot)


VP37A_HUMAN Vacuolar protein sorting-associated protein 37A (sprot)


PP14A_HUMAN Protein phosphatase 1 regulatory subunit 14A (sprot)


inherited bleeding disorder, platelet-type


GOR_HUMAN Putative exonuclease GOR (sprot)


NPAS2_HUMAN Neuronal PAS domain-containing protein 2 (sprot)


SYPL1_HUMAN Synaptophysin-like protein 1 (sprot)


TN13B_HUMAN Tumor necrosis factor ligand superfamily member 13B (sprot)


SP1_HUMAN Transcription factor Sp1 (sprot)


I10R2_HUMAN Interleukin-10 receptor subunit beta (sprot)


CELF2_HUMAN CUGBP Elav-like family member 2 (sprot)


GPT_HUMAN UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (sprot)


LITD1_HUMAN LINE-1 type transposase domain-containing protein 1 (sprot)


ZEP3_HUMAN Transcription factor HIVEP3 (sprot)


circadian rhythm sleep disorder, jet lag type


ASH2L_HUMAN Set1/Ash2 histone methyltransferase complex subunit ASH2 (sprot)


MA2B1_HUMAN Lysosomal alpha-mannosidase (sprot)


FMT_HUMAN Methionyl-tRNA formyltransferase, mitochondrial (sprot)


SDF2L_HUMAN Stromal cell-derived factor 2-like protein 1 (sprot)


THOC3_HUMAN THO complex subunit 3 (sprot)


FABPL_HUMAN Fatty acid-binding protein, liver (sprot)


PP1R8_HUMAN Nuclear inhibitor of protein phosphatase 1 (sprot)


S29A3_HUMAN Equilibrative nucleoside transporter 3 (sprot)


TGM3_HUMAN Protein-glutamine gamma-glutamyltransferase E (sprot)


autosomal dominant progressive external ophthalmoplegia


I36RA_HUMAN Interleukin-36 receptor antagonist protein (sprot)


TBL2_HUMAN Transducin beta-like protein 2 (sprot)


PRY_HUMAN PTPN13-like protein, Y-linked (sprot)


5HT1E_HUMAN 5-hydroxytryptamine receptor 1E (sprot)


BBS2_HUMAN Bardet-Biedl syndrome 2 protein (sprot)


congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome


ES8L2_HUMAN Epidermal growth factor receptor kinase substrate 8-like protein 2 (sprot)


STAR4_HUMAN StAR-related lipid transfer protein 4 (sprot)


CEL3A_HUMAN Chymotrypsin-like elastase family member 3A (sprot)


NOTC3_HUMAN Neurogenic locus notch homolog protein 3 (sprot)


TISB_HUMAN mRNA decay activator protein ZFP36L1 (sprot)


TAD2B_HUMAN Transcriptional adapter 2-beta (sprot)


ARHG8_HUMAN Neuroepithelial cell-transforming gene 1 protein (sprot)


STING-associated vasculopathy with onset in infancy


AL3A1_HUMAN Aldehyde dehydrogenase, dimeric NADP-preferring (sprot)


MPLKI_HUMAN M-phase-specific PLK1-interacting protein (sprot)


HIPK3_HUMAN Homeodomain-interacting protein kinase 3 (sprot)


HM20A_HUMAN High mobility group protein 20A (sprot)


PSMD1_HUMAN 26S proteasome non-ATPase regulatory subunit 1 (sprot)


BT1A1_HUMAN Butyrophilin subfamily 1 member A1 (sprot)


SCYL1_HUMAN N-terminal kinase-like protein (sprot)


CDK14_HUMAN Cyclin-dependent kinase 14 (sprot)


multiple mitochondrial dysfunctions syndrome 1


NAA11_HUMAN N-alpha-acetyltransferase 11 (sprot)


VMP1_HUMAN Vacuole membrane protein 1 (sprot)


PCDG4_HUMAN Protocadherin gamma-A4 (sprot)


PELI2_HUMAN E3 ubiquitin-protein ligase pellino homolog 2 (sprot)


GBF1_HUMAN Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 (sprot)


TRIM7_HUMAN E3 ubiquitin-protein ligase TRIM7 (sprot)


THS7B_HUMAN Thrombospondin type-1 domain-containing protein 7B (sprot)


DIDO1_HUMAN Death-inducer obliterator 1 (sprot)


GARE2_HUMAN GRB2-associated and regulator of MAPK protein 2 (sprot)


STRP2_HUMAN Striatin-interacting protein 2 (sprot)


LRC26_HUMAN Leucine-rich repeat-containing protein 26 (sprot)


FBX38_HUMAN F-box only protein 38 (sprot)


3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome


SO1B1_HUMAN Solute carrier organic anion transporter family member 1B1 (sprot)


MZT2B_HUMAN Mitotic-spindle organizing protein 2B (sprot)


PSB10_HUMAN Proteasome subunit beta type-10 (sprot)


PPAL_HUMAN Lysosomal acid phosphatase (sprot)


AIFM1_HUMAN Apoptosis-inducing factor 1, mitochondrial (sprot)


TM114_HUMAN Transmembrane protein 114 (sprot)


ASM_HUMAN Sphingomyelin phosphodiesterase (sprot)


RAB41_HUMAN Ras-related protein Rab-41 (sprot)


MAK_HUMAN Serine/threonine-protein kinase MAK (sprot)


DNJB6_HUMAN DnaJ homolog subfamily B member 6 (sprot)


MRP8_HUMAN ATP-binding cassette sub-family C member 11 (sprot)


SH3L3_HUMAN SH3 domain-binding glutamic acid-rich-like protein 3 (sprot)


PRAF3_HUMAN PRA1 family protein 3 (sprot)


DNM3B_HUMAN DNA (cytosine-5)-methyltransferase 3B (sprot)


DQB2_HUMAN HLA class II histocompatibility antigen, DQ beta 2 chain (sprot)


PSD13_HUMAN 26S proteasome non-ATPase regulatory subunit 13 (sprot)


NCBP2_HUMAN Nuclear cap-binding protein subunit 2 (sprot)


ABHEB_HUMAN Putative protein-lysine deacylase ABHD14B (sprot)


HPBP1_HUMAN Hsp70-binding protein 1 (sprot)


NKX63_HUMAN Homeobox protein Nkx-6.3 (sprot)


ICLN_HUMAN Methylosome subunit pICln (sprot)


LGI4_HUMAN Leucine-rich repeat LGI family member 4 (sprot)


Aspergillus fumigatus allergenic extract


GRIK3_HUMAN Glutamate receptor ionotropic, kainate 3 (sprot)


PATE4_HUMAN Prostate and testis expressed protein 4 (sprot)


GPR32_HUMAN Probable G-protein coupled receptor 32 (sprot)


RM47_HUMAN 39S ribosomal protein L47, mitochondrial (sprot)


SNP25_HUMAN Synaptosomal-associated protein 25 (sprot)


SRSF4_HUMAN Serine/arginine-rich splicing factor 4 (sprot)


FGRL1_HUMAN Fibroblast growth factor receptor-like 1 (sprot)


IF2M_HUMAN Translation initiation factor IF-2, mitochondrial (sprot)


TTC4_HUMAN Tetratricopeptide repeat protein 4 (sprot)


MUC24_HUMAN Sialomucin core protein 24 (sprot)


TMIE_HUMAN Transmembrane inner ear expressed protein (sprot)


Trichophyton mentagrophytes allergenic extract


SAA1_HUMAN Serum amyloid A-1 protein (sprot)


AGRE3_HUMAN Adhesion G protein-coupled receptor E3 (sprot)


RIR2B_HUMAN Ribonucleoside-diphosphate reductase subunit M2 B (sprot)


LZTR1_HUMAN Leucine-zipper-like transcriptional regulator 1 (sprot)


LRRT2_HUMAN Leucine-rich repeat transmembrane neuronal protein 2 (sprot)


PNMA3_HUMAN Paraneoplastic antigen Ma3 (sprot)


TGFR2_HUMAN TGF-beta receptor type-2 (sprot)


TRI38_HUMAN E3 ubiquitin-protein ligase TRIM38 (sprot)


DC1I1_HUMAN Cytoplasmic dynein 1 intermediate chain 1 (sprot)


NDUB6_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 (sprot)


HXC6_HUMAN Homeobox protein Hox-C6 (sprot)


FBX25_HUMAN F-box only protein 25 (sprot)


FMO3_HUMAN Dimethylaniline monooxygenase [N-oxide-forming] 3 (sprot)


