S35G3_HUMAN Solute carrier family 35 member G3 (sprot)


LIN9_HUMAN Protein lin-9 homolog (sprot)


RAE2_HUMAN Rab proteins geranylgeranyltransferase component A 2 (sprot)


ODPAT_HUMAN Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial (sprot)


VDAC1_HUMAN Voltage-dependent anion-selective channel protein 1 (sprot)


LYOX_HUMAN Protein-lysine 6-oxidase (sprot)


AN13A_HUMAN Ankyrin repeat domain-containing protein 13A (sprot)


SRPX_HUMAN Sushi repeat-containing protein SRPX (sprot)


PDCD4_HUMAN Programmed cell death protein 4 (sprot)


NAL11_HUMAN NACHT, LRR and PYD domains-containing protein 11 (sprot)


NT5D1_HUMAN 5'-nucleotidase domain-containing protein 1 (sprot)


GPA33_HUMAN Cell surface A33 antigen (sprot)


CHMP5_HUMAN Charged multivesicular body protein 5 (sprot)


GNA12_HUMAN Guanine nucleotide-binding protein subunit alpha-12 (sprot)


RSMN_HUMAN Small nuclear ribonucleoprotein-associated protein N (sprot)


Cushing disease due to pituitary adenoma


DUS10_HUMAN Dual specificity protein phosphatase 10 (sprot)


short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome


MBD2_HUMAN Methyl-CpG-binding domain protein 2 (sprot)


SL9A3_HUMAN Sodium/hydrogen exchanger 3 (sprot)


MRTFB_HUMAN Myocardin-related transcription factor B (sprot)


MEF2B_HUMAN Myocyte-specific enhancer factor 2B (sprot)


PVRIG_HUMAN Transmembrane protein PVRIG (sprot)


KIF6_HUMAN Kinesin-like protein KIF6 (sprot)


EIPR1_HUMAN EARP and GARP complex-interacting protein 1 (sprot)


DYR_HUMAN Dihydrofolate reductase (sprot)


A1AG2_HUMAN Alpha-1-acid glycoprotein 2 (sprot)


CX6B2_HUMAN Cytochrome c oxidase subunit 6B2 (sprot)


FARP2_HUMAN FERM, ARHGEF and pleckstrin domain-containing protein 2 (sprot)


HNRLL_HUMAN Heterogeneous nuclear ribonucleoprotein L-like (sprot)


LDLR_HUMAN Low-density lipoprotein receptor (sprot)


IMA5_HUMAN Importin subunit alpha-5 (sprot)


S38A8_HUMAN Putative sodium-coupled neutral amino acid transporter 8 (sprot)


FAKD3_HUMAN FAST kinase domain-containing protein 3, mitochondrial (sprot)


XXLT1_HUMAN Xyloside xylosyltransferase 1 (sprot)


DYH9_HUMAN Dynein axonemal heavy chain 9 (sprot)


RERE_HUMAN Arginine-glutamic acid dipeptide repeats protein (sprot)


NRCAM_HUMAN Neuronal cell adhesion molecule (sprot)


SAFB1_HUMAN Scaffold attachment factor B1 (sprot)


OTX2_HUMAN Homeobox protein OTX2 (sprot)


RFWD3_HUMAN E3 ubiquitin-protein ligase RFWD3 (sprot)


GRIA1_HUMAN Glutamate receptor 1 (sprot)


STIL_HUMAN SCL-interrupting locus protein (sprot)


FUBP2_HUMAN Far upstream element-binding protein 2 (sprot)


WWP2_HUMAN NEDD4-like E3 ubiquitin-protein ligase WWP2 (sprot)


O10G2_HUMAN Olfactory receptor 10G2 (sprot)


SL9A5_HUMAN Sodium/hydrogen exchanger 5 (sprot)


GUC2D_HUMAN Retinal guanylyl cyclase 1 (sprot)


CXB2_HUMAN Gap junction beta-2 protein (sprot)


EDAR_HUMAN Tumor necrosis factor receptor superfamily member EDAR (sprot)


MTAP_HUMAN S-methyl-5'-thioadenosine phosphorylase (sprot)


KCD20_HUMAN BTB/POZ domain-containing protein KCTD20 (sprot)


SYAM_HUMAN Alanine--tRNA ligase, mitochondrial (sprot)


GAPD1_HUMAN GTPase-activating protein and VPS9 domain-containing protein 1 (sprot)


NEK4_HUMAN Serine/threonine-protein kinase Nek4 (sprot)


KLRD1_HUMAN Natural killer cells antigen CD94 (sprot)


BMS1_HUMAN Ribosome biogenesis protein BMS1 homolog (sprot)


PSMG1_HUMAN Proteasome assembly chaperone 1 (sprot)


S14L4_HUMAN SEC14-like protein 4 (sprot)


PHLB1_HUMAN Pleckstrin homology-like domain family B member 1 (sprot)


PPCEL_HUMAN Prolyl endopeptidase-like (sprot)


KLHL5_HUMAN Kelch-like protein 5 (sprot)


CEP63_HUMAN Centrosomal protein of 63 kDa (sprot)


F149B_HUMAN Primary cilium assembly protein FAM149B1 (sprot)


TLK2_HUMAN Serine/threonine-protein kinase tousled-like 2 (sprot)


ZDH17_HUMAN Palmitoyltransferase ZDHHC17 (sprot)


ZFP30_HUMAN Zinc finger protein 30 homolog (sprot)


ACM2_HUMAN Muscarinic acetylcholine receptor M2 (sprot)


NPTX2_HUMAN Neuronal pentraxin-2 (sprot)


TM204_HUMAN Transmembrane protein 204 (sprot)


CLC4M_HUMAN C-type lectin domain family 4 member M (sprot)


K1C9_HUMAN Keratin, type I cytoskeletal 9 (sprot)


MITD1_HUMAN MIT domain-containing protein 1 (sprot)


OGFR_HUMAN Opioid growth factor receptor (sprot)


Trichoderma harzianum allergenic extract


ACV1C_HUMAN Activin receptor type-1C (sprot)


breast fibrocystic change, proliferative type


ZF64B_HUMAN Zinc finger protein 64 (sprot)


LRAD3_HUMAN Low-density lipoprotein receptor class A domain-containing protein 3 (sprot)


PIN4_HUMAN Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 (sprot)


SMAD7_HUMAN Mothers against decapentaplegic homolog 7 (sprot)


RHOB_HUMAN Rho-related GTP-binding protein RhoB (sprot)


UBE4A_HUMAN Ubiquitin conjugation factor E4 A (sprot)


KLHL3_HUMAN Kelch-like protein 3 (sprot)


LRC23_HUMAN Leucine-rich repeat-containing protein 23 (sprot)


CPT1C_HUMAN Carnitine O-palmitoyltransferase 1, brain isoform (sprot)


SAA4_HUMAN Serum amyloid A-4 protein (sprot)


BL1S2_HUMAN Biogenesis of lysosome-related organelles complex 1 subunit 2 (sprot)


TAF1_HUMAN Transcription initiation factor TFIID subunit 1 (sprot)


SMAD4_HUMAN Mothers against decapentaplegic homolog 4 (sprot)


CDC7_HUMAN Cell division cycle 7-related protein kinase (sprot)


SYWM_HUMAN Tryptophan--tRNA ligase, mitochondrial (sprot)


SIA8A_HUMAN Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase (sprot)


GSK3B_HUMAN Glycogen synthase kinase-3 beta (sprot)


TP53B_HUMAN TP53-binding protein 1 (sprot)


NR1I3_HUMAN Nuclear receptor subfamily 1 group I member 3 (sprot)


PREP_HUMAN Presequence protease, mitochondrial (sprot)


PDX1_HUMAN Pancreas/duodenum homeobox protein 1 (sprot)


RB22A_HUMAN Ras-related protein Rab-22A (sprot)


ADCY2_HUMAN Adenylate cyclase type 2 (sprot)


familial encephalopathy with neuroserpin inclusion bodies


CGT_HUMAN 2-hydroxyacylsphingosine 1-beta-galactosyltransferase (sprot)


CHSTC_HUMAN Carbohydrate sulfotransferase 12 (sprot)


AMELX_HUMAN Amelogenin, X isoform (sprot)


MTMR8_HUMAN Myotubularin-related protein 8 (sprot)


CXB6_HUMAN Gap junction beta-6 protein (sprot)


TMX1_HUMAN Thioredoxin-related transmembrane protein 1 (sprot)


SPZ1_HUMAN Spermatogenic leucine zipper protein 1 (sprot)


AIP_HUMAN AH receptor-interacting protein (sprot)


PIDD1_HUMAN p53-induced death domain-containing protein 1 (sprot)


SF3B3_HUMAN Splicing factor 3B subunit 3 (sprot)


AP2B1_HUMAN AP-2 complex subunit beta (sprot)


CACB4_HUMAN Voltage-dependent L-type calcium channel subunit beta-4 (sprot)


KPB1_HUMAN Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform (sprot)


GLD2_HUMAN Poly(A) RNA polymerase GLD2 (sprot)


TBCD1_HUMAN TBC1 domain family member 1 (sprot)


ocular albinism with late-onset sensorineural deafness


BAZ2B_HUMAN Bromodomain adjacent to zinc finger domain protein 2B (sprot)


RN183_HUMAN E3 ubiquitin-protein ligase RNF183 (sprot)


SSR4_HUMAN Somatostatin receptor type 4 (sprot)


IL4RA_HUMAN Interleukin-4 receptor subunit alpha (sprot)


KS6B1_HUMAN Ribosomal protein S6 kinase beta-1 (sprot)


FBX44_HUMAN F-box only protein 44 (sprot)


CCR9_HUMAN C-C chemokine receptor type 9 (sprot)


ABC3H_HUMAN DNA dC->dU-editing enzyme APOBEC-3H (sprot)


ABEC2_HUMAN C->U-editing enzyme APOBEC-2 (sprot)


multicentric osteolysis, nodulosis, and arthropathy


EI2BD_HUMAN Translation initiation factor eIF-2B subunit delta (sprot)


ATS8_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 8 (sprot)


CNTFR_HUMAN Ciliary neurotrophic factor receptor subunit alpha (sprot)


MRP2_HUMAN ATP-binding cassette sub-family C member 2 (sprot)


SV2A_HUMAN Synaptic vesicle glycoprotein 2A (sprot)


NADL2_HUMAN Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 (sprot)


ACMSD_HUMAN 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase (sprot)


PCYOX_HUMAN Prenylcysteine oxidase 1 (sprot)


LIPS_HUMAN Hormone-sensitive lipase (sprot)


GNAT2_HUMAN Guanine nucleotide-binding protein G(t) subunit alpha-2 (sprot)


NCF2_HUMAN Neutrophil cytosol factor 2 (sprot)


SMOC2_HUMAN SPARC-related modular calcium-binding protein 2 (sprot)


RFIP5_HUMAN Rab11 family-interacting protein 5 (sprot)


PABP4_HUMAN Polyadenylate-binding protein 4 (sprot)


KCNKA_HUMAN Potassium channel subfamily K member 10 (sprot)


MOK_HUMAN MAPK/MAK/MRK overlapping kinase (sprot)


HAOX2_HUMAN 2-Hydroxyacid oxidase 2 (sprot)


RASA2_HUMAN Ras GTPase-activating protein 2 (sprot)


ASB3_HUMAN Ankyrin repeat and SOCS box protein 3 (sprot)


PP13_HUMAN Galactoside-binding soluble lectin 13 (sprot)


TRI23_HUMAN E3 ubiquitin-protein ligase TRIM23 (sprot)


MTUS2_HUMAN Microtubule-associated tumor suppressor candidate 2 (sprot)


COX1_HUMAN Cytochrome c oxidase subunit 1 (sprot)