ATS10_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 10 (sprot)


IGHD_HUMAN Immunoglobulin heavy constant delta (sprot)


KS6A4_HUMAN Ribosomal protein S6 kinase alpha-4 (sprot)


ZMIZ1_HUMAN Zinc finger MIZ domain-containing protein 1 (sprot)


PADI3_HUMAN Protein-arginine deiminase type-3 (sprot)


YPEL3_HUMAN Protein yippee-like 3 (sprot)


PAR10_HUMAN Protein mono-ADP-ribosyltransferase PARP10 (sprot)


acute myeloid leukemia with mutated NPM1


maternal uniparental disomy of chromosome 14


TIM_HUMAN Protein timeless homolog (sprot)


UTP18_HUMAN U3 small nucleolar RNA-associated protein 18 homolog (sprot)


MP2K2_HUMAN Dual specificity mitogen-activated protein kinase kinase 2 (sprot)


DPM1_HUMAN Dolichol-phosphate mannosyltransferase subunit 1 (sprot)


progeria-short stature-pigmented nevi syndrome


ECSCR_HUMAN Endothelial cell-specific chemotaxis regulator (sprot)


ANR50_HUMAN Ankyrin repeat domain-containing protein 50 (sprot)


YMEL1_HUMAN ATP-dependent zinc metalloprotease YME1L1 (sprot)


monocytopenia with susceptibility to infections


MBD1_HUMAN Methyl-CpG-binding domain protein 1 (sprot)


EFHC1_HUMAN EF-hand domain-containing protein 1 (sprot)


TREX1_HUMAN Three-prime repair exonuclease 1 (sprot)


UBR1_HUMAN E3 ubiquitin-protein ligase UBR1 (sprot)


MGDP1_HUMAN Magnesium-dependent phosphatase 1 (sprot)


CX7A2_HUMAN Cytochrome c oxidase subunit 7A2, mitochondrial (sprot)


DNJB3_HUMAN DnaJ homolog subfamily B member 3 (sprot)


GTR6_HUMAN Solute carrier family 2, facilitated glucose transporter member 6 (sprot)


CKLF3_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 3 (sprot)


RBPMS_HUMAN RNA-binding protein with multiple splicing (sprot)


LDHA_HUMAN L-lactate dehydrogenase A chain (sprot)


PSD11_HUMAN 26S proteasome non-ATPase regulatory subunit 11 (sprot)


SPAT4_HUMAN Spermatogenesis-associated protein 4 (sprot)


autosomal recessive nonsyndromic hearing loss 16


infantile-onset periodic fever-panniculitis-dermatosis syndrome


ATS16_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 16 (sprot)


QORL1_HUMAN Quinone oxidoreductase-like protein 1 (sprot)


SSRA_HUMAN Translocon-associated protein subunit alpha (sprot)


SCMH1_HUMAN Polycomb protein SCMH1 (sprot)


MA2A2_HUMAN Alpha-mannosidase 2x (sprot)


TMED9_HUMAN Transmembrane emp24 domain-containing protein 9 (sprot)


Clonostachys rosea f. rosea allergenic extract


RU1C_HUMAN U1 small nuclear ribonucleoprotein C (sprot)


FCERA_HUMAN High affinity immunoglobulin epsilon receptor subunit alpha (sprot)


NT5C_HUMAN 5'(3')-deoxyribonucleotidase, cytosolic type (sprot)


GSTT1_HUMAN Glutathione S-transferase theta-1 (sprot)


TM2D1_HUMAN TM2 domain-containing protein 1 (sprot)


NMDE4_HUMAN Glutamate receptor ionotropic, NMDA 2D (sprot)


MCATL_HUMAN Mitochondrial basic amino acids transporter (sprot)


XPC_HUMAN DNA repair protein complementing XP-C cells (sprot)


AT1B3_HUMAN Sodium/potassium-transporting ATPase subunit beta-3 (sprot)


UBXN1_HUMAN UBX domain-containing protein 1 (sprot)


CDT1_HUMAN DNA replication factor Cdt1 (sprot)


KIF23_HUMAN Kinesin-like protein KIF23 (sprot)


RCBT1_HUMAN RCC1 and BTB domain-containing protein 1 (sprot)


DVL2_HUMAN Segment polarity protein dishevelled homolog DVL-2 (sprot)


ACSS3_HUMAN Acyl-CoA synthetase short-chain family member 3, mitochondrial (sprot)


NMD3A_HUMAN Glutamate receptor ionotropic, NMDA 3A (sprot)


monoclonal mast cell activation syndrome


DNJC5_HUMAN DnaJ homolog subfamily C member 5 (sprot)


HBA_HUMAN Hemoglobin subunit alpha (sprot)


PTGR1_HUMAN Prostaglandin reductase 1 (sprot)


FOXP4_HUMAN Forkhead box protein P4 (sprot)


EXOC4_HUMAN Exocyst complex component 4 (sprot)


IGF1_HUMAN Insulin-like growth factor I (sprot)


RNF39_HUMAN RING finger protein 39 (sprot)


CO8A_HUMAN Complement component C8 alpha chain (sprot)


TAF7L_HUMAN Transcription initiation factor TFIID subunit 7-like (sprot)


IFT25_HUMAN Intraflagellar transport protein 25 homolog (sprot)


MCTP1_HUMAN Multiple C2 and transmembrane domain-containing protein 1 (sprot)


DPP2_HUMAN Dipeptidyl peptidase 2 (sprot)


LAT2_HUMAN Large neutral amino acids transporter small subunit 2 (sprot)


DDX24_HUMAN ATP-dependent RNA helicase DDX24 (sprot)


TM135_HUMAN Transmembrane protein 135 (sprot)


neonatal intrahepatic cholestasis due to citrin deficiency


PKHA1_HUMAN Pleckstrin homology domain-containing family A member 1 (sprot)


cyclin-dependent kinase inhibitor 2A isoform h5 (human)


COA4_HUMAN Cytochrome c oxidase assembly factor 4 homolog, mitochondrial (sprot)


TRMB_HUMAN tRNA (guanine-N(7)-)-methyltransferase (sprot)


WNK2_HUMAN Serine/threonine-protein kinase WNK2 (sprot)


BPIB1_HUMAN BPI fold-containing family B member 1 (sprot)


CLC11_HUMAN C-type lectin domain family 11 member A (sprot)


MSL1_HUMAN Male-specific lethal 1 homolog (sprot)


IBP1_HUMAN Insulin-like growth factor-binding protein 1 (sprot)


muscular dystrophy, limb-girdle, autosomal dominant


SG3A1_HUMAN Secretoglobin family 3A member 1 (sprot)


FND3B_HUMAN Fibronectin type III domain-containing protein 3B (sprot)


RBM22_HUMAN Pre-mRNA-splicing factor RBM22 (sprot)


PRDM1_HUMAN PR domain zinc finger protein 1 (sprot)


SYTL2_HUMAN Synaptotagmin-like protein 2 (sprot)


IEX1_HUMAN Radiation-inducible immediate-early gene IEX-1 (sprot)


autosomal recessive spinocerebellar ataxia 12


HXD1_HUMAN Homeobox protein Hox-D1 (sprot)


SCD_HUMAN Stearoyl-CoA desaturase (sprot)


TM181_HUMAN Transmembrane protein 181 (sprot)


KPCB_HUMAN Protein kinase C beta type (sprot)


idiopathic steroid-sensitive nephrotic syndrome


CELR1_HUMAN Cadherin EGF LAG seven-pass G-type receptor 1 (sprot)


CCYL1_HUMAN Cyclin-Y-like protein 1 (sprot)


PELI3_HUMAN E3 ubiquitin-protein ligase pellino homolog 3 (sprot)


KBRS2_HUMAN NF-kappa-B inhibitor-interacting Ras-like protein 2 (sprot)


SAR1B_HUMAN GTP-binding protein SAR1b (sprot)


spondylometaphyseal dysplasia-cone-rod dystrophy syndrome


UBP11_HUMAN Ubiquitin carboxyl-terminal hydrolase 11 (sprot)


DUS7_HUMAN Dual specificity protein phosphatase 7 (sprot)


SERA_HUMAN D-3-phosphoglycerate dehydrogenase (sprot)


SUGP1_HUMAN SURP and G-patch domain-containing protein 1 (sprot)


LCN6_HUMAN Epididymal-specific lipocalin-6 (sprot)


CCD50_HUMAN Coiled-coil domain-containing protein 50 (sprot)


CNOT7_HUMAN CCR4-NOT transcription complex subunit 7 (sprot)


KCNKF_HUMAN Potassium channel subfamily K member 15 (sprot)


PBIP1_HUMAN Pre-B-cell leukemia transcription factor-interacting protein 1 (sprot)


LAMC3_HUMAN Laminin subunit gamma-3 (sprot)


QPCT_HUMAN Glutaminyl-peptide cyclotransferase (sprot)


HDAC8_HUMAN Histone deacetylase 8 (sprot)


RL12_HUMAN 60S ribosomal protein L12 (sprot)


ANR26_HUMAN Ankyrin repeat domain-containing protein 26 (sprot)


RLGPB_HUMAN Ral GTPase-activating protein subunit beta (sprot)


PHAR1_HUMAN Phosphatase and actin regulator 1 (sprot)


NSE2_HUMAN E3 SUMO-protein ligase NSE2 (sprot)


TLE6_HUMAN Transducin-like enhancer protein 6 (sprot)


ZBP1_HUMAN Z-DNA-binding protein 1 (sprot)


SLAF8_HUMAN SLAM family member 8 (sprot)


PLBL1_HUMAN Phospholipase B-like 1 (sprot)


FER_HUMAN Tyrosine-protein kinase Fer (sprot)


multiple sclerosis, susceptibility to, 2


CNMD_HUMAN Leukocyte cell-derived chemotaxin 1 (sprot)


UBP34_HUMAN Ubiquitin carboxyl-terminal hydrolase 34 (sprot)


TFAP4_HUMAN Transcription factor AP-4 (sprot)


ZN363_HUMAN RING finger and CHY zinc finger domain-containing protein 1 (sprot)


ZN217_HUMAN Zinc finger protein 217 (sprot)


NUCG_HUMAN Endonuclease G, mitochondrial (sprot)


ARI1A_HUMAN AT-rich interactive domain-containing protein 1A (sprot)


DKK1_HUMAN Dickkopf-related protein 1 (sprot)


autoimmune disease, susceptibility to, 2


NU4LM_HUMAN NADH-ubiquinone oxidoreductase chain 4L (sprot)


PKHB1_HUMAN Pleckstrin homology domain-containing family B member 1 (sprot)


chronic myelogenous leukemia, BCR-ABL1 positive


TULP1_HUMAN Tubby-related protein 1 (sprot)


seborrhea-like dermatitis with psoriasiform elements


hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism


DBF4A_HUMAN Protein DBF4 homolog A (sprot)


NBPF1_HUMAN Neuroblastoma breakpoint family member 1 (sprot)


CO8A2_HUMAN Collagen alpha-2(VIII) chain (sprot)


MKRN3_HUMAN Probable E3 ubiquitin-protein ligase makorin-3 (sprot)


AGRF5_HUMAN Adhesion G protein-coupled receptor F5 (sprot)


NDUS2_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial (sprot)


MXRA8_HUMAN Matrix remodeling-associated protein 8 (sprot)


IN80B_HUMAN INO80 complex subunit B (sprot)


RS18_HUMAN 40S ribosomal protein S18 (sprot)


DUS1_HUMAN Dual specificity protein phosphatase 1 (sprot)


S39A3_HUMAN Zinc transporter ZIP3 (sprot)


S28A2_HUMAN Sodium/nucleoside cotransporter 2 (sprot)


hyperimmunoglobulinemia D with periodic fever


SETD4_HUMAN SET domain-containing protein 4 (sprot)


PRRT2_HUMAN Proline-rich transmembrane protein 2 (sprot)


HXD9_HUMAN Homeobox protein Hox-D9 (sprot)


FANCG_HUMAN Fanconi anemia group G protein (sprot)


ELA_HUMAN Apelin receptor early endogenous ligand (sprot)


TI17B_HUMAN Mitochondrial import inner membrane translocase subunit Tim17-B (sprot)


PTCD3_HUMAN Pentatricopeptide repeat domain-containing protein 3, mitochondrial (sprot)


HMGN1_HUMAN Non-histone chromosomal protein HMG-14 (sprot)


MTFR2_HUMAN Mitochondrial fission regulator 2 (sprot)


GPR31_HUMAN 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor (sprot)


GBP5_HUMAN Guanylate-binding protein 5 (sprot)


MERTK_HUMAN Tyrosine-protein kinase Mer (sprot)


PPBT_HUMAN Alkaline phosphatase, tissue-nonspecific isozyme (sprot)


IFT52_HUMAN Intraflagellar transport protein 52 homolog (sprot)


FOXA2_HUMAN Hepatocyte nuclear factor 3-beta (sprot)


PDE2A_HUMAN cGMP-dependent 3',5'-cyclic phosphodiesterase (sprot)


GALR1_HUMAN Galanin receptor type 1 (sprot)


Hermansky-Pudlak syndrome with pulmonary fibrosis


RHBG_HUMAN Ammonium transporter Rh type B (sprot)


RHG07_HUMAN Rho GTPase-activating protein 7 (sprot)


pigmented paravenous retinochoroidal atrophy


DDAH2_HUMAN N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 (sprot)


HPLN3_HUMAN Hyaluronan and proteoglycan link protein 3 (sprot)


UBP32_HUMAN Ubiquitin carboxyl-terminal hydrolase 32 (sprot)


FBX17_HUMAN F-box only protein 17 (sprot)


NCOA1_HUMAN Nuclear receptor coactivator 1 (sprot)


PIAS4_HUMAN E3 SUMO-protein ligase PIAS4 (sprot)


MYC_HUMAN Myc proto-oncogene protein (sprot)


EFR3A_HUMAN Protein EFR3 homolog A (sprot)


NKG2E_HUMAN NKG2-E type II integral membrane protein (sprot)


CEAM4_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 4 (sprot)


HXD12_HUMAN Homeobox protein Hox-D12 (sprot)


ERAL1_HUMAN GTPase Era, mitochondrial (sprot)


ZCH14_HUMAN Zinc finger CCHC domain-containing protein 14 (sprot)


AGRG6_HUMAN Adhesion G-protein coupled receptor G6 (sprot)


PPR1C_HUMAN Protein phosphatase 1 regulatory subunit 1C (sprot)


LSM4_HUMAN U6 snRNA-associated Sm-like protein LSm4 (sprot)


SMU1_HUMAN WD40 repeat-containing protein SMU1 (sprot)


CCR10_HUMAN C-C chemokine receptor type 10 (sprot)


AR13A_HUMAN ADP-ribosylation factor-like protein 13A (sprot)


FABP5_HUMAN Fatty acid-binding protein 5 (sprot)


ARHG9_HUMAN Rho guanine nucleotide exchange factor 9 (sprot)


RSAD1_HUMAN Radical S-adenosyl methionine domain-containing protein 1, mitochondrial (sprot)


CCD32_HUMAN Coiled-coil domain-containing protein 32 (sprot)


TMTC2_HUMAN Protein O-mannosyl-transferase TMTC2 (sprot)


RIMS2_HUMAN Regulating synaptic membrane exocytosis protein 2 (sprot)


PP14C_HUMAN Protein phosphatase 1 regulatory subunit 14C (sprot)


ZNF92_HUMAN Zinc finger protein 92 (sprot)


ZFP82_HUMAN Zinc finger protein 82 homolog (sprot)


ARP21_HUMAN cAMP-regulated phosphoprotein 21 (sprot)


TERF2_HUMAN Telomeric repeat-binding factor 2 (sprot)


CASS4_HUMAN Cas scaffolding protein family member 4 (sprot)


PDZD2_HUMAN PDZ domain-containing protein 2 (sprot)


U17LO_HUMAN Ubiquitin carboxyl-terminal hydrolase 17-like protein 24 (sprot)


SH319_HUMAN SH3 domain-containing protein 19 (sprot)


LRP3_HUMAN Low-density lipoprotein receptor-related protein 3 (sprot)


SNR40_HUMAN U5 small nuclear ribonucleoprotein 40 kDa protein (sprot)


MOB1B_HUMAN MOB kinase activator 1B (sprot)


ABCBB_HUMAN Bile salt export pump (sprot)


MCTS1_HUMAN Malignant T-cell-amplified sequence 1 (sprot)


DNAI7_HUMAN Dynein axonemal intermediate chain 7 (sprot)


LPAR1_HUMAN Lysophosphatidic acid receptor 1 (sprot)


PPB1_HUMAN Alkaline phosphatase, placental type (sprot)


AWAT1_HUMAN Acyl-CoA wax alcohol acyltransferase 1 (sprot)