HEXB_HUMAN Beta-hexosaminidase subunit beta (sprot)


ADH4_HUMAN All-trans-retinol dehydrogenase [NAD(+)] ADH4 (sprot)


COGA1_HUMAN Collagen alpha-1(XVI) chain (sprot)


OTUB2_HUMAN Ubiquitin thioesterase OTUB2 (sprot)


CTBP1_HUMAN C-terminal-binding protein 1 (sprot)


NSD2_HUMAN Histone-lysine N-methyltransferase NSD2 (sprot)


estrogen-receptor positive breast cancer


Hirschsprung disease, cardiac defects, and autonomic dysfunction


C2D1B_HUMAN Coiled-coil and C2 domain-containing protein 1B (sprot)


PPR3D_HUMAN Protein phosphatase 1 regulatory subunit 3D (sprot)


FXL17_HUMAN F-box/LRR-repeat protein 17 (sprot)


B3A2_HUMAN Anion exchange protein 2 (sprot)


T-B+ severe combined immunodeficiency due to CD45 deficiency


CPSM_HUMAN Carbamoyl-phosphate synthase [ammonia], mitochondrial (sprot)


ZBT42_HUMAN Zinc finger and BTB domain-containing protein 42 (sprot)


ABHD6_HUMAN Monoacylglycerol lipase ABHD6 (sprot)


TLX2_HUMAN T-cell leukemia homeobox protein 2 (sprot)


KPCL_HUMAN Protein kinase C eta type (sprot)


CRNS1_HUMAN Carnosine synthase 1 (sprot)


FGFR4_HUMAN Fibroblast growth factor receptor 4 (sprot)


RPB9_HUMAN DNA-directed RNA polymerase II subunit RPB9 (sprot)


POC5_HUMAN Centrosomal protein POC5 (sprot)


GPR15_HUMAN G-protein coupled receptor 15 (sprot)


WDR48_HUMAN WD repeat-containing protein 48 (sprot)


PIEZ2_HUMAN Piezo-type mechanosensitive ion channel component 2 (sprot)


ROBO2_HUMAN Roundabout homolog 2 (sprot)


B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma


STEA2_HUMAN Metalloreductase STEAP2 (sprot)


NBR1_HUMAN Next to BRCA1 gene 1 protein (sprot)


JIP4_HUMAN C-Jun-amino-terminal kinase-interacting protein 4 (sprot)


TRPS1_HUMAN Zinc finger transcription factor Trps1 (sprot)


MP2K6_HUMAN Dual specificity mitogen-activated protein kinase kinase 6 (sprot)


OTU1_HUMAN Ubiquitin thioesterase OTU1 (sprot)


familial hemophagocytic lymphohistiocytosis 4


NEK3_HUMAN Serine/threonine-protein kinase Nek3 (sprot)


NMNA3_HUMAN Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 (sprot)


AL1L2_HUMAN Mitochondrial 10-formyltetrahydrofolate dehydrogenase (sprot)


SLAF9_HUMAN SLAM family member 9 (sprot)


SMIM3_HUMAN Small integral membrane protein 3 (sprot)


RGF1B_HUMAN Ras-GEF domain-containing family member 1B (sprot)


childhood epilepsy with centrotemporal spikes


AA3R_HUMAN Adenosine receptor A3 (sprot)


CCNB1_HUMAN G2/mitotic-specific cyclin-B1 (sprot)


TSYL6_HUMAN Testis-specific Y-encoded-like protein 6 (sprot)


ZFHX2_HUMAN Zinc finger homeobox protein 2 (sprot)


LRC55_HUMAN Leucine-rich repeat-containing protein 55 (sprot)


MK10_HUMAN Mitogen-activated protein kinase 10 (sprot)


SSR5_HUMAN Somatostatin receptor type 5 (sprot)


GNPAT_HUMAN Dihydroxyacetone phosphate acyltransferase (sprot)


AGFG1_HUMAN Arf-GAP domain and FG repeat-containing protein 1 (sprot)


LRRC2_HUMAN Leucine-rich repeat-containing protein 2 (sprot)


SOCS2_HUMAN Suppressor of cytokine signaling 2 (sprot)


HAIR_HUMAN Lysine-specific demethylase hairless (sprot)


KGP1_HUMAN cGMP-dependent protein kinase 1 (sprot)


RNF5_HUMAN E3 ubiquitin-protein ligase RNF5 (sprot)


TCPA_HUMAN T-complex protein 1 subunit alpha (sprot)


ASPC1_HUMAN Tether containing UBX domain for GLUT4 (sprot)


IP3KB_HUMAN Inositol-trisphosphate 3-kinase B (sprot)


S39A9_HUMAN Zinc transporter ZIP9 (sprot)


FOXD4_HUMAN Forkhead box protein D4 (sprot)


RBM3_HUMAN RNA-binding protein 3 (sprot)


ADAM7_HUMAN Disintegrin and metalloproteinase domain-containing protein 7 (sprot)


ETV3_HUMAN ETS translocation variant 3 (sprot)


RAD52_HUMAN DNA repair protein RAD52 homolog (sprot)


UB2D4_HUMAN Ubiquitin-conjugating enzyme E2 D4 (sprot)


TMED2_HUMAN Transmembrane emp24 domain-containing protein 2 (sprot)


LHPL4_HUMAN LHFPL tetraspan subfamily member 4 protein (sprot)


SIG16_HUMAN Sialic acid-binding Ig-like lectin 16 (sprot)


TNNT1_HUMAN Troponin T, slow skeletal muscle (sprot)


EFMT1_HUMAN EEF1A lysine methyltransferase 1 (sprot)


I20RA_HUMAN Interleukin-20 receptor subunit alpha (sprot)


DBR1_HUMAN Lariat debranching enzyme (sprot)


KIF1C_HUMAN Kinesin-like protein KIF1C (sprot)


VRK2_HUMAN Serine/threonine-protein kinase VRK2 (sprot)


AT131_HUMAN Endoplasmic reticulum transmembrane helix translocase (sprot)


CREST_HUMAN Calcium-responsive transactivator (sprot)


SYAP1_HUMAN Synapse-associated protein 1 (sprot)


T132E_HUMAN Transmembrane protein 132E (sprot)


developmental defect during embryogenesis


ZDBF2_HUMAN DBF4-type zinc finger-containing protein 2 (sprot)


DEGS1_HUMAN Sphingolipid delta(4)-desaturase DES1 (sprot)


NIPBL_HUMAN Nipped-B-like protein (sprot)


OXND1_HUMAN Oxidoreductase NAD-binding domain-containing protein 1 (sprot)


ST2B1_HUMAN Sulfotransferase 2B1 (sprot)


SNAI3_HUMAN Zinc finger protein SNAI3 (sprot)


PANO1_HUMAN Proapoptotic nucleolar protein 1 (sprot)


NALCN_HUMAN Sodium leak channel NALCN (sprot)


RS28_HUMAN 40S ribosomal protein S28 (sprot)


chronic recurrent multifocal osteomyelitis


NPY5R_HUMAN Neuropeptide Y receptor type 5 (sprot)


Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type


congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency


MECP2_HUMAN Methyl-CpG-binding protein 2 (sprot)


squamous cell carcinoma of buccal mucosa


BIG2_HUMAN Brefeldin A-inhibited guanine nucleotide-exchange protein 2 (sprot)


FOXJ3_HUMAN Forkhead box protein J3 (sprot)


S27A3_HUMAN Long-chain fatty acid transport protein 3 (sprot)


COPB2_HUMAN Coatomer subunit beta' (sprot)


STML2_HUMAN Stomatin-like protein 2, mitochondrial (sprot)


AT7L1_HUMAN Ataxin-7-like protein 1 (sprot)


SIX2_HUMAN Homeobox protein SIX2 (sprot)


posterior polymorphous corneal dystrophy


ACBG1_HUMAN Long-chain-fatty-acid--CoA ligase ACSBG1 (sprot)


NKAI2_HUMAN Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 (sprot)


BBX_HUMAN HMG box transcription factor BBX (sprot)


non-arteritic anterior ischemic optic neuropathy


GCKR_HUMAN Glucokinase regulatory protein (sprot)


RL9_HUMAN 60S ribosomal protein L9 (sprot)


TMX4_HUMAN Thioredoxin-related transmembrane protein 4 (sprot)


UBL4A_HUMAN Ubiquitin-like protein 4A (sprot)


CHM4A_HUMAN Charged multivesicular body protein 4a (sprot)


SRBS2_HUMAN Sorbin and SH3 domain-containing protein 2 (sprot)


NTM2A_HUMAN NUT family member 2A (sprot)


PRD12_HUMAN PR domain zinc finger protein 12 (sprot)


AP4B1_HUMAN AP-4 complex subunit beta-1 (sprot)


KLD8B_HUMAN Kelch domain-containing protein 8B (sprot)


GARE1_HUMAN GRB2-associated and regulator of MAPK protein 1 (sprot)


TXNIP_HUMAN Thioredoxin-interacting protein (sprot)


DSCAM_HUMAN Cell adhesion molecule DSCAM (sprot)


TIM50_HUMAN Mitochondrial import inner membrane translocase subunit TIM50 (sprot)


COX42_HUMAN Cytochrome c oxidase subunit 4 isoform 2, mitochondrial (sprot)


Trichophyton schoenleinii allergenic extract


DYR1A_HUMAN Dual specificity tyrosine-phosphorylation-regulated kinase 1A (sprot)


CH3L2_HUMAN Chitinase-3-like protein 2 (sprot)


DAPK1_HUMAN Death-associated protein kinase 1 (sprot)


PHIP_HUMAN PH-interacting protein (sprot)


MAGA8_HUMAN Melanoma-associated antigen 8 (sprot)


GRIA2_HUMAN Glutamate receptor 2 (sprot)


SOS2_HUMAN Son of sevenless homolog 2 (sprot)


PHOP1_HUMAN Phosphoethanolamine/phosphocholine phosphatase (sprot)


ACADL_HUMAN Long-chain specific acyl-CoA dehydrogenase, mitochondrial (sprot)


KLF17_HUMAN Krueppel-like factor 17 (sprot)


ARF6_HUMAN ADP-ribosylation factor 6 (sprot)


BAP31_HUMAN B-cell receptor-associated protein 31 (sprot)


ARHGG_HUMAN Rho guanine nucleotide exchange factor 16 (sprot)


RGSL_HUMAN Regulator of G-protein signaling protein-like (sprot)


MZT1_HUMAN Mitotic-spindle organizing protein 1 (sprot)


CSDE1_HUMAN Cold shock domain-containing protein E1 (sprot)


EWS_HUMAN RNA-binding protein EWS (sprot)


TOM34_HUMAN Mitochondrial import receptor subunit TOM34 (sprot)


BAGE2_HUMAN B melanoma antigen 2 (sprot)


GSTA1_HUMAN Glutathione S-transferase A1 (sprot)


mature T-cell and NK-cell non-Hodgkin lymphoma


AUNIP_HUMAN Aurora kinase A and ninein-interacting protein (sprot)


PCKGC_HUMAN Phosphoenolpyruvate carboxykinase, cytosolic [GTP] (sprot)


BLID_HUMAN BH3-like motif-containing cell death inducer (sprot)


KIF1B_HUMAN Kinesin-like protein KIF1B (sprot)


XYLT1_HUMAN Xylosyltransferase 1 (sprot)


TOP1M_HUMAN DNA topoisomerase I, mitochondrial (sprot)


EPN4_HUMAN Clathrin interactor 1 (sprot)


VPS53_HUMAN Vacuolar protein sorting-associated protein 53 homolog (sprot)


THIOM_HUMAN Thioredoxin, mitochondrial (sprot)


AUXI_HUMAN Putative tyrosine-protein phosphatase auxilin (sprot)


HUS1B_HUMAN Checkpoint protein HUS1B (sprot)


S41A1_HUMAN Solute carrier family 41 member 1 (sprot)


SEC62_HUMAN Translocation protein SEC62 (sprot)


congenital hereditary endothelial dystrophy of cornea


ZIC2_HUMAN Zinc finger protein ZIC 2 (sprot)


ZN622_HUMAN Cytoplasmic 60S subunit biogenesis factor ZNF622 (sprot)


LRIG2_HUMAN Leucine-rich repeats and immunoglobulin-like domains protein 2 (sprot)


ID4_HUMAN DNA-binding protein inhibitor ID-4 (sprot)


PANK3_HUMAN Pantothenate kinase 3 (sprot)


T22D3_HUMAN TSC22 domain family protein 3 (sprot)


Colletotrichum coccodes allergenic extract


CDY1_HUMAN Testis-specific chromodomain protein Y 1 (sprot)


L2GL2_HUMAN LLGL scribble cell polarity complex component 2 (sprot)


KI21A_HUMAN Kinesin-like protein KIF21A (sprot)


P4R3B_HUMAN Serine/threonine-protein phosphatase 4 regulatory subunit 3B (sprot)


AT5G3_HUMAN ATP synthase F(0) complex subunit C3, mitochondrial (sprot)


NELFD_HUMAN Negative elongation factor C/D (sprot)


NSUN5_HUMAN 28S rRNA (cytosine-C(5))-methyltransferase (sprot)


PA2GE_HUMAN Group IIE secretory phospholipase A2 (sprot)


congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency


VMA21_HUMAN Vacuolar ATPase assembly integral membrane protein VMA21 (sprot)


multiple system atrophy, cerebellar type


methylmalonic aciduria and homocystinuria type cblF


DCA17_HUMAN DDB1- and CUL4-associated factor 17 (sprot)


SRP09_HUMAN Signal recognition particle 9 kDa protein (sprot)


RAB17_HUMAN Ras-related protein Rab-17 (sprot)


DHRS6_HUMAN Dehydrogenase/reductase SDR family member 6 (sprot)


primary cutaneous anaplastic large cell lymphoma


FHI2B_HUMAN FHF complex subunit HOOK interacting protein 2B (sprot)


primary central nervous system vasculitis


NDUA9_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial (sprot)


M4K1_HUMAN Mitogen-activated protein kinase kinase kinase kinase 1 (sprot)


PK3CG_HUMAN Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform (sprot)


LYPD1_HUMAN Ly6/PLAUR domain-containing protein 1 (sprot)


FRS1L_HUMAN DOMON domain-containing protein FRRS1L (sprot)


ABC3G_HUMAN DNA dC->dU-editing enzyme APOBEC-3G (sprot)


ZIC5_HUMAN Zinc finger protein ZIC 5 (sprot)


primary qualitative or quantitative defects of alpha-dystroglycan


NETO1_HUMAN Neuropilin and tolloid-like protein 1 (sprot)


CLC2A_HUMAN C-type lectin domain family 2 member A (sprot)


VGFR1_HUMAN Vascular endothelial growth factor receptor 1 (sprot)


PHRF1_HUMAN PHD and RING finger domain-containing protein 1 (sprot)


HXC9_HUMAN Homeobox protein Hox-C9 (sprot)


FOXE3_HUMAN Forkhead box protein E3 (sprot)


T150A_HUMAN Transmembrane protein 150A (sprot)


COPG1_HUMAN Coatomer subunit gamma-1 (sprot)


ORC3_HUMAN Origin recognition complex subunit 3 (sprot)


PNISR_HUMAN Arginine/serine-rich protein PNISR (sprot)


FHL17_HUMAN Ferritin heavy polypeptide-like 17 (sprot)


AP1M1_HUMAN AP-1 complex subunit mu-1 (sprot)


hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome


GAB3_HUMAN GRB2-associated-binding protein 3 (sprot)


VTA1_HUMAN Vacuolar protein sorting-associated protein VTA1 homolog (sprot)


CD4_HUMAN T-cell surface glycoprotein CD4 (sprot)


RL5_HUMAN 60S ribosomal protein L5 (sprot)


ARBK2_HUMAN Beta-adrenergic receptor kinase 2 (sprot)


CO8G_HUMAN Complement component C8 gamma chain (sprot)


TCPQ_HUMAN T-complex protein 1 subunit theta (sprot)


ECM2_HUMAN Extracellular matrix protein 2 (sprot)


CA2D1_HUMAN Voltage-dependent calcium channel subunit alpha-2/delta-1 (sprot)


TMPS2_HUMAN Transmembrane protease serine 2 (sprot)


CND3_HUMAN Condensin complex subunit 3 (sprot)


MMSA_HUMAN Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial (sprot)


MK08_HUMAN Mitogen-activated protein kinase 8 (sprot)


WASC3_HUMAN WASH complex subunit 3 (sprot)


KLC2_HUMAN Kinesin light chain 2 (sprot)


DEPD7_HUMAN DEP domain-containing protein 7 (sprot)


SL9A1_HUMAN Sodium/hydrogen exchanger 1 (sprot)


DAPL1_HUMAN Death-associated protein-like 1 (sprot)


FRMD1_HUMAN FERM domain-containing protein 1 (sprot)


SV2B_HUMAN Synaptic vesicle glycoprotein 2B (sprot)


Abnormality of extrapyramidal motor function


ENOF1_HUMAN Mitochondrial enolase superfamily member 1 (sprot)


HDGR3_HUMAN Hepatoma-derived growth factor-related protein 3 (sprot)


DPP9_HUMAN Dipeptidyl peptidase 9 (sprot)


DECR2_HUMAN Peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] (sprot)


CLM9_HUMAN CMRF35-like molecule 9 (sprot)


I18BP_HUMAN Interleukin-18-binding protein (sprot)


DLX2_HUMAN Homeobox protein DLX-2 (sprot)


KLF1_HUMAN Krueppel-like factor 1 (sprot)


RFA1_HUMAN Replication protein A 70 kDa DNA-binding subunit (sprot)


SMUF2_HUMAN E3 ubiquitin-protein ligase SMURF2 (sprot)


TCP4_HUMAN Activated RNA polymerase II transcriptional coactivator p15 (sprot)


STK38_HUMAN Serine/threonine-protein kinase 38 (sprot)


NEK9_HUMAN Serine/threonine-protein kinase Nek9 (sprot)


NAGK_HUMAN N-acetyl-D-glucosamine kinase (sprot)


HEN1_HUMAN Helix-loop-helix protein 1 (sprot)


NOTUM_HUMAN Palmitoleoyl-protein carboxylesterase NOTUM (sprot)


ASB2_HUMAN Ankyrin repeat and SOCS box protein 2 (sprot)


TNR4_HUMAN Tumor necrosis factor receptor superfamily member 4 (sprot)


hereditary breast ovarian cancer syndrome


Pelizaeus-Merzbacher disease, connatal form


KCNH3_HUMAN Potassium voltage-gated channel subfamily H member 3 (sprot)


TR13B_HUMAN Tumor necrosis factor receptor superfamily member 13B (sprot)


CTL3_HUMAN Choline transporter-like protein 3 (sprot)


AF1L2_HUMAN Actin filament-associated protein 1-like 2 (sprot)


CDK13_HUMAN Cyclin-dependent kinase 13 (sprot)


TAP1_HUMAN Antigen peptide transporter 1 (sprot)


EFR3B_HUMAN Protein EFR3 homolog B (sprot)


PGFRB_HUMAN Platelet-derived growth factor receptor beta (sprot)


CRYAA_HUMAN Alpha-crystallin A chain (sprot)


MAGB6_HUMAN Melanoma-associated antigen B6 (sprot)


BOD1_HUMAN Biorientation of chromosomes in cell division protein 1 (sprot)


FACE1_HUMAN CAAX prenyl protease 1 homolog (sprot)


autoimmune pulmonary alveolar proteinosis


EIF3F_HUMAN Eukaryotic translation initiation factor 3 subunit F (sprot)


SGIP1_HUMAN SH3-containing GRB2-like protein 3-interacting protein 1 (sprot)


GKAP1_HUMAN G kinase-anchoring protein 1 (sprot)


IMDH1_HUMAN Inosine-5'-monophosphate dehydrogenase 1 (sprot)


autosomal recessive non-syndromic intellectual disability


PF21A_HUMAN PHD finger protein 21A (sprot)


PIANP_HUMAN PILR alpha-associated neural protein (sprot)


DUS6_HUMAN Dual specificity protein phosphatase 6 (sprot)


OAS1_HUMAN 2'-5'-oligoadenylate synthase 1 (sprot)


KIF5A_HUMAN Kinesin heavy chain isoform 5A (sprot)


PAFA_HUMAN Platelet-activating factor acetylhydrolase (sprot)


RECQ5_HUMAN ATP-dependent DNA helicase Q5 (sprot)


IF44L_HUMAN Interferon-induced protein 44-like (sprot)


HDAC9_HUMAN Histone deacetylase 9 (sprot)


PLCX2_HUMAN PI-PLC X domain-containing protein 2 (sprot)


FABPI_HUMAN Fatty acid-binding protein, intestinal (sprot)


RL22L_HUMAN 60S ribosomal protein L22-like 1 (sprot)


LITAF_HUMAN Lipopolysaccharide-induced tumor necrosis factor-alpha factor (sprot)


TRUB1_HUMAN Pseudouridylate synthase TRUB1 (sprot)


short stature with nonspecific skeletal abnormalities


GDF1_HUMAN Embryonic growth/differentiation factor 1 (sprot)


NED4L_HUMAN E3 ubiquitin-protein ligase NEDD4-like (sprot)


SIAT1_HUMAN Beta-galactoside alpha-2,6-sialyltransferase 1 (sprot)


RL6_HUMAN 60S ribosomal protein L6 (sprot)


SUMO3_HUMAN Small ubiquitin-related modifier 3 (sprot)


ECE2_HUMAN Endothelin-converting enzyme 2 (sprot)


RPC10_HUMAN DNA-directed RNA polymerase III subunit RPC10 (sprot)


KRT85_HUMAN Keratin, type II cuticular Hb5 (sprot)


BOK_HUMAN Bcl-2-related ovarian killer protein (sprot)


BAG4_HUMAN BAG family molecular chaperone regulator 4 (sprot)


intravascular papillary endothelial hyperplasia


T185A_HUMAN Transmembrane protein 185A (sprot)


autosomal dominant nonsyndromic hearing loss 5


SP16H_HUMAN FACT complex subunit SPT16 (sprot)


CX3C1_HUMAN CX3C chemokine receptor 1 (sprot)


EPDR1_HUMAN Mammalian ependymin-related protein 1 (sprot)


UBP2_HUMAN Ubiquitin carboxyl-terminal hydrolase 2 (sprot)


pulmonary alveolar proteinosis with hypogammaglobulinemia


S20A1_HUMAN Sodium-dependent phosphate transporter 1 (sprot)


SNF5_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (sprot)


CLC4C_HUMAN C-type lectin domain family 4 member C (sprot)


PHGR1_HUMAN Proline, histidine and glycine-rich protein 1 (sprot)


LRRK1_HUMAN Leucine-rich repeat serine/threonine-protein kinase 1 (sprot)


Ehlers-Danlos syndrome, hypermobility type


KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit beta (sprot)


LUR1L_HUMAN Leucine rich adaptor protein 1-like (sprot)


familial infantile bilateral striatal necrosis


S36A1_HUMAN Proton-coupled amino acid transporter 1 (sprot)


NSMA2_HUMAN Sphingomyelin phosphodiesterase 3 (sprot)