46,XX ovotesticular disorder of sex development


AIM2_HUMAN Interferon-inducible protein AIM2 (sprot)


HLPDA_HUMAN Hypoxia-inducible lipid droplet-associated protein (sprot)


P3H1_HUMAN Prolyl 3-hydroxylase 1 (sprot)


MAGD2_HUMAN Melanoma-associated antigen D2 (sprot)


nasal cavity and paranasal sinus carcinoma


EPHA8_HUMAN Ephrin type-A receptor 8 (sprot)


ST1C2_HUMAN Sulfotransferase 1C2 (sprot)


ANKZ1_HUMAN Ankyrin repeat and zinc finger domain-containing protein 1 (sprot)


SLU7_HUMAN Pre-mRNA-splicing factor SLU7 (sprot)


SH24A_HUMAN SH2 domain-containing protein 4A (sprot)


NDUB5_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial (sprot)


OTU7A_HUMAN OTU domain-containing protein 7A (sprot)


PLD3_HUMAN 5'-3' exonuclease PLD3 (sprot)


ELMO2_HUMAN Engulfment and cell motility protein 2 (sprot)


EXOS4_HUMAN Exosome complex component RRP41 (sprot)


sarcomatoid squamous cell skin carcinoma


AGRG2_HUMAN Adhesion G-protein coupled receptor G2 (sprot)


YPEL5_HUMAN Protein yippee-like 5 (sprot)


COMD7_HUMAN COMM domain-containing protein 7 (sprot)


TYY2_HUMAN Transcription factor YY2 (sprot)


HERC6_HUMAN Probable E3 ubiquitin-protein ligase HERC6 (sprot)


SYTL4_HUMAN Synaptotagmin-like protein 4 (sprot)


SC6A1_HUMAN Sodium- and chloride-dependent GABA transporter 1 (sprot)


HRH4_HUMAN Histamine H4 receptor (sprot)


VPP3_HUMAN V-type proton ATPase 116 kDa subunit a 3 (sprot)


AGK_HUMAN Acylglycerol kinase, mitochondrial (sprot)


MMEL1_HUMAN Membrane metallo-endopeptidase-like 1 (sprot)


UBE2W_HUMAN Ubiquitin-conjugating enzyme E2 W (sprot)


PKR2_HUMAN Prokineticin receptor 2 (sprot)


LAMC1_HUMAN Laminin subunit gamma-1 (sprot)


S40A1_HUMAN Solute carrier family 40 member 1 (sprot)


CBY2_HUMAN Protein chibby homolog 2 (sprot)


SPRE_HUMAN Sepiapterin reductase (sprot)


IAH1_HUMAN Isoamyl acetate-hydrolyzing esterase 1 homolog (sprot)


TRIM1_HUMAN Probable E3 ubiquitin-protein ligase MID2 (sprot)


SKOR1_HUMAN SKI family transcriptional corepressor 1 (sprot)


KCNKC_HUMAN Potassium channel subfamily K member 12 (sprot)


NCHL1_HUMAN Neural cell adhesion molecule L1-like protein (sprot)


VOPP1_HUMAN Vesicular, overexpressed in cancer, prosurvival protein 1 (sprot)


S35G5_HUMAN Solute carrier family 35 member G5 (sprot)


NNTM_HUMAN NAD(P) transhydrogenase, mitochondrial (sprot)


CD046_HUMAN Renal cancer differentiation gene 1 protein (sprot)


PLPL6_HUMAN Patatin-like phospholipase domain-containing protein 6 (sprot)


TACO1_HUMAN Translational activator of cytochrome c oxidase 1 (sprot)


PTGDS_HUMAN Prostaglandin-H2 D-isomerase (sprot)


CSMD2_HUMAN CUB and sushi domain-containing protein 2 (sprot)


RGS1_HUMAN Regulator of G-protein signaling 1 (sprot)


WDR7_HUMAN WD repeat-containing protein 7 (sprot)


PAR6B_HUMAN Partitioning defective 6 homolog beta (sprot)


WIPF2_HUMAN WAS/WASL-interacting protein family member 2 (sprot)


PA24E_HUMAN Cytosolic phospholipase A2 epsilon (sprot)


ATD2B_HUMAN ATPase family AAA domain-containing protein 2B (sprot)


CDKL3_HUMAN Cyclin-dependent kinase-like 3 (sprot)


NCK1_HUMAN Cytoplasmic protein NCK1 (sprot)


GLO2_HUMAN Hydroxyacylglutathione hydrolase, mitochondrial (sprot)


ZN292_HUMAN Zinc finger protein 292 (sprot)


KIF24_HUMAN Kinesin-like protein KIF24 (sprot)


PGAM2_HUMAN Phosphoglycerate mutase 2 (sprot)


CBPC6_HUMAN Cytosolic carboxypeptidase 6 (sprot)


GNAI3_HUMAN Guanine nucleotide-binding protein G(i) subunit alpha-3 (sprot)


KRT81_HUMAN Keratin, type II cuticular Hb1 (sprot)


IF_HUMAN Cobalamin binding intrinsic factor (sprot)


MRP4_HUMAN ATP-binding cassette sub-family C member 4 (sprot)


HMX1_HUMAN Homeobox protein HMX1 (sprot)


MTP_HUMAN Microsomal triglyceride transfer protein large subunit (sprot)


DJB11_HUMAN DnaJ homolog subfamily B member 11 (sprot)


FGFP1_HUMAN Fibroblast growth factor-binding protein 1 (sprot)


DIRA2_HUMAN GTP-binding protein Di-Ras2 (sprot)


PROX1_HUMAN Prospero homeobox protein 1 (sprot)


MSH3_HUMAN DNA mismatch repair protein Msh3 (sprot)


BRD8_HUMAN Bromodomain-containing protein 8 (sprot)


VP26A_HUMAN Vacuolar protein sorting-associated protein 26A (sprot)


PACRG_HUMAN Parkin coregulated gene protein (sprot)


PSME4_HUMAN Proteasome activator complex subunit 4 (sprot)


TBA1B_HUMAN Tubulin alpha-1B chain (sprot)


microcephaly, seizures, and developmental delay


DOCK8_HUMAN Dedicator of cytokinesis protein 8 (sprot)


ATE1_HUMAN Arginyl-tRNA--protein transferase 1 (sprot)


NETO2_HUMAN Neuropilin and tolloid-like protein 2 (sprot)


AR6P1_HUMAN ADP-ribosylation factor-like protein 6-interacting protein 1 (sprot)


IGF2_HUMAN Insulin-like growth factor II (sprot)


SRTM1_HUMAN Serine-rich and transmembrane domain-containing protein 1 (sprot)


NACC2_HUMAN Nucleus accumbens-associated protein 2 (sprot)


punctate palmoplantar keratoderma type III


HINT3_HUMAN Adenosine 5'-monophosphoramidase HINT3 (sprot)


diencephalic-mesencephalic junction dysplasia syndrome


GEMI4_HUMAN Gem-associated protein 4 (sprot)


SRY_HUMAN Sex-determining region Y protein (sprot)


KCNT2_HUMAN Potassium channel subfamily T member 2 (sprot)


PHF19_HUMAN PHD finger protein 19 (sprot)


BNC2_HUMAN Zinc finger protein basonuclin-2 (sprot)


transient hypogammaglobulinemia of infancy


LCE3A_HUMAN Late cornified envelope protein 3A (sprot)


UNC50_HUMAN Protein unc-50 homolog (sprot)


ABC3C_HUMAN DNA dC->dU-editing enzyme APOBEC-3C (sprot)


ECH1_HUMAN Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial (sprot)


H4G_HUMAN Histone H4-like protein type G (sprot)


PHF12_HUMAN PHD finger protein 12 (sprot)


MEPCE_HUMAN 7SK snRNA methylphosphate capping enzyme (sprot)


GDIB_HUMAN Rab GDP dissociation inhibitor beta (sprot)


SYJ2B_HUMAN Synaptojanin-2-binding protein (sprot)


PA2G3_HUMAN Group 3 secretory phospholipase A2 (sprot)


UBP47_HUMAN Ubiquitin carboxyl-terminal hydrolase 47 (sprot)


NPTX1_HUMAN Neuronal pentraxin-1 (sprot)


RSPH9_HUMAN Radial spoke head protein 9 homolog (sprot)


ABLM1_HUMAN Actin-binding LIM protein 1 (sprot)


NEU1_HUMAN Oxytocin-neurophysin 1 (sprot)


chronic diarrhea due to glucoamylase deficiency


KLF3_HUMAN Krueppel-like factor 3 (sprot)


MIRO2_HUMAN Mitochondrial Rho GTPase 2 (sprot)


subepithelial mucinous corneal dystrophy


HPDL_HUMAN 4-hydroxyphenylpyruvate dioxygenase-like protein (sprot)


IDLC_HUMAN Axonemal dynein light intermediate polypeptide 1 (sprot)


TPTE2_HUMAN Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 (sprot)


ANR55_HUMAN Ankyrin repeat domain-containing protein 55 (sprot)


COPT2_HUMAN Probable low affinity copper uptake protein 2 (sprot)


FGF4_HUMAN Fibroblast growth factor 4 (sprot)


S17A9_HUMAN Solute carrier family 17 member 9 (sprot)


LOXH1_HUMAN Lipoxygenase homology domain-containing protein 1 (sprot)


ZMY10_HUMAN Zinc finger MYND domain-containing protein 10 (sprot)


HBAT_HUMAN Hemoglobin subunit theta-1 (sprot)


mixed lobular and ductal breast carcinoma


FGF22_HUMAN Fibroblast growth factor 22 (sprot)


NDUB8_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial (sprot)


HXB2_HUMAN Homeobox protein Hox-B2 (sprot)


RS13_HUMAN 40S ribosomal protein S13 (sprot)


UNC80_HUMAN Protein unc-80 homolog (sprot)


GLI2_HUMAN Zinc finger protein GLI2 (sprot)


RGPA1_HUMAN Ral GTPase-activating protein subunit alpha-1 (sprot)


PWP1_HUMAN Periodic tryptophan protein 1 homolog (sprot)


THY1_HUMAN Thy-1 membrane glycoprotein (sprot)


autosomal recessive primary microcephaly


PSD4_HUMAN PH and SEC7 domain-containing protein 4 (sprot)


cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome


MIER1_HUMAN Mesoderm induction early response protein 1 (sprot)


TFDP1_HUMAN Transcription factor Dp-1 (sprot)


DC121_HUMAN DDB1- and CUL4-associated factor 12-like protein 1 (sprot)


KCNKI_HUMAN Potassium channel subfamily K member 18 (sprot)


NMNA1_HUMAN Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 (sprot)


TCHL1_HUMAN Trichohyalin-like protein 1 (sprot)


CYRIB_HUMAN CYFIP-related Rac1 interactor B (sprot)


IF2B3_HUMAN Insulin-like growth factor 2 mRNA-binding protein 3 (sprot)


UCKL1_HUMAN Uridine-cytidine kinase-like 1 (sprot)


RBX1_HUMAN E3 ubiquitin-protein ligase RBX1 (sprot)


TARA_HUMAN TRIO and F-actin-binding protein (sprot)


CD3D_HUMAN T-cell surface glycoprotein CD3 delta chain (sprot)


CRADD_HUMAN Death domain-containing protein CRADD (sprot)


vitamin K deficiency hemorrhagic disease


INT6_HUMAN Integrator complex subunit 6 (sprot)


SMAGP_HUMAN Small cell adhesion glycoprotein (sprot)


HIP1_HUMAN Huntingtin-interacting protein 1 (sprot)


ARMX3_HUMAN Armadillo repeat-containing X-linked protein 3 (sprot)


KLK3_HUMAN Prostate-specific antigen (sprot)


PNMA2_HUMAN Paraneoplastic antigen Ma2 (sprot)


IBP7_HUMAN Insulin-like growth factor-binding protein 7 (sprot)


SHAN3_HUMAN SH3 and multiple ankyrin repeat domains protein 3 (sprot)


EXOC6_HUMAN Exocyst complex component 6 (sprot)


KAPCA_HUMAN cAMP-dependent protein kinase catalytic subunit alpha (sprot)


GBRA5_HUMAN Gamma-aminobutyric acid receptor subunit alpha-5 (sprot)


SAHH2_HUMAN S-adenosylhomocysteine hydrolase-like protein 1 (sprot)


STK33_HUMAN Serine/threonine-protein kinase 33 (sprot)


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia


KAZD1_HUMAN Kazal-type serine protease inhibitor domain-containing protein 1 (sprot)


CSPG4_HUMAN Chondroitin sulfate proteoglycan 4 (sprot)


CX7B2_HUMAN Cytochrome c oxidase subunit 7B2, mitochondrial (sprot)


DPOD4_HUMAN DNA polymerase delta subunit 4 (sprot)


PTN1_HUMAN Tyrosine-protein phosphatase non-receptor type 1 (sprot)


TTC19_HUMAN Tetratricopeptide repeat protein 19, mitochondrial (sprot)


CD33_HUMAN Myeloid cell surface antigen CD33 (sprot)


TXND2_HUMAN Thioredoxin domain-containing protein 2 (sprot)


PLCB1_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 (sprot)


PON3_HUMAN Serum paraoxonase/lactonase 3 (sprot)


PIGR_HUMAN Polymeric immunoglobulin receptor (sprot)


osteoclastic giant cell tumor of pancreas


sterile multifocal osteomyelitis with periostitis and pustulosis


FBX10_HUMAN F-box only protein 10 (sprot)


MRP1_HUMAN Multidrug resistance-associated protein 1 (sprot)


DPH7_HUMAN Diphthine methyltransferase (sprot)


Ile(5)-angiotensin II (1-7) dizwitterion


TIM16_HUMAN Mitochondrial import inner membrane translocase subunit TIM16 (sprot)


DNMBP_HUMAN Dynamin-binding protein (sprot)


ARHGQ_HUMAN Rho guanine nucleotide exchange factor 26 (sprot)


MICU1_HUMAN Calcium uptake protein 1, mitochondrial (sprot)


TEAN2_HUMAN Transcription elongation factor A N-terminal and central domain-containing protein 2 (sprot)


MYSM1_HUMAN Deubiquitinase MYSM1 (sprot)


PHF8_HUMAN Histone lysine demethylase PHF8 (sprot)


EYA4_HUMAN Eyes absent homolog 4 (sprot)


CGB3_HUMAN Choriogonadotropin subunit beta 3 (sprot)


ZN410_HUMAN Zinc finger protein 410 (sprot)


RN114_HUMAN E3 ubiquitin-protein ligase RNF114 (sprot)


CCL2_HUMAN C-C motif chemokine 2 (sprot)


SHSA3_HUMAN Protein shisa-3 homolog (sprot)


LEMD1_HUMAN LEM domain-containing protein 1 (sprot)


SPR2A_HUMAN Small proline-rich protein 2A (sprot)


SUSD1_HUMAN Sushi domain-containing protein 1 (sprot)


PNRC1_HUMAN Proline-rich nuclear receptor coactivator 1 (sprot)


RUSC2_HUMAN AP-4 complex accessory subunit RUSC2 (sprot)


FANCF_HUMAN Fanconi anemia group F protein (sprot)


C2D2A_HUMAN Coiled-coil and C2 domain-containing protein 2A (sprot)


KATL2_HUMAN Katanin p60 ATPase-containing subunit A-like 2 (sprot)


KRT83_HUMAN Keratin, type II cuticular Hb3 (sprot)


DTX1_HUMAN E3 ubiquitin-protein ligase DTX1 (sprot)


LDHC_HUMAN L-lactate dehydrogenase C chain (sprot)


PEAK1_HUMAN Inactive tyrosine-protein kinase PEAK1 (sprot)


PROX2_HUMAN Prospero homeobox protein 2 (sprot)


DCAF5_HUMAN DDB1- and CUL4-associated factor 5 (sprot)


DMB_HUMAN HLA class II histocompatibility antigen, DM beta chain (sprot)


PITM1_HUMAN Membrane-associated phosphatidylinositol transfer protein 1 (sprot)


GPR3_HUMAN G-protein coupled receptor 3 (sprot)


XCR1_HUMAN Chemokine XC receptor 1 (sprot)


ARL3_HUMAN ADP-ribosylation factor-like protein 3 (sprot)


CAF1A_HUMAN Chromatin assembly factor 1 subunit A (sprot)


NPT4_HUMAN Sodium-dependent phosphate transport protein 4 (sprot)


SNAB_HUMAN Beta-soluble NSF attachment protein (sprot)


TNF13_HUMAN Tumor necrosis factor ligand superfamily member 13 (sprot)


TRAF5_HUMAN TNF receptor-associated factor 5 (sprot)


OSR1_HUMAN Protein odd-skipped-related 1 (sprot)


CAND2_HUMAN Cullin-associated NEDD8-dissociated protein 2 (sprot)