COG3_HUMAN Conserved oligomeric Golgi complex subunit 3 (sprot)


RIDA_HUMAN 2-iminobutanoate/2-iminopropanoate deaminase (sprot)


CARL3_HUMAN Capping protein, Arp2/3 and myosin-I linker protein 3 (sprot)


TBCD5_HUMAN TBC1 domain family member 5 (sprot)


ATP7B_HUMAN Copper-transporting ATPase 2 (sprot)


PA2GX_HUMAN Group 10 secretory phospholipase A2 (sprot)


HME1_HUMAN Homeobox protein engrailed-1 (sprot)


ER6L2_HUMAN DNA excision repair protein ERCC-6-like 2 (sprot)


acinar prostate adenocarcinoma, signet ring variant


PITX2_HUMAN Pituitary homeobox 2 (sprot)


NCTR2_HUMAN Natural cytotoxicity triggering receptor 2 (sprot)


RAB10_HUMAN Ras-related protein Rab-10 (sprot)


ACOX3_HUMAN Peroxisomal acyl-coenzyme A oxidase 3 (sprot)


facial onset sensory and motor neuronopathy


AP3D1_HUMAN AP-3 complex subunit delta-1 (sprot)


MZF1_HUMAN Myeloid zinc finger 1 (sprot)


RHBL3_HUMAN Rhomboid-related protein 3 (sprot)


PTN13_HUMAN Tyrosine-protein phosphatase non-receptor type 13 (sprot)


RMD5A_HUMAN E3 ubiquitin-protein transferase RMND5A (sprot)


SEBP2_HUMAN Selenocysteine insertion sequence-binding protein 2 (sprot)


FRRS1_HUMAN Ferric-chelate reductase 1 (sprot)


UBAP1_HUMAN Ubiquitin-associated protein 1 (sprot)


PLB1_HUMAN Phospholipase B1, membrane-associated (sprot)


TOE1_HUMAN Target of EGR1 protein 1 (sprot)


PAPS2_HUMAN Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (sprot)


S14L2_HUMAN SEC14-like protein 2 (sprot)


LIFR_HUMAN Leukemia inhibitory factor receptor (sprot)


VPS8_HUMAN Vacuolar protein sorting-associated protein 8 homolog (sprot)


IGHG3_HUMAN Immunoglobulin heavy constant gamma 3 (sprot)


twin reversal arterial perfusion syndrome


RN111_HUMAN E3 ubiquitin-protein ligase Arkadia (sprot)


CD5R1_HUMAN Cyclin-dependent kinase 5 activator 1 (sprot)


MFHA1_HUMAN Malignant fibrous histiocytoma-amplified sequence 1 (sprot)


KLH11_HUMAN Kelch-like protein 11 (sprot)


NPRL3_HUMAN GATOR complex protein NPRL3 (sprot)


IGSF8_HUMAN Immunoglobulin superfamily member 8 (sprot)


autosomal dominant nonsyndromic hearing loss 15


S39A2_HUMAN Zinc transporter ZIP2 (sprot)


isolated asymptomatic elevation of creatine phosphokinase


KIF2A_HUMAN Kinesin-like protein KIF2A (sprot)


RHG44_HUMAN Rho GTPase-activating protein 44 (sprot)


VPS54_HUMAN Vacuolar protein sorting-associated protein 54 (sprot)


AEBP1_HUMAN Adipocyte enhancer-binding protein 1 (sprot)


GABR1_HUMAN Gamma-aminobutyric acid type B receptor subunit 1 (sprot)


TBPL1_HUMAN TATA box-binding protein-like 1 (sprot)


PHX2B_HUMAN Paired mesoderm homeobox protein 2B (sprot)


VP33B_HUMAN Vacuolar protein sorting-associated protein 33B (sprot)


congenital disorder of glycosylation type I


VATH_HUMAN V-type proton ATPase subunit H (sprot)


COX8A_HUMAN Cytochrome c oxidase subunit 8A, mitochondrial (sprot)


HEAT3_HUMAN HEAT repeat-containing protein 3 (sprot)


MASP2_HUMAN Mannan-binding lectin serine protease 2 (sprot)


ARFG1_HUMAN ADP-ribosylation factor GTPase-activating protein 1 (sprot)


FKBP3_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP3 (sprot)


NDST4_HUMAN Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 (sprot)


YBOX2_HUMAN Y-box-binding protein 2 (sprot)


PA2G5_HUMAN Phospholipase A2 group V (sprot)


CDC6_HUMAN Cell division control protein 6 homolog (sprot)


congenital hereditary endothelial dystrophy type I


CD86_HUMAN T-lymphocyte activation antigen CD86 (sprot)


RYK_HUMAN Tyrosine-protein kinase RYK (sprot)


COASY_HUMAN Bifunctional coenzyme A synthase (sprot)


INT8_HUMAN Integrator complex subunit 8 (sprot)


WASH1_HUMAN WASH complex subunit 1 (sprot)


IMPG1_HUMAN Interphotoreceptor matrix proteoglycan 1 (sprot)


URGCP_HUMAN Up-regulator of cell proliferation (sprot)


ADAS_HUMAN Alkyldihydroxyacetonephosphate synthase, peroxisomal (sprot)


FYB1_HUMAN FYN-binding protein 1 (sprot)


PGK2_HUMAN Phosphoglycerate kinase 2 (sprot)


ARFRP_HUMAN ADP-ribosylation factor-related protein 1 (sprot)


LAPM5_HUMAN Lysosomal-associated transmembrane protein 5 (sprot)


CAC1I_HUMAN Voltage-dependent T-type calcium channel subunit alpha-1I (sprot)


HXD11_HUMAN Homeobox protein Hox-D11 (sprot)


RAI1_HUMAN Retinoic acid-induced protein 1 (sprot)


MEGF9_HUMAN Multiple epidermal growth factor-like domains protein 9 (sprot)


KLH22_HUMAN Kelch-like protein 22 (sprot)


pneumonia caused by gram negative bacteria


ADAT3_HUMAN Probable inactive tRNA-specific adenosine deaminase-like protein 3 (sprot)


KIF3B_HUMAN Kinesin-like protein KIF3B (sprot)


Abnormal posterior cranial fossa morphology


ZBT24_HUMAN Zinc finger and BTB domain-containing protein 24 (sprot)


TBCEL_HUMAN Tubulin-specific chaperone cofactor E-like protein (sprot)


MMP21_HUMAN Matrix metalloproteinase-21 (sprot)


MGAT2_HUMAN Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (sprot)


CCD62_HUMAN Coiled-coil domain-containing protein 62 (sprot)


S28A3_HUMAN Solute carrier family 28 member 3 (sprot)


MILK2_HUMAN MICAL-like protein 2 (sprot)


HDAC3_HUMAN Histone deacetylase 3 (sprot)


SPSB3_HUMAN SPRY domain-containing SOCS box protein 3 (sprot)


mandibulofacial dysostosis with alopecia


toxocara canis infection (canine roundworms)


infantile convulsions and choreoathetosis


S4A4_HUMAN Electrogenic sodium bicarbonate cotransporter 1 (sprot)


DHSD_HUMAN Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (sprot)


RASA3_HUMAN Ras GTPase-activating protein 3 (sprot)


THAS_HUMAN Thromboxane-A synthase (sprot)


Morphological abnormality of the middle ear


MLP3B_HUMAN Microtubule-associated proteins 1A/1B light chain 3B (sprot)


FCERB_HUMAN High affinity immunoglobulin epsilon receptor subunit beta (sprot)


PCSK4_HUMAN Proprotein convertase subtilisin/kexin type 4 (sprot)


DNM3L_HUMAN DNA (cytosine-5)-methyltransferase 3-like (sprot)


KCNA4_HUMAN Potassium voltage-gated channel subfamily A member 4 (sprot)


SUMO4_HUMAN Small ubiquitin-related modifier 4 (sprot)


UACA_HUMAN Uveal autoantigen with coiled-coil domains and ankyrin repeats (sprot)


TIKI2_HUMAN Metalloprotease TIKI2 (sprot)


autosomal recessive congenital ichthyosis 4B


FLRT2_HUMAN Leucine-rich repeat transmembrane protein FLRT2 (sprot)


MFTC_HUMAN Mitochondrial folate transporter/carrier (sprot)


SIVA_HUMAN Apoptosis regulatory protein Siva (sprot)


LG3BP_HUMAN Galectin-3-binding protein (sprot)


DYLT3_HUMAN Dynein light chain Tctex-type 3 (sprot)


PX11A_HUMAN Peroxisomal membrane protein 11A (sprot)


TXTP_HUMAN Tricarboxylate transport protein, mitochondrial (sprot)


SYEP_HUMAN Bifunctional glutamate/proline--tRNA ligase (sprot)


FXYD5_HUMAN FXYD domain-containing ion transport regulator 5 (sprot)


CACB3_HUMAN Voltage-dependent L-type calcium channel subunit beta-3 (sprot)


TMPS6_HUMAN Transmembrane protease serine 6 (sprot)


CA2D3_HUMAN Voltage-dependent calcium channel subunit alpha-2/delta-3 (sprot)


isolated growth hormone deficiency type IB


PTN22_HUMAN Tyrosine-protein phosphatase non-receptor type 22 (sprot)


RAE1E_HUMAN Retinoic acid early transcript 1E (sprot)


KRT86_HUMAN Keratin, type II cuticular Hb6 (sprot)


TXD17_HUMAN Thioredoxin domain-containing protein 17 (sprot)


RANG_HUMAN Ran-specific GTPase-activating protein (sprot)


CXCL5_HUMAN C-X-C motif chemokine 5 (sprot)


ARH_HUMAN Low density lipoprotein receptor adapter protein 1 (sprot)


RRP36_HUMAN Ribosomal RNA processing protein 36 homolog (sprot)


O51B4_HUMAN Olfactory receptor 51B4 (sprot)


BCORL_HUMAN BCL-6 corepressor-like protein 1 (sprot)


ZN830_HUMAN Zinc finger protein 830 (sprot)


DHDDS_HUMAN Dehydrodolichyl diphosphate synthase complex subunit DHDDS (sprot)


HSPB7_HUMAN Heat shock protein beta-7 (sprot)


ZZZ3_HUMAN ZZ-type zinc finger-containing protein 3 (sprot)


autoimmune interstitial lung disease-arthritis syndrome


EMAL5_HUMAN Echinoderm microtubule-associated protein-like 5 (sprot)


NEMF_HUMAN Ribosome quality control complex subunit NEMF (sprot)


WBP2_HUMAN WW domain-binding protein 2 (sprot)


SL9A8_HUMAN Sodium/hydrogen exchanger 8 (sprot)


HSH2D_HUMAN Hematopoietic SH2 domain-containing protein (sprot)


NMD3_HUMAN 60S ribosomal export protein NMD3 (sprot)


SC5A4_HUMAN Solute carrier family 5 member 4 (sprot)


SH3L2_HUMAN SH3 domain-binding glutamic acid-rich-like protein 2 (sprot)


ALDR_HUMAN Aldo-keto reductase family 1 member B1 (sprot)


TR10A_HUMAN Tumor necrosis factor receptor superfamily member 10A (sprot)


UBP18_HUMAN Ubl carboxyl-terminal hydrolase 18 (sprot)


SMCA4_HUMAN Transcription activator BRG1 (sprot)


ERD23_HUMAN ER lumen protein-retaining receptor 3 (sprot)


KAT7_HUMAN Histone acetyltransferase KAT7 (sprot)


cerebrofacial arteriovenous metameric syndrome type 1


BAGE1_HUMAN B melanoma antigen 1 (sprot)


NT5M_HUMAN 5'(3')-deoxyribonucleotidase, mitochondrial (sprot)


QCR9_HUMAN Cytochrome b-c1 complex subunit 9 (sprot)