TNFL4_HUMAN Tumor necrosis factor ligand superfamily member 4 (sprot)


PKHG3_HUMAN Pleckstrin homology domain-containing family G member 3 (sprot)


GOLP3_HUMAN Golgi phosphoprotein 3 (sprot)


BKRB1_HUMAN B1 bradykinin receptor (sprot)


CRTAM_HUMAN Cytotoxic and regulatory T-cell molecule (sprot)


ZN503_HUMAN Zinc finger protein 503 (sprot)


AT2L1_HUMAN Ethanolamine-phosphate phospho-lyase (sprot)


NDUF7_HUMAN Protein arginine methyltransferase NDUFAF7, mitochondrial (sprot)


APBB3_HUMAN Amyloid-beta A4 precursor protein-binding family B member 3 (sprot)


TRM61_HUMAN tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A (sprot)


BRMS1_HUMAN Breast cancer metastasis-suppressor 1 (sprot)


UBAC2_HUMAN Ubiquitin-associated domain-containing protein 2 (sprot)


ACBD7_HUMAN Acyl-CoA-binding domain-containing protein 7 (sprot)


FGD1_HUMAN FYVE, RhoGEF and PH domain-containing protein 1 (sprot)


PARG_HUMAN Poly(ADP-ribose) glycohydrolase (sprot)


NFL_HUMAN Neurofilament light polypeptide (sprot)


CPN2_HUMAN Carboxypeptidase N subunit 2 (sprot)


RBM10_HUMAN RNA-binding protein 10 (sprot)


DCP1A_HUMAN mRNA-decapping enzyme 1A (sprot)


EMP3_HUMAN Epithelial membrane protein 3 (sprot)


WFDC3_HUMAN WAP four-disulfide core domain protein 3 (sprot)


5HT2A_HUMAN 5-hydroxytryptamine receptor 2A (sprot)


CHST7_HUMAN Carbohydrate sulfotransferase 7 (sprot)


ZN112_HUMAN Zinc finger protein 112 (sprot)


ANM3_HUMAN Protein arginine N-methyltransferase 3 (sprot)


GRPR_HUMAN Gastrin-releasing peptide receptor (sprot)


TXND8_HUMAN Thioredoxin domain-containing protein 8 (sprot)


autosomal dominant intermediate Charcot-Marie-Tooth disease


ALG5_HUMAN Dolichyl-phosphate beta-glucosyltransferase (sprot)


SOX21_HUMAN Transcription factor SOX-21 (sprot)


BCAR3_HUMAN Breast cancer anti-estrogen resistance protein 3 (sprot)


D39U1_HUMAN Epimerase family protein SDR39U1 (sprot)


CC134_HUMAN Coiled-coil domain-containing protein 134 (sprot)


LAS1L_HUMAN Ribosomal biogenesis protein LAS1L (sprot)


ARI3C_HUMAN AT-rich interactive domain-containing protein 3C (sprot)


FGD3_HUMAN FYVE, RhoGEF and PH domain-containing protein 3 (sprot)


DMAP1_HUMAN DNA methyltransferase 1-associated protein 1 (sprot)


NMNA2_HUMAN Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 (sprot)


MEF2C_HUMAN Myocyte-specific enhancer factor 2C (sprot)


GLBL3_HUMAN Beta-galactosidase-1-like protein 3 (sprot)


SMYD1_HUMAN Histone-lysine N-methyltransferase SMYD1 (sprot)


SYF2_HUMAN Pre-mRNA-splicing factor SYF2 (sprot)


COX8C_HUMAN Cytochrome c oxidase subunit 8C, mitochondrial (sprot)


COQ9_HUMAN Ubiquinone biosynthesis protein COQ9, mitochondrial (sprot)


ATL5_HUMAN ADAMTS-like protein 5 (sprot)


RAMP3_HUMAN Receptor activity-modifying protein 3 (sprot)


SP2_HUMAN Transcription factor Sp2 (sprot)


SC6A4_HUMAN Sodium-dependent serotonin transporter (sprot)


TERA_HUMAN Transitional endoplasmic reticulum ATPase (sprot)


T2R31_HUMAN Taste receptor type 2 member 31 (sprot)


ATP6_HUMAN ATP synthase subunit a (sprot)


HRG1_HUMAN Heme transporter HRG1 (sprot)


LHPL5_HUMAN LHFPL tetraspan subfamily member 5 protein (sprot)


PKHA5_HUMAN Pleckstrin homology domain-containing family A member 5 (sprot)


DGCR8_HUMAN Microprocessor complex subunit DGCR8 (sprot)


RL26_HUMAN 60S ribosomal protein L26 (sprot)


AKAP6_HUMAN A-kinase anchor protein 6 (sprot)


CHIA_HUMAN Acidic mammalian chitinase (sprot)


RGAP1_HUMAN Rac GTPase-activating protein 1 (sprot)


PKR1_HUMAN Prokineticin receptor 1 (sprot)


HABP2_HUMAN Hyaluronan-binding protein 2 (sprot)


SENP5_HUMAN Sentrin-specific protease 5 (sprot)


PLPL1_HUMAN Omega-hydroxyceramide transacylase (sprot)


YAF2_HUMAN YY1-associated factor 2 (sprot)


CHK2_HUMAN Serine/threonine-protein kinase Chk2 (sprot)


PK1L1_HUMAN Polycystic kidney disease protein 1-like 1 (sprot)


GSTA2_HUMAN Glutathione S-transferase A2 (sprot)


CERKL_HUMAN Ceramide kinase-like protein (sprot)


ZKSC3_HUMAN Zinc finger protein with KRAB and SCAN domains 3 (sprot)


PHEX_HUMAN Phosphate-regulating neutral endopeptidase PHEX (sprot)


FJX1_HUMAN Four-jointed box protein 1 (sprot)


MAGA2_HUMAN Melanoma-associated antigen 2 (sprot)


T10B_HUMAN Mitochondrial import inner membrane translocase subunit Tim10 B (sprot)


CT451_HUMAN Cancer/testis antigen family 45 member A1 (sprot)


PORED_HUMAN Polyprenol reductase (sprot)


UEVLD_HUMAN Ubiquitin-conjugating enzyme E2 variant 3 (sprot)


PQBP1_HUMAN Polyglutamine-binding protein 1 (sprot)


NOP53_HUMAN Ribosome biogenesis protein NOP53 (sprot)


TNK1_HUMAN Non-receptor tyrosine-protein kinase TNK1 (sprot)


UNK_HUMAN RING finger protein unkempt homolog (sprot)


autoimmune disorder of the nervous system


PDS5B_HUMAN Sister chromatid cohesion protein PDS5 homolog B (sprot)


OTU7B_HUMAN OTU domain-containing protein 7B (sprot)


BBIP1_HUMAN BBSome-interacting protein 1 (sprot)


IFIT3_HUMAN Interferon-induced protein with tetratricopeptide repeats 3 (sprot)


CXCR1_HUMAN C-X-C chemokine receptor type 1 (sprot)


LPD6B_HUMAN Ly6/PLAUR domain-containing protein 6B (sprot)


PPCS_HUMAN Phosphopantothenate--cysteine ligase (sprot)


ICAM2_HUMAN Intercellular adhesion molecule 2 (sprot)


UBP12_HUMAN Ubiquitin carboxyl-terminal hydrolase 12 (sprot)


PSD3_HUMAN PH and SEC7 domain-containing protein 3 (sprot)


UBE2Z_HUMAN Ubiquitin-conjugating enzyme E2 Z (sprot)


NDUS1_HUMAN NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (sprot)


megaconial type congenital muscular dystrophy


POC1B_HUMAN POC1 centriolar protein homolog B (sprot)


FGD4_HUMAN FYVE, RhoGEF and PH domain-containing protein 4 (sprot)


PARP4_HUMAN Protein mono-ADP-ribosyltransferase PARP4 (sprot)


S39AE_HUMAN Metal cation symporter ZIP14 (sprot)


CRBL2_HUMAN cAMP-responsive element-binding protein-like 2 (sprot)


RA51C_HUMAN DNA repair protein RAD51 homolog 3 (sprot)


UBP28_HUMAN Ubiquitin carboxyl-terminal hydrolase 28 (sprot)


B3AT_HUMAN Band 3 anion transport protein (sprot)


RASF7_HUMAN Ras association domain-containing protein 7 (sprot)


RB40B_HUMAN Ras-related protein Rab-40B (sprot)


ZP3_HUMAN Zona pellucida sperm-binding protein 3 (sprot)