S22AH_HUMAN Solute carrier family 22 member 17 (sprot)


AL9A1_HUMAN 4-trimethylaminobutyraldehyde dehydrogenase (sprot)


PUS10_HUMAN tRNA pseudouridine synthase Pus10 (sprot)


GST2_HUMAN Glutathione S-transferase theta-2 (sprot)


SP30L_HUMAN Histone deacetylase complex subunit SAP30L (sprot)


FFAR3_HUMAN Free fatty acid receptor 3 (sprot)


KCAB2_HUMAN Voltage-gated potassium channel subunit beta-2 (sprot)


hypogonadotropic hypogonadism 24 without anosmia


SERF1_HUMAN Small EDRK-rich factor 1 (sprot)


DOC11_HUMAN Dedicator of cytokinesis protein 11 (sprot)


CAP1_HUMAN Adenylyl cyclase-associated protein 1 (sprot)


multiple epiphyseal dysplasia and pseudoachondroplasia


REM1_HUMAN GTP-binding protein REM 1 (sprot)


ANR11_HUMAN Ankyrin repeat domain-containing protein 11 (sprot)


SHPRH_HUMAN E3 ubiquitin-protein ligase SHPRH (sprot)


LRRC4_HUMAN Leucine-rich repeat-containing protein 4 (sprot)


TNR14_HUMAN Tumor necrosis factor receptor superfamily member 14 (sprot)


DYLT1_HUMAN Dynein light chain Tctex-type 1 (sprot)


THIC_HUMAN Acetyl-CoA acetyltransferase, cytosolic (sprot)


PO3F4_HUMAN POU domain, class 3, transcription factor 4 (sprot)


macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome


PCDG9_HUMAN Protocadherin gamma-A9 (sprot)


SIK2_HUMAN Serine/threonine-protein kinase SIK2 (sprot)


RBM14_HUMAN RNA-binding protein 14 (sprot)


COA1_HUMAN Cytochrome c oxidase assembly factor 1 homolog (sprot)


NUBPL_HUMAN Iron-sulfur protein NUBPL (sprot)


RL7_HUMAN 60S ribosomal protein L7 (sprot)


MED28_HUMAN Mediator of RNA polymerase II transcription subunit 28 (sprot)


AJAP1_HUMAN Adherens junction-associated protein 1 (sprot)


RECK_HUMAN Reversion-inducing cysteine-rich protein with Kazal motifs (sprot)


ZFP2_HUMAN Zinc finger protein ZFP2 (sprot)


I17RC_HUMAN Interleukin-17 receptor C (sprot)


atypical hemolytic-uremic syndrome with anti-factor H antibodies


RHBD2_HUMAN Rhomboid domain-containing protein 2 (sprot)


SPHK1_HUMAN Sphingosine kinase 1 (sprot)


hereditary motor and sensory neuropathy type 6


homocystinuria due to methylene tetrahydrofolate reductase deficiency


CDKN3_HUMAN Cyclin-dependent kinase inhibitor 3 (sprot)


PPT1_HUMAN Palmitoyl-protein thioesterase 1 (sprot)


ST32A_HUMAN Serine/threonine-protein kinase 32A (sprot)


CBS_HUMAN Cystathionine beta-synthase (sprot)


VCX2_HUMAN Variable charge X-linked protein 2 (sprot)


neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures


NAA10_HUMAN N-alpha-acetyltransferase 10 (sprot)


ERD21_HUMAN ER lumen protein-retaining receptor 1 (sprot)


1433Z_HUMAN 14-3-3 protein zeta/delta (sprot)


STA13_HUMAN StAR-related lipid transfer protein 13 (sprot)


TBX15_HUMAN T-box transcription factor TBX15 (sprot)


CKAP4_HUMAN Cytoskeleton-associated protein 4 (sprot)


ASPH_HUMAN Aspartyl/asparaginyl beta-hydroxylase (sprot)


PAK5_HUMAN Serine/threonine-protein kinase PAK 5 (sprot)


RHG04_HUMAN Rho GTPase-activating protein 4 (sprot)


MD1L1_HUMAN Mitotic spindle assembly checkpoint protein MAD1 (sprot)


TTPA_HUMAN Alpha-tocopherol transfer protein (sprot)


MAFIP_HUMAN MaFF-interacting protein (sprot)


ISK7_HUMAN Serine protease inhibitor Kazal-type 7 (sprot)


NTRK1_HUMAN High affinity nerve growth factor receptor (sprot)


ZEP1_HUMAN Zinc finger protein 40 (sprot)


RM38_HUMAN 39S ribosomal protein L38, mitochondrial (sprot)


language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia


PSD2_HUMAN PH and SEC7 domain-containing protein 2 (sprot)


KCND3_HUMAN Potassium voltage-gated channel subfamily D member 3 (sprot)


ACBD6_HUMAN Acyl-CoA-binding domain-containing protein 6 (sprot)


ANKK1_HUMAN Ankyrin repeat and protein kinase domain-containing protein 1 (sprot)


PACS2_HUMAN Phosphofurin acidic cluster sorting protein 2 (sprot)


HOMEZ_HUMAN Homeobox and leucine zipper protein Homez (sprot)


CSAD_HUMAN Cysteine sulfinic acid decarboxylase (sprot)


GYS1_HUMAN Glycogen [starch] synthase, muscle (sprot)


TMM40_HUMAN Transmembrane protein 40 (sprot)


SMCE1_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 (sprot)


TLL1_HUMAN Tolloid-like protein 1 (sprot)


MCR_HUMAN Mineralocorticoid receptor (sprot)


autosomal recessive lymphoproliferative disease


congenital isolated adrenocorticotropic hormone deficiency


ARMC9_HUMAN LisH domain-containing protein ARMC9 (sprot)


PTX3_HUMAN Pentraxin-related protein PTX3 (sprot)


RBM11_HUMAN Splicing regulator RBM11 (sprot)


HORM2_HUMAN HORMA domain-containing protein 2 (sprot)


HOOK1_HUMAN Protein Hook homolog 1 (sprot)


EKI1_HUMAN Ethanolamine kinase 1 (sprot)


NCOA6_HUMAN Nuclear receptor coactivator 6 (sprot)


acute myeloblastic leukemia with maturation


carnitine palmitoyl transferase 1A deficiency


NELFE_HUMAN Negative elongation factor E (sprot)


NELFB_HUMAN Negative elongation factor B (sprot)


GRHL1_HUMAN Grainyhead-like protein 1 homolog (sprot)


ST1A2_HUMAN Sulfotransferase 1A2 (sprot)


ANS1B_HUMAN Ankyrin repeat and sterile alpha motif domain-containing protein 1B (sprot)


VP33A_HUMAN Vacuolar protein sorting-associated protein 33A (sprot)


RBM42_HUMAN RNA-binding protein 42 (sprot)


HDGF_HUMAN Hepatoma-derived growth factor (sprot)


ELOV7_HUMAN Elongation of very long chain fatty acids protein 7 (sprot)


FOXI1_HUMAN Forkhead box protein I1 (sprot)


HIF1N_HUMAN Hypoxia-inducible factor 1-alpha inhibitor (sprot)


RS14_HUMAN 40S ribosomal protein S14 (sprot)


TIM10_HUMAN Mitochondrial import inner membrane translocase subunit Tim10 (sprot)


OPSG_HUMAN Medium-wave-sensitive opsin 1 (sprot)


LPAR4_HUMAN Lysophosphatidic acid receptor 4 (sprot)


RM42_HUMAN 39S ribosomal protein L42, mitochondrial (sprot)


MAGB1_HUMAN Melanoma-associated antigen B1 (sprot)


NCKX1_HUMAN Sodium/potassium/calcium exchanger 1 (sprot)


TM11E_HUMAN Transmembrane protease serine 11E (sprot)


EYA1_HUMAN Eyes absent homolog 1 (sprot)


ENTP4_HUMAN Ectonucleoside triphosphate diphosphohydrolase 4 (sprot)


LAGE3_HUMAN EKC/KEOPS complex subunit LAGE3 (sprot)


COTL1_HUMAN Coactosin-like protein (sprot)


PDE3A_HUMAN cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A (sprot)


TX1B3_HUMAN Tax1-binding protein 3 (sprot)


CD20_HUMAN B-lymphocyte antigen CD20 (sprot)


DLEC1_HUMAN Deleted in lung and esophageal cancer protein 1 (sprot)


autosomal dominant nonsyndromic hearing loss 28


TBG1_HUMAN Tubulin gamma-1 chain (sprot)


RUFY2_HUMAN RUN and FYVE domain-containing protein 2 (sprot)


S26A1_HUMAN Sulfate anion transporter 1 (sprot)


cervical large cell neuroendocrine carcinoma


CHST6_HUMAN Carbohydrate sulfotransferase 6 (sprot)


SCRG1_HUMAN Scrapie-responsive protein 1 (sprot)


S45A3_HUMAN Solute carrier family 45 member 3 (sprot)


ACER1_HUMAN Alkaline ceramidase 1 (sprot)


MND1_HUMAN Meiotic nuclear division protein 1 homolog (sprot)


GFPT2_HUMAN Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 (sprot)


pterin-4 alpha-carbinolamine dehydratase 1 deficiency


DDX25_HUMAN ATP-dependent RNA helicase DDX25 (sprot)


STRP1_HUMAN Striatin-interacting protein 1 (sprot)


KLF6_HUMAN Krueppel-like factor 6 (sprot)


UPAR_HUMAN Urokinase plasminogen activator surface receptor (sprot)


S39AC_HUMAN Zinc transporter ZIP12 (sprot)


CHSTF_HUMAN Carbohydrate sulfotransferase 15 (sprot)


MKNK2_HUMAN MAP kinase-interacting serine/threonine-protein kinase 2 (sprot)


SYCE3_HUMAN Synaptonemal complex central element protein 3 (sprot)


S4A8_HUMAN Electroneutral sodium bicarbonate exchanger 1 (sprot)


MSI1H_HUMAN RNA-binding protein Musashi homolog 1 (sprot)


UBE2N_HUMAN Ubiquitin-conjugating enzyme E2 N (sprot)


TMG1_HUMAN Transmembrane gamma-carboxyglutamic acid protein 1 (sprot)


SLAF6_HUMAN SLAM family member 6 (sprot)


coloboma of macula-brachydactyly type B syndrome


NFX1_HUMAN Transcriptional repressor NF-X1 (sprot)


RT23_HUMAN 28S ribosomal protein S23, mitochondrial (sprot)


Z354C_HUMAN Zinc finger protein 354C (sprot)


NLE1_HUMAN Notchless protein homolog 1 (sprot)


ZNHI2_HUMAN Zinc finger HIT domain-containing protein 2 (sprot)


MUC18_HUMAN Cell surface glycoprotein MUC18 (sprot)


TAF1L_HUMAN Transcription initiation factor TFIID subunit 1-like (sprot)


STAT2_HUMAN Signal transducer and activator of transcription 2 (sprot)


B3GN3_HUMAN N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 (sprot)


KPCG_HUMAN Protein kinase C gamma type (sprot)


SENP7_HUMAN Sentrin-specific protease 7 (sprot)


TAAR2_HUMAN Trace amine-associated receptor 2 (sprot)


KCC2A_HUMAN Calcium/calmodulin-dependent protein kinase type II subunit alpha (sprot)


TSG10_HUMAN Testis-specific gene 10 protein (sprot)


LIS1_HUMAN Platelet-activating factor acetylhydrolase IB subunit beta (sprot)


NCOR1_HUMAN Nuclear receptor corepressor 1 (sprot)


SFPA2_HUMAN Pulmonary surfactant-associated protein A2 (sprot)


MTMRB_HUMAN Myotubularin-related protein 11 (sprot)


PASK_HUMAN PAS domain-containing serine/threonine-protein kinase (sprot)


CHST3_HUMAN Carbohydrate sulfotransferase 3 (sprot)


SMAD2_HUMAN Mothers against decapentaplegic homolog 2 (sprot)


THEM5_HUMAN Acyl-coenzyme A thioesterase THEM5 (sprot)


DRD4_HUMAN D(4) dopamine receptor (sprot)


SDF1_HUMAN Stromal cell-derived factor 1 (sprot)


VA0D1_HUMAN V-type proton ATPase subunit d 1 (sprot)


GPDM_HUMAN Glycerol-3-phosphate dehydrogenase, mitochondrial (sprot)


MSX2_HUMAN Homeobox protein MSX-2 (sprot)


AMPL_HUMAN Cytosol aminopeptidase (sprot)


IQCB1_HUMAN IQ calmodulin-binding motif-containing protein 1 (sprot)


X-linked sideroblastic anemia with ataxia


neuronopathy, distal hereditary motor, type 5A


SOLH2_HUMAN Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 (sprot)


E41L3_HUMAN Band 4.1-like protein 3 (sprot)


RL23A_HUMAN 60S ribosomal protein L23a (sprot)


WDFY1_HUMAN WD repeat and FYVE domain-containing protein 1 (sprot)


AKA7A_HUMAN A-kinase anchor protein 7 isoforms alpha and beta (sprot)


DDC_HUMAN Aromatic-L-amino-acid decarboxylase (sprot)


human papillomavirus-related squamous cell carcinoma


ACOT1_HUMAN Acyl-coenzyme A thioesterase 1 (sprot)


TCAL1_HUMAN Transcription elongation factor A protein-like 1 (sprot)


CBX8_HUMAN Chromobox protein homolog 8 (sprot)


CCL20_HUMAN C-C motif chemokine 20 (sprot)


SCNAA_HUMAN Sodium channel protein type 10 subunit alpha (sprot)


ST18_HUMAN Suppression of tumorigenicity 18 protein (sprot)


MUS81_HUMAN Crossover junction endonuclease MUS81 (sprot)


Diphosphomethylphosphonic acid adenosyl ester


BCL9_HUMAN B-cell CLL/lymphoma 9 protein (sprot)


CAB39_HUMAN Calcium-binding protein 39 (sprot)


RB11A_HUMAN Ras-related protein Rab-11A (sprot)


MET27_HUMAN Methyltransferase-like protein 27 (sprot)


RL22_HUMAN 60S ribosomal protein L22 (sprot)


DDX60_HUMAN Probable ATP-dependent RNA helicase DDX60 (sprot)


I23O2_HUMAN Indoleamine 2,3-dioxygenase 2 (sprot)


neurodegeneration with brain iron accumulation 5


VIP2_HUMAN Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 (sprot)


STAG3_HUMAN Cohesin subunit SA-3 (sprot)


DYRK3_HUMAN Dual specificity tyrosine-phosphorylation-regulated kinase 3 (sprot)


primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma


UBIP1_HUMAN Upstream-binding protein 1 (sprot)


I15RA_HUMAN Interleukin-15 receptor subunit alpha (sprot)


pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia


PSB4_HUMAN Proteasome subunit beta type-4 (sprot)


ABCA5_HUMAN Cholesterol transporter ABCA5 (sprot)


MGAT1_HUMAN Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (sprot)


LGR4_HUMAN Leucine-rich repeat-containing G-protein coupled receptor 4 (sprot)


mixed somatotroph-lactotroph pituitary gland adenoma


BRD3_HUMAN Bromodomain-containing protein 3 (sprot)


attention deficit hyperactivity disorder, inattentive type


HES7_HUMAN Transcription factor HES-7 (sprot)


I17RD_HUMAN Interleukin-17 receptor D (sprot)


MGME1_HUMAN Mitochondrial genome maintenance exonuclease 1 (sprot)


PIT1_HUMAN Pituitary-specific positive transcription factor 1 (sprot)


ZMAT5_HUMAN Zinc finger matrin-type protein 5 (sprot)


KLF14_HUMAN Krueppel-like factor 14 (sprot)


DRG2_HUMAN Developmentally-regulated GTP-binding protein 2 (sprot)


I2BP1_HUMAN Interferon regulatory factor 2-binding protein 1 (sprot)


hepatic veno-occlusive disease-immunodeficiency syndrome


AOC2_HUMAN Retina-specific copper amine oxidase (sprot)


CTRO_HUMAN Citron Rho-interacting kinase (sprot)


X-linked congenital generalized hypertrichosis


Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency


DCAF6_HUMAN DDB1- and CUL4-associated factor 6 (sprot)


PLCG1_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 (sprot)


PHLP_HUMAN Phosducin-like protein (sprot)


LCE3B_HUMAN Late cornified envelope protein 3B (sprot)


cutaneous undifferentiated pleomorphic sarcoma


FGOP2_HUMAN FGFR1 oncogene partner 2 (sprot)


RIR2_HUMAN Ribonucleoside-diphosphate reductase subunit M2 (sprot)


OSTC_HUMAN Oligosaccharyltransferase complex subunit OSTC (sprot)


CACO1_HUMAN Calcium-binding and coiled-coil domain-containing protein 1 (sprot)


PDLI5_HUMAN PDZ and LIM domain protein 5 (sprot)


TAOK2_HUMAN Serine/threonine-protein kinase TAO2 (sprot)


FUT1_HUMAN Galactoside alpha-(1,2)-fucosyltransferase 1 (sprot)


NP1L1_HUMAN Nucleosome assembly protein 1-like 1 (sprot)


BCAS4_HUMAN Breast carcinoma-amplified sequence 4 (sprot)


MOS_HUMAN Proto-oncogene serine/threonine-protein kinase mos (sprot)


RS27L_HUMAN 40S ribosomal protein S27-like (sprot)


ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 (sprot)


SCN2A_HUMAN Sodium channel protein type 2 subunit alpha (sprot)


PLPP7_HUMAN Inactive phospholipid phosphatase 7 (sprot)


ASB15_HUMAN Ankyrin repeat and SOCS box protein 15 (sprot)


TCEA3_HUMAN Transcription elongation factor A protein 3 (sprot)


CDC37_HUMAN Hsp90 co-chaperone Cdc37 (sprot)


PRP31_HUMAN U4/U6 small nuclear ribonucleoprotein Prp31 (sprot)


thyroid gland papillary and follicular carcinoma


IL6RA_HUMAN Interleukin-6 receptor subunit alpha (sprot)


K22O_HUMAN Keratin, type II cytoskeletal 2 oral (sprot)


TRNT1_HUMAN CCA tRNA nucleotidyltransferase 1, mitochondrial (sprot)


TEPP_HUMAN Testis, prostate and placenta-expressed protein (sprot)


DP13A_HUMAN DCC-interacting protein 13-alpha (sprot)


CT452_HUMAN Cancer/testis antigen family 45 member A2 (sprot)


HGD_HUMAN Homogentisate 1,2-dioxygenase (sprot)


C1QL4_HUMAN Complement C1q-like protein 4 (sprot)


hypothyroidism due to TSH receptor mutations


M3K11_HUMAN Mitogen-activated protein kinase kinase kinase 11 (sprot)


PAK6_HUMAN Serine/threonine-protein kinase PAK 6 (sprot)


ISCA2_HUMAN Iron-sulfur cluster assembly 2 homolog, mitochondrial (sprot)


MZB1_HUMAN Marginal zone B- and B1-cell-specific protein (sprot)


IGSF3_HUMAN Immunoglobulin superfamily member 3 (sprot)


HAP1_HUMAN Huntingtin-associated protein 1 (sprot)


RAB5B_HUMAN Ras-related protein Rab-5B (sprot)


NPIB3_HUMAN Nuclear pore complex-interacting protein family member B3 (sprot)


ZSWM7_HUMAN Zinc finger SWIM domain-containing protein 7 (sprot)


PCDGK_HUMAN Protocadherin gamma-C3 (sprot)


RBY1A_HUMAN RNA-binding motif protein, Y chromosome, family 1 member A1 (sprot)


CUZD1_HUMAN CUB and zona pellucida-like domain-containing protein 1 (sprot)


TFP11_HUMAN Tuftelin-interacting protein 11 (sprot)


UBXN6_HUMAN UBX domain-containing protein 6 (sprot)


PCLI1_HUMAN PTB-containing, cubilin and LRP1-interacting protein (sprot)


LAMA4_HUMAN Laminin subunit alpha-4 (sprot)


SOAT1_HUMAN Sterol O-acyltransferase 1 (sprot)


DNMT1_HUMAN DNA (cytosine-5)-methyltransferase 1 (sprot)


SPS1_HUMAN Selenide, water dikinase 1 (sprot)


GLP1R_HUMAN Glucagon-like peptide 1 receptor (sprot)


MX2_HUMAN Interferon-induced GTP-binding protein Mx2 (sprot)


LIMS1_HUMAN LIM and senescent cell antigen-like-containing domain protein 1 (sprot)


ALKB3_HUMAN Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 (sprot)


IRX5_HUMAN Iroquois-class homeodomain protein IRX-5 (sprot)


SPRY4_HUMAN SPRY domain-containing protein 4 (sprot)


PGTB1_HUMAN Geranylgeranyl transferase type-1 subunit beta (sprot)


RHCG_HUMAN Ammonium transporter Rh type C (sprot)


congenital myasthenic syndrome with tubular aggregates


NGAP_HUMAN Ras GTPase-activating protein nGAP (sprot)


ERG24_HUMAN Delta(14)-sterol reductase TM7SF2 (sprot)


MTMR2_HUMAN Myotubularin-related protein 2 (sprot)


melanoma and neural system tumor syndrome


COHA1_HUMAN Collagen alpha-1(XVII) chain (sprot)


TBRG1_HUMAN Transforming growth factor beta regulator 1 (sprot)


ALKB4_HUMAN Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4 (sprot)


DENR_HUMAN Density-regulated protein (sprot)


DJB12_HUMAN DnaJ homolog subfamily B member 12 (sprot)


hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


C1QT6_HUMAN Complement C1q tumor necrosis factor-related protein 6 (sprot)


OX2G_HUMAN OX-2 membrane glycoprotein (sprot)


SC22B_HUMAN Vesicle-trafficking protein SEC22b (sprot)


EME2_HUMAN Probable crossover junction endonuclease EME2 (sprot)


CP250_HUMAN Centrosome-associated protein CEP250 (sprot)


ACADM_HUMAN Medium-chain specific acyl-CoA dehydrogenase, mitochondrial (sprot)


CLIC4_HUMAN Chloride intracellular channel protein 4 (sprot)


DHCR7_HUMAN 7-dehydrocholesterol reductase (sprot)


CLC4F_HUMAN C-type lectin domain family 4 member F (sprot)


SLN11_HUMAN Schlafen family member 11 (sprot)


DEDD_HUMAN Death effector domain-containing protein (sprot)


GATA1_HUMAN Erythroid transcription factor (sprot)


SKP1_HUMAN S-phase kinase-associated protein 1 (sprot)


NFRKB_HUMAN Nuclear factor related to kappa-B-binding protein (sprot)


PRD14_HUMAN PR domain zinc finger protein 14 (sprot)


RCL1_HUMAN RNA 3'-terminal phosphate cyclase-like protein (sprot)


PI5PA_HUMAN Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A (sprot)


RGS8_HUMAN Regulator of G-protein signaling 8 (sprot)


familial partial lipodystrophy, Kobberling type


PCX4_HUMAN Pecanex-like protein 4 (sprot)


DD19A_HUMAN ATP-dependent RNA helicase DDX19A (sprot)