RAD9A_HUMAN Cell cycle checkpoint control protein RAD9A (sprot)


PTN5_HUMAN Tyrosine-protein phosphatase non-receptor type 5 (sprot)


FGF21_HUMAN Fibroblast growth factor 21 (sprot)


AGRG7_HUMAN Adhesion G-protein coupled receptor G7 (sprot)


BTBD6_HUMAN BTB/POZ domain-containing protein 6 (sprot)


infective dermatitis associated with HTLV-1


FRMD6_HUMAN FERM domain-containing protein 6 (sprot)


TET5A_HUMAN Terminal nucleotidyltransferase 5A (sprot)


HFM1_HUMAN Probable ATP-dependent DNA helicase HFM1 (sprot)


XRN2_HUMAN 5'-3' exoribonuclease 2 (sprot)


ZNF93_HUMAN Zinc finger protein 93 (sprot)


GTR3_HUMAN Solute carrier family 2, facilitated glucose transporter member 3 (sprot)


P20D1_HUMAN N-fatty-acyl-amino acid synthase/hydrolase PM20D1 (sprot)


BKRB2_HUMAN B2 bradykinin receptor (sprot)


DLGP3_HUMAN Disks large-associated protein 3 (sprot)


LCMT1_HUMAN Leucine carboxyl methyltransferase 1 (sprot)


NAT8L_HUMAN N-acetylaspartate synthetase (sprot)


PDGFA_HUMAN Platelet-derived growth factor subunit A (sprot)


KBTB8_HUMAN Kelch repeat and BTB domain-containing protein 8 (sprot)


FOXP3_HUMAN Forkhead box protein P3 (sprot)


AGRF3_HUMAN Adhesion G-protein coupled receptor F3 (sprot)


LPH_HUMAN Lactase/phlorizin hydrolase (sprot)


GZF1_HUMAN GDNF-inducible zinc finger protein 1 (sprot)


PURA2_HUMAN Adenylosuccinate synthetase isozyme 2 (sprot)


NEC1_HUMAN Neuroendocrine convertase 1 (sprot)


ERCC8_HUMAN DNA excision repair protein ERCC-8 (sprot)


KLD10_HUMAN Kelch domain-containing protein 10 (sprot)


TPPC9_HUMAN Trafficking protein particle complex subunit 9 (sprot)


IGDC4_HUMAN Immunoglobulin superfamily DCC subclass member 4 (sprot)


GRIK2_HUMAN Glutamate receptor ionotropic, kainate 2 (sprot)


HIPK1_HUMAN Homeodomain-interacting protein kinase 1 (sprot)


SMYD4_HUMAN SET and MYND domain-containing protein 4 (sprot)


IDD_HUMAN Integral membrane protein DGCR2/IDD (sprot)


CDKAL_HUMAN Threonylcarbamoyladenosine tRNA methylthiotransferase (sprot)


autosomal dominant distal hereditary motor neuropathy


qualitative or quantitative defects of dysferlin


K1C18_HUMAN Keratin, type I cytoskeletal 18 (sprot)


SAMD9_HUMAN Sterile alpha motif domain-containing protein 9 (sprot)


ALG2-congenital disorder of glycosylation


SLIK6_HUMAN SLIT and NTRK-like protein 6 (sprot)


PPE2_HUMAN Serine/threonine-protein phosphatase with EF-hands 2 (sprot)


S45A1_HUMAN Proton-associated sugar transporter A (sprot)


TPRGL_HUMAN Tumor protein p63-regulated gene 1-like protein (sprot)


BAG5_HUMAN BAG family molecular chaperone regulator 5 (sprot)


Ethanaminium, 2-((hydroxy((18-(4-(iodo-131I)phenyl)octadecyl)oxy)phosphinyl)oxy)-N,N,N-trimethyl-, inner salt


ACHA3_HUMAN Neuronal acetylcholine receptor subunit alpha-3 (sprot)


KCNN4_HUMAN Intermediate conductance calcium-activated potassium channel protein 4 (sprot)


X-linked syndromic intellectual disability


MARH1_HUMAN E3 ubiquitin-protein ligase MARCHF1 (sprot)


MTD2L_HUMAN Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial (sprot)


ORN_HUMAN Oligoribonuclease, mitochondrial (sprot)


NRBP2_HUMAN Nuclear receptor-binding protein 2 (sprot)


PHS2_HUMAN Pterin-4-alpha-carbinolamine dehydratase 2 (sprot)


light and heavy chain deposition disease


S39AD_HUMAN Zinc transporter ZIP13 (sprot)


ID2_HUMAN DNA-binding protein inhibitor ID-2 (sprot)


TAF6_HUMAN Transcription initiation factor TFIID subunit 6 (sprot)


HCAR3_HUMAN Hydroxycarboxylic acid receptor 3 (sprot)


PO6F1_HUMAN POU domain, class 6, transcription factor 1 (sprot)


PIEZ1_HUMAN Piezo-type mechanosensitive ion channel component 1 (sprot)


GHR_HUMAN Growth hormone receptor (sprot)


S22AD_HUMAN Solute carrier family 22 member 13 (sprot)


S52A1_HUMAN Solute carrier family 52, riboflavin transporter, member 1 (sprot)


TS101_HUMAN Tumor susceptibility gene 101 protein (sprot)


QCR6_HUMAN Cytochrome b-c1 complex subunit 6, mitochondrial (sprot)


GAS6_HUMAN Growth arrest-specific protein 6 (sprot)


GRIK5_HUMAN Glutamate receptor ionotropic, kainate 5 (sprot)


neonatal ichthyosis-sclerosing cholangitis syndrome


ASB8_HUMAN Ankyrin repeat and SOCS box protein 8 (sprot)


GPAT1_HUMAN Glycerol-3-phosphate acyltransferase 1, mitochondrial (sprot)


NTM2B_HUMAN NUT family member 2B (sprot)


PUR6_HUMAN Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase (sprot)


SRSF9_HUMAN Serine/arginine-rich splicing factor 9 (sprot)


PCDG7_HUMAN Protocadherin gamma-A7 (sprot)


HEAT1_HUMAN HEAT repeat-containing protein 1 (sprot)


GILT_HUMAN Gamma-interferon-inducible lysosomal thiol reductase (sprot)


RAB35_HUMAN Ras-related protein Rab-35 (sprot)


short-rib thoracic dysplasia 7 with or without polydactyly


ECE1_HUMAN Endothelin-converting enzyme 1 (sprot)


ZFHX4_HUMAN Zinc finger homeobox protein 4 (sprot)


BMP4_HUMAN Bone morphogenetic protein 4 (sprot)


facioscapulohumeral muscular dystrophy 1


AL4A1_HUMAN Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (sprot)


IP6K3_HUMAN Inositol hexakisphosphate kinase 3 (sprot)


ADCY5_HUMAN Adenylate cyclase type 5 (sprot)


SCNNA_HUMAN Amiloride-sensitive sodium channel subunit alpha (sprot)


FRS3_HUMAN Fibroblast growth factor receptor substrate 3 (sprot)


MLH3_HUMAN DNA mismatch repair protein Mlh3 (sprot)


DHX15_HUMAN ATP-dependent RNA helicase DHX15 (sprot)


PPR3A_HUMAN Protein phosphatase 1 regulatory subunit 3A (sprot)


T2R43_HUMAN Taste receptor type 2 member 43 (sprot)


M3K10_HUMAN Mitogen-activated protein kinase kinase kinase 10 (sprot)


TM192_HUMAN Transmembrane protein 192 (sprot)


ETHE1_HUMAN Persulfide dioxygenase ETHE1, mitochondrial (sprot)


TM9S2_HUMAN Transmembrane 9 superfamily member 2 (sprot)


MED21_HUMAN Mediator of RNA polymerase II transcription subunit 21 (sprot)


G137B_HUMAN Integral membrane protein GPR137B (sprot)


Disodium ascorbyl phytostanol phosphates


S1PR3_HUMAN Sphingosine 1-phosphate receptor 3 (sprot)


PSG8_HUMAN Pregnancy-specific beta-1-glycoprotein 8 (sprot)


EAA5_HUMAN Excitatory amino acid transporter 5 (sprot)


KCNV2_HUMAN Potassium voltage-gated channel subfamily V member 2 (sprot)


PSG6_HUMAN Pregnancy-specific beta-1-glycoprotein 6 (sprot)


FUCO_HUMAN Tissue alpha-L-fucosidase (sprot)


HMGB2_HUMAN High mobility group protein B2 (sprot)