TR13C_HUMAN Tumor necrosis factor receptor superfamily member 13C (sprot)


TMC2_HUMAN Transmembrane channel-like protein 2 (sprot)


T2R14_HUMAN Taste receptor type 2 member 14 (sprot)


ALK-negative anaplastic large cell lymphoma


CLCA3_HUMAN Calcium-activated chloride channel regulator family member 3 (sprot)


SIR2_HUMAN NAD-dependent protein deacetylase sirtuin-2 (sprot)


early-onset autosomal dominant Alzheimer disease


TM38B_HUMAN Trimeric intracellular cation channel type B (sprot)


MYCT_HUMAN Proton myo-inositol cotransporter (sprot)


STK40_HUMAN Serine/threonine-protein kinase 40 (sprot)


autosomal dominant polycystic kidney disease


mucopolysaccharidosis type 2, severe form


NRG1_HUMAN Pro-neuregulin-1, membrane-bound isoform (sprot)


CLCN6_HUMAN H(+)/Cl(-) exchange transporter 6 (sprot)


TGFI1_HUMAN Transforming growth factor beta-1-induced transcript 1 protein (sprot)


ZNRF2_HUMAN E3 ubiquitin-protein ligase ZNRF2 (sprot)


progressive familial intrahepatic cholestasis type 3


PGAP1_HUMAN GPI inositol-deacylase (sprot)


ANR49_HUMAN Ankyrin repeat domain-containing protein 49 (sprot)


NRAM2_HUMAN Natural resistance-associated macrophage protein 2 (sprot)


JUN_HUMAN Transcription factor Jun (sprot)


SASH3_HUMAN SAM and SH3 domain-containing protein 3 (sprot)


QRIC1_HUMAN Transcriptional regulator QRICH1 (sprot)


S22AA_HUMAN Solute carrier family 22 member 10 (sprot)


TM138_HUMAN Transmembrane protein 138 (sprot)


TRYB1_HUMAN Tryptase alpha/beta-1 (sprot)


HXC10_HUMAN Homeobox protein Hox-C10 (sprot)


ERP44_HUMAN Endoplasmic reticulum resident protein 44 (sprot)


NRK_HUMAN Nik-related protein kinase (sprot)


NU107_HUMAN Nuclear pore complex protein Nup107 (sprot)


FLT3_HUMAN Receptor-type tyrosine-protein kinase FLT3 (sprot)


TACC3_HUMAN Transforming acidic coiled-coil-containing protein 3 (sprot)


qualitative or quantitative defects of alpha-sarcoglycan


LRC33_HUMAN Transforming growth factor beta activator LRRC33 (sprot)


TRI15_HUMAN Tripartite motif-containing protein 15 (sprot)


BTNL8_HUMAN Butyrophilin-like protein 8 (sprot)


GCP5_HUMAN Gamma-tubulin complex component 5 (sprot)


GRIP2_HUMAN Glutamate receptor-interacting protein 2 (sprot)


small intestinal mucosa-associated lymphoid tissue lymphoma


MARE2_HUMAN Microtubule-associated protein RP/EB family member 2 (sprot)


autosomal recessive distal hereditary motor neuropathy


MCAF2_HUMAN Activating transcription factor 7-interacting protein 2 (sprot)


EXOC3_HUMAN Exocyst complex component 3 (sprot)


URAD_HUMAN Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase (sprot)


EPHA5_HUMAN Ephrin type-A receptor 5 (sprot)


MLP3C_HUMAN Microtubule-associated proteins 1A/1B light chain 3C (sprot)


L3R2A_HUMAN Putative uncharacterized protein encoded by LINC00312 (sprot)


UBR5_HUMAN E3 ubiquitin-protein ligase UBR5 (sprot)


ZO2_HUMAN Tight junction protein ZO-2 (sprot)


PLCL1_HUMAN Inactive phospholipase C-like protein 1 (sprot)


GPTC2_HUMAN G patch domain-containing protein 2 (sprot)


EPHB2_HUMAN Ephrin type-B receptor 2 (sprot)


progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome


BRNP1_HUMAN BMP/retinoic acid-inducible neural-specific protein 1 (sprot)


LT4R1_HUMAN Leukotriene B4 receptor 1 (sprot)


TMED4_HUMAN Transmembrane emp24 domain-containing protein 4 (sprot)


TMC6_HUMAN Transmembrane channel-like protein 6 (sprot)


PLS2_HUMAN Phospholipid scramblase 2 (sprot)


SMS1_HUMAN Phosphatidylcholine:ceramide cholinephosphotransferase 1 (sprot)


TIGD3_HUMAN Tigger transposable element-derived protein 3 (sprot)


PK1L3_HUMAN Polycystic kidney disease protein 1-like 3 (sprot)


GPR26_HUMAN G-protein coupled receptor 26 (sprot)


CAH5B_HUMAN Carbonic anhydrase 5B, mitochondrial (sprot)


RANB3_HUMAN Ran-binding protein 3 (sprot)


SRS10_HUMAN Serine/arginine-rich splicing factor 10 (sprot)


TRAIP_HUMAN E3 ubiquitin-protein ligase TRAIP (sprot)


CORIN_HUMAN Atrial natriuretic peptide-converting enzyme (sprot)


RIN2_HUMAN Ras and Rab interactor 2 (sprot)


HYOU1_HUMAN Hypoxia up-regulated protein 1 (sprot)


BHE23_HUMAN Class E basic helix-loop-helix protein 23 (sprot)


BRCC3_HUMAN Lys-63-specific deubiquitinase BRCC36 (sprot)


SKAP1_HUMAN Src kinase-associated phosphoprotein 1 (sprot)


TIP_HUMAN T-cell immunomodulatory protein (sprot)


S12A6_HUMAN Solute carrier family 12 member 6 (sprot)


KCC1G_HUMAN Calcium/calmodulin-dependent protein kinase type 1G (sprot)


PRND_HUMAN Prion-like protein doppel (sprot)


ZSWM2_HUMAN E3 ubiquitin-protein ligase ZSWIM2 (sprot)


OBSL1_HUMAN Obscurin-like protein 1 (sprot)


3BP5_HUMAN SH3 domain-binding protein 5 (sprot)


RGS6_HUMAN Regulator of G-protein signaling 6 (sprot)


1433S_HUMAN 14-3-3 protein sigma (sprot)


PLCX1_HUMAN PI-PLC X domain-containing protein 1 (sprot)


RFX6_HUMAN DNA-binding protein RFX6 (sprot)


AMGO2_HUMAN Amphoterin-induced protein 2 (sprot)


MMP23_HUMAN Matrix metalloproteinase-23 (sprot)


E41L2_HUMAN Band 4.1-like protein 2 (sprot)


N42L1_HUMAN NEDD4-binding protein 2-like 1 (sprot)


YETS4_HUMAN YEATS domain-containing protein 4 (sprot)


ATOH1_HUMAN Transcription factor ATOH1 (sprot)


RSRC2_HUMAN Arginine/serine-rich coiled-coil protein 2 (sprot)


MNX1_HUMAN Motor neuron and pancreas homeobox protein 1 (sprot)


ESCO2_HUMAN N-acetyltransferase ESCO2 (sprot)


VTI1A_HUMAN Vesicle transport through interaction with t-SNAREs homolog 1A (sprot)


ADPRS_HUMAN ADP-ribosylhydrolase ARH3 (sprot)


BCAP_HUMAN Phosphoinositide 3-kinase adapter protein 1 (sprot)


secondary hyperparathyroidism of renal origin


XPP3_HUMAN Xaa-Pro aminopeptidase 3 (sprot)


AMACR_HUMAN Alpha-methylacyl-CoA racemase (sprot)


3MG_HUMAN DNA-3-methyladenine glycosylase (sprot)


ANKS6_HUMAN Ankyrin repeat and SAM domain-containing protein 6 (sprot)


IKBL1_HUMAN NF-kappa-B inhibitor-like protein 1 (sprot)


UBAC1_HUMAN Ubiquitin-associated domain-containing protein 1 (sprot)


autosomal recessive spondylocostal dysostosis


TRM44_HUMAN Probable tRNA (uracil-O(2)-)-methyltransferase (sprot)


CP17A_HUMAN Steroid 17-alpha-hydroxylase/17,20 lyase (sprot)


PK3CB_HUMAN Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform (sprot)


SMG7_HUMAN Nonsense-mediated mRNA decay factor SMG7 (sprot)


TSSK3_HUMAN Testis-specific serine/threonine-protein kinase 3 (sprot)


GNRHR_HUMAN Gonadotropin-releasing hormone receptor (sprot)


NSMA3_HUMAN Sphingomyelin phosphodiesterase 4 (sprot)


DI3L2_HUMAN DIS3-like exonuclease 2 (sprot)


RTN4R_HUMAN Reticulon-4 receptor (sprot)


SPT12_HUMAN Spermatogenesis-associated protein 12 (sprot)


Z804A_HUMAN Zinc finger protein 804A (sprot)


NCPR_HUMAN NADPH--cytochrome P450 reductase (sprot)


SPHK2_HUMAN Sphingosine kinase 2 (sprot)


intellectual disability-cataracts-calcified pinnae-myopathy syndrome


HARS1_HUMAN Histidine--tRNA ligase, cytoplasmic (sprot)


T4S1_HUMAN Transmembrane 4 L6 family member 1 (sprot)


FCRL1_HUMAN Fc receptor-like protein 1 (sprot)


TNFL8_HUMAN Tumor necrosis factor ligand superfamily member 8 (sprot)


VGFR2_HUMAN Vascular endothelial growth factor receptor 2 (sprot)


C560_HUMAN Succinate dehydrogenase cytochrome b560 subunit, mitochondrial (sprot)


ACSM4_HUMAN Acyl-coenzyme A synthetase ACSM4, mitochondrial (sprot)


congenital generalized lipodystrophy type 4


STING_HUMAN Stimulator of interferon genes protein (sprot)


SFTA3_HUMAN Surfactant-associated protein 3 (sprot)


sorbitol dehydrogenase deficiency with peripheral neuropathy


KDM6A_HUMAN Lysine-specific demethylase 6A (sprot)


MET16_HUMAN RNA N6-adenosine-methyltransferase METTL16 (sprot)


TCPD_HUMAN T-complex protein 1 subunit delta (sprot)


BAP1_HUMAN Ubiquitin carboxyl-terminal hydrolase BAP1 (sprot)


DEXI_HUMAN Dexamethasone-induced protein (sprot)


TCAL9_HUMAN Transcription elongation factor A protein-like 9 (sprot)


SKA3_HUMAN Spindle and kinetochore-associated protein 3 (sprot)


GPR84_HUMAN G-protein coupled receptor 84 (sprot)


PCNP_HUMAN PEST proteolytic signal-containing nuclear protein (sprot)


KKCC2_HUMAN Calcium/calmodulin-dependent protein kinase kinase 2 (sprot)


CSRP1_HUMAN Cysteine and glycine-rich protein 1 (sprot)


CXL10_HUMAN C-X-C motif chemokine 10 (sprot)


ERN1_HUMAN Serine/threonine-protein kinase/endoribonuclease IRE1 (sprot)


LIN41_HUMAN E3 ubiquitin-protein ligase TRIM71 (sprot)


ITGBL_HUMAN Integrin beta-like protein 1 (sprot)


MARE3_HUMAN Microtubule-associated protein RP/EB family member 3 (sprot)


GL1D1_HUMAN Glycosyltransferase 1 domain-containing protein 1 (sprot)


BLM_HUMAN RecQ-like DNA helicase BLM (sprot)


BPTF_HUMAN Nucleosome-remodeling factor subunit BPTF (sprot)


ANTR1_HUMAN Anthrax toxin receptor 1 (sprot)