CSRP3_HUMAN Cysteine and glycine-rich protein 3 (sprot)


SARAF_HUMAN Store-operated calcium entry-associated regulatory factor (sprot)


ACBG2_HUMAN Long-chain-fatty-acid--CoA ligase ACSBG2 (sprot)


MAGAC_HUMAN Melanoma-associated antigen 12 (sprot)


SRSF6_HUMAN Serine/arginine-rich splicing factor 6 (sprot)


PGAP3_HUMAN Post-GPI attachment to proteins factor 3 (sprot)


pulmonary type ovarian small cell carcinoma


RN128_HUMAN E3 ubiquitin-protein ligase RNF128 (sprot)


IF1AX_HUMAN Eukaryotic translation initiation factor 1A, X-chromosomal (sprot)


KCTD3_HUMAN BTB/POZ domain-containing protein KCTD3 (sprot)


SMOC1_HUMAN SPARC-related modular calcium-binding protein 1 (sprot)


KC1G2_HUMAN Casein kinase I isoform gamma-2 (sprot)


GFPT1_HUMAN Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 (sprot)


RL4_HUMAN 60S ribosomal protein L4 (sprot)


ISX_HUMAN Intestine-specific homeobox (sprot)


HSP7E_HUMAN Heat shock 70 kDa protein 14 (sprot)


ENASE_HUMAN Cytosolic endo-beta-N-acetylglucosaminidase (sprot)


DDX17_HUMAN Probable ATP-dependent RNA helicase DDX17 (sprot)


PPM1E_HUMAN Protein phosphatase 1E (sprot)


PO2F2_HUMAN POU domain, class 2, transcription factor 2 (sprot)


MTR1B_HUMAN Melatonin receptor type 1B (sprot)


APBB1_HUMAN Amyloid beta precursor protein binding family B member 1 (sprot)


MEGF8_HUMAN Multiple epidermal growth factor-like domains protein 8 (sprot)


OMP_HUMAN Olfactory marker protein (sprot)


PPE1_HUMAN Serine/threonine-protein phosphatase with EF-hands 1 (sprot)


ZN687_HUMAN Zinc finger protein 687 (sprot)


ZSC25_HUMAN Zinc finger and SCAN domain-containing protein 25 (sprot)


CCBE1_HUMAN Collagen and calcium-binding EGF domain-containing protein 1 (sprot)


PRDM8_HUMAN PR domain zinc finger protein 8 (sprot)


JAK1_HUMAN Tyrosine-protein kinase JAK1 (sprot)


DNJA4_HUMAN DnaJ homolog subfamily A member 4 (sprot)


IMA7_HUMAN Importin subunit alpha-7 (sprot)


RSPRY_HUMAN RING finger and SPRY domain-containing protein 1 (sprot)


MTUS1_HUMAN Microtubule-associated tumor suppressor 1 (sprot)


FGL1_HUMAN Fibrinogen-like protein 1 (sprot)


PYGM_HUMAN Glycogen phosphorylase, muscle form (sprot)


MSHR_HUMAN Melanocyte-stimulating hormone receptor (sprot)


SH22A_HUMAN SH2 domain-containing protein 2A (sprot)


helicoid peripapillary chorioretinal degeneration


SIR6_HUMAN NAD-dependent protein deacylase sirtuin-6 (sprot)


MEGF6_HUMAN Multiple epidermal growth factor-like domains protein 6 (sprot)


methicillin-resistant staphylococcus aureus infectious disease


epilepsy, partial, with pericentral spikes


GRP2_HUMAN RAS guanyl-releasing protein 2 (sprot)


circadian rhythm sleep disorder, advanced sleep phase type


NPA1P_HUMAN Nucleolar pre-ribosomal-associated protein 1 (sprot)


intellectual disability-sparse hair-brachydactyly syndrome


RPA2_HUMAN DNA-directed RNA polymerase I subunit RPA2 (sprot)


SYTL5_HUMAN Synaptotagmin-like protein 5 (sprot)


PAGR1_HUMAN PAXIP1-associated glutamate-rich protein 1 (sprot)


RHG39_HUMAN Rho GTPase-activating protein 39 (sprot)


KPRB_HUMAN Phosphoribosyl pyrophosphate synthase-associated protein 2 (sprot)


PGPS1_HUMAN CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial (sprot)


THIL_HUMAN Acetyl-CoA acetyltransferase, mitochondrial (sprot)


CPSF4_HUMAN Cleavage and polyadenylation specificity factor subunit 4 (sprot)


XRCC4_HUMAN DNA repair protein XRCC4 (sprot)


MIT family translocation renal cell carcinoma


SC5A7_HUMAN High affinity choline transporter 1 (sprot)


SL9A7_HUMAN Sodium/hydrogen exchanger 7 (sprot)


TSG13_HUMAN Testis-specific gene 13 protein (sprot)


LIRA5_HUMAN Leukocyte immunoglobulin-like receptor subfamily A member 5 (sprot)


TULP3_HUMAN Tubby-related protein 3 (sprot)


CRUM3_HUMAN Protein crumbs homolog 3 (sprot)


purified protein derivative of tuberculin


DAPK2_HUMAN Death-associated protein kinase 2 (sprot)


LARP4_HUMAN La-related protein 4 (sprot)


MTA3_HUMAN Metastasis-associated protein MTA3 (sprot)


MA1A2_HUMAN Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB (sprot)


TBCD4_HUMAN TBC1 domain family member 4 (sprot)


TRIPB_HUMAN Thyroid receptor-interacting protein 11 (sprot)


ILDR2_HUMAN Immunoglobulin-like domain-containing receptor 2 (sprot)


B3GN5_HUMAN Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase (sprot)


ATP5S_HUMAN ATP synthase subunit s, mitochondrial (sprot)


DAPK3_HUMAN Death-associated protein kinase 3 (sprot)


autosomal dominant nonsyndromic hearing loss 1


hypopigmentation-punctate palmoplantar keratoderma syndrome


SNF8_HUMAN Vacuolar-sorting protein SNF8 (sprot)


central nervous system infectious disorder


GNAT1_HUMAN Guanine nucleotide-binding protein G(t) subunit alpha-1 (sprot)


HYPK_HUMAN Huntingtin-interacting protein K (sprot)


DCUP_HUMAN Uroporphyrinogen decarboxylase (sprot)


EYA2_HUMAN Eyes absent homolog 2 (sprot)


LRRT1_HUMAN Leucine-rich repeat transmembrane neuronal protein 1 (sprot)


NKX11_HUMAN NK1 transcription factor-related protein 1 (sprot)


RIOK3_HUMAN Serine/threonine-protein kinase RIO3 (sprot)


KCNG1_HUMAN Potassium voltage-gated channel subfamily G member 1 (sprot)


ZN346_HUMAN Zinc finger protein 346 (sprot)


ATL4_HUMAN ADAMTS-like protein 4 (sprot)


GFI1B_HUMAN Zinc finger protein Gfi-1b (sprot)


C1QR1_HUMAN Complement component C1q receptor (sprot)


mesoaxial synostotic syndactyly with phalangeal reduction


AFAP1_HUMAN Actin filament-associated protein 1 (sprot)


G3ST1_HUMAN Galactosylceramide sulfotransferase (sprot)


DEN1B_HUMAN DENN domain-containing protein 1B (sprot)


RABE2_HUMAN Rab GTPase-binding effector protein 2 (sprot)


LMF1_HUMAN Lipase maturation factor 1 (sprot)


GBRL1_HUMAN Gamma-aminobutyric acid receptor-associated protein-like 1 (sprot)


UBE2A_HUMAN Ubiquitin-conjugating enzyme E2 A (sprot)


GPR63_HUMAN Probable G-protein coupled receptor 63 (sprot)


ZN606_HUMAN Zinc finger protein 606 (sprot)


SSBP_HUMAN Single-stranded DNA-binding protein, mitochondrial (sprot)


PM34_HUMAN Peroxisomal membrane protein PMP34 (sprot)


ST4A1_HUMAN Sulfotransferase 4A1 (sprot)


HSF2_HUMAN Heat shock factor protein 2 (sprot)


GOLI4_HUMAN Golgi integral membrane protein 4 (sprot)


RTEL1_HUMAN Regulator of telomere elongation helicase 1 (sprot)


GLPK5_HUMAN Putative glycerol kinase 5 (sprot)


systemic primary carnitine deficiency disease


RBL1_HUMAN Retinoblastoma-like protein 1 (sprot)


ACL6A_HUMAN Actin-like protein 6A (sprot)