IBP6_HUMAN Insulin-like growth factor-binding protein 6 (sprot)


tenosynovial giant cell tumor, diffuse type


eosinophilic variant of chromophobe renal cell carcinoma


NOD2_HUMAN Nucleotide-binding oligomerization domain-containing protein 2 (sprot)


FOSL1_HUMAN Fos-related antigen 1 (sprot)


MDGA2_HUMAN MAM domain-containing glycosylphosphatidylinositol anchor protein 2 (sprot)


EST1A_HUMAN Telomerase-binding protein EST1A (sprot)


PRDM7_HUMAN Histone-lysine N-methyltransferase PRDM7 (sprot)


ASAP3_HUMAN Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 (sprot)


IER5_HUMAN Immediate early response gene 5 protein (sprot)


nodular regenerative hyperplasia of the liver


FOXA3_HUMAN Hepatocyte nuclear factor 3-gamma (sprot)


UBE3A_HUMAN Ubiquitin-protein ligase E3A (sprot)


KRT84_HUMAN Keratin, type II cuticular Hb4 (sprot)


PAPD5_HUMAN Terminal nucleotidyltransferase 4B (sprot)


MD12L_HUMAN Mediator of RNA polymerase II transcription subunit 12-like protein (sprot)


FLT3L_HUMAN Fms-related tyrosine kinase 3 ligand (sprot)


REEP3_HUMAN Receptor expression-enhancing protein 3 (sprot)


glycogen storage disease due to glycogen branching enzyme deficiency


ZN208_HUMAN Zinc finger protein 208 (sprot)


LCE1E_HUMAN Late cornified envelope protein 1E (sprot)


HHAT_HUMAN Protein-cysteine N-palmitoyltransferase HHAT (sprot)


ASPH2_HUMAN Aspartate beta-hydroxylase domain-containing protein 2 (sprot)


LBP_HUMAN Lipopolysaccharide-binding protein (sprot)


PCM1_HUMAN Pericentriolar material 1 protein (sprot)


GSLG1_HUMAN Golgi apparatus protein 1 (sprot)


PDP1_HUMAN [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial (sprot)


T184C_HUMAN Transmembrane protein 184C (sprot)


MRGX3_HUMAN Mas-related G-protein coupled receptor member X3 (sprot)


IGLL5_HUMAN Immunoglobulin lambda-like polypeptide 5 (sprot)


PA24C_HUMAN Cytosolic phospholipase A2 gamma (sprot)


VGLU1_HUMAN Vesicular glutamate transporter 1 (sprot)


TPRA1_HUMAN Transmembrane protein adipocyte-associated 1 (sprot)


FSCB_HUMAN Fibrous sheath CABYR-binding protein (sprot)


TAF13_HUMAN Transcription initiation factor TFIID subunit 13 (sprot)


IKZF1_HUMAN DNA-binding protein Ikaros (sprot)


DAND5_HUMAN DAN domain family member 5 (sprot)


HCD2_HUMAN 3-hydroxyacyl-CoA dehydrogenase type-2 (sprot)


SET1B_HUMAN Histone-lysine N-methyltransferase SETD1B (sprot)


SDHF1_HUMAN Succinate dehydrogenase assembly factor 1, mitochondrial (sprot)


IL2RG_HUMAN Cytokine receptor common subunit gamma (sprot)


FKBP6_HUMAN Inactive peptidyl-prolyl cis-trans isomerase FKBP6 (sprot)


MALD1_HUMAN MARVEL domain-containing protein 1 (sprot)


SMBT2_HUMAN Scm-like with four MBT domains protein 2 (sprot)


PDE1A_HUMAN Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (sprot)


TPPP3_HUMAN Tubulin polymerization-promoting protein family member 3 (sprot)


HPTR_HUMAN Haptoglobin-related protein (sprot)


RASF1_HUMAN Ras association domain-containing protein 1 (sprot)


GSE1_HUMAN Genetic suppressor element 1 (sprot)


KAD4_HUMAN Adenylate kinase 4, mitochondrial (sprot)


atypical chronic myeloid leukemia, BCR-ABL1 negative


P4K2B_HUMAN Phosphatidylinositol 4-kinase type 2-beta (sprot)


SIN1_HUMAN Target of rapamycin complex 2 subunit MAPKAP1 (sprot)


CC85B_HUMAN Coiled-coil domain-containing protein 85B (sprot)


GSTM1_HUMAN Glutathione S-transferase Mu 1 (sprot)


T3JAM_HUMAN TRAF3-interacting JNK-activating modulator (sprot)


RRAGB_HUMAN Ras-related GTP-binding protein B (sprot)


LAMB1_HUMAN Laminin subunit beta-1 (sprot)


juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome


PSPC1_HUMAN Paraspeckle component 1 (sprot)


SMD3_HUMAN Small nuclear ribonucleoprotein Sm D3 (sprot)


GHSR_HUMAN Growth hormone secretagogue receptor type 1 (sprot)


PTN2_HUMAN Tyrosine-protein phosphatase non-receptor type 2 (sprot)


TRAF2_HUMAN TNF receptor-associated factor 2 (sprot)


HNF6_HUMAN Hepatocyte nuclear factor 6 (sprot)


JUNO_HUMAN Sperm-egg fusion protein Juno (sprot)


KMT2A_HUMAN Histone-lysine N-methyltransferase 2A (sprot)


corticosteroid-sensitive aseptic abscess syndrome


ZN488_HUMAN Zinc finger protein 488 (sprot)


PAK2_HUMAN Serine/threonine-protein kinase PAK 2 (sprot)


CNOT6_HUMAN CCR4-NOT transcription complex subunit 6 (sprot)


TXND5_HUMAN Thioredoxin domain-containing protein 5 (sprot)


TM102_HUMAN Transmembrane protein 102 (sprot)


ALKMO_HUMAN Alkylglycerol monooxygenase (sprot)


ACAP3_HUMAN Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 (sprot)


PSB7_HUMAN Proteasome subunit beta type-7 (sprot)


FBX11_HUMAN F-box only protein 11 (sprot)


SSR1_HUMAN Somatostatin receptor type 1 (sprot)


HECAM_HUMAN Hepatocyte cell adhesion molecule (sprot)


WDFY3_HUMAN WD repeat and FYVE domain-containing protein 3 (sprot)


MA2C1_HUMAN Alpha-mannosidase 2C1 (sprot)


TP8L2_HUMAN Tumor necrosis factor alpha-induced protein 8-like protein 2 (sprot)


IFNA1_HUMAN Interferon alpha-1/13 (sprot)


NUD22_HUMAN Uridine diphosphate glucose pyrophosphatase NUDT22 (sprot)


CTHR1_HUMAN Collagen triple helix repeat-containing protein 1 (sprot)


BCLF1_HUMAN Bcl-2-associated transcription factor 1 (sprot)


SELPL_HUMAN P-selectin glycoprotein ligand 1 (sprot)


holoprosencephaly-radial heart renal anomalies syndrome


MYPC3_HUMAN Myosin-binding protein C, cardiac-type (sprot)


RAP1A_HUMAN Ras-related protein Rap-1A (sprot)


GPR18_HUMAN N-arachidonyl glycine receptor (sprot)


CXG3_HUMAN Gap junction gamma-3 protein (sprot)


DPP10_HUMAN Inactive dipeptidyl peptidase 10 (sprot)


MA1A1_HUMAN Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA (sprot)


CC4L_HUMAN C-C motif chemokine 4-like (sprot)


JAGN1_HUMAN Protein jagunal homolog 1 (sprot)


COA8_HUMAN Cytochrome c oxidase assembly factor 8 (sprot)


PGLT1_HUMAN Protein O-glucosyltransferase 1 (sprot)


DGKG_HUMAN Diacylglycerol kinase gamma (sprot)


EME1_HUMAN Crossover junction endonuclease EME1 (sprot)


GRM2_HUMAN Metabotropic glutamate receptor 2 (sprot)


PLAC1_HUMAN Placenta-specific protein 1 (sprot)


RAB26_HUMAN Ras-related protein Rab-26 (sprot)


NIPS1_HUMAN Protein NipSnap homolog 1 (sprot)


IF5_HUMAN Eukaryotic translation initiation factor 5 (sprot)


CD1E_HUMAN T-cell surface glycoprotein CD1e, membrane-associated (sprot)


CC50B_HUMAN Cell cycle control protein 50B (sprot)


THADA_HUMAN Thyroid adenoma-associated protein (sprot)


GBG5_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 (sprot)


RGS16_HUMAN Regulator of G-protein signaling 16 (sprot)


TRPC1_HUMAN Short transient receptor potential channel 1 (sprot)


HLTF_HUMAN Helicase-like transcription factor (sprot)


FBXW9_HUMAN F-box/WD repeat-containing protein 9 (sprot)


ABRA_HUMAN Actin-binding Rho-activating protein (sprot)


NPS3A_HUMAN Protein NipSnap homolog 3A (sprot)


IF2B1_HUMAN Insulin-like growth factor 2 mRNA-binding protein 1 (sprot)


RN152_HUMAN E3 ubiquitin-protein ligase RNF152 (sprot)


COE2_HUMAN Transcription factor COE2 (sprot)


FIBA_HUMAN Fibrinogen alpha chain (sprot)


BCKD_HUMAN [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial (sprot)


NEK11_HUMAN Serine/threonine-protein kinase Nek11 (sprot)


AL3B2_HUMAN Aldehyde dehydrogenase family 3 member B2 (sprot)


SORL_HUMAN Sortilin-related receptor (sprot)


GATA2_HUMAN Endothelial transcription factor GATA-2 (sprot)


TAOK1_HUMAN Serine/threonine-protein kinase TAO1 (sprot)


SERF2_HUMAN Small EDRK-rich factor 2 (sprot)


CXA3_HUMAN Gap junction alpha-3 protein (sprot)


MA2B2_HUMAN Epididymis-specific alpha-mannosidase (sprot)


ILKAP_HUMAN Integrin-linked kinase-associated serine/threonine phosphatase 2C (sprot)


IF2A_HUMAN Eukaryotic translation initiation factor 2 subunit 1 (sprot)


FMNL2_HUMAN Formin-like protein 2 (sprot)


TIA1_HUMAN Cytotoxic granule associated RNA binding protein TIA1 (sprot)


DTX3_HUMAN Probable E3 ubiquitin-protein ligase DTX3 (sprot)


SPCS_HUMAN O-phosphoseryl-tRNA(Sec) selenium transferase (sprot)


DLRB2_HUMAN Dynein light chain roadblock-type 2 (sprot)


REEP4_HUMAN Receptor expression-enhancing protein 4 (sprot)


M4K2_HUMAN Mitogen-activated protein kinase kinase kinase kinase 2 (sprot)


facioscapulohumeral muscular dystrophy 2


TTLL9_HUMAN Probable tubulin polyglutamylase TTLL9 (sprot)


RAB23_HUMAN Ras-related protein Rab-23 (sprot)


K1C17_HUMAN Keratin, type I cytoskeletal 17 (sprot)


CE164_HUMAN Centrosomal protein of 164 kDa (sprot)


PKCB1_HUMAN Protein kinase C-binding protein 1 (sprot)


EPC1_HUMAN Enhancer of polycomb homolog 1 (sprot)


C2C4B_HUMAN C2 calcium-dependent domain-containing protein 4B (sprot)


CGAT2_HUMAN Chondroitin sulfate N-acetylgalactosaminyltransferase 2 (sprot)


KCNC2_HUMAN Potassium voltage-gated channel subfamily C member 2 (sprot)


RPF2_HUMAN Ribosome production factor 2 homolog (sprot)


autosomal recessive congenital ichthyosis 11


ST7_HUMAN Suppressor of tumorigenicity 7 protein (sprot)


SYTM_HUMAN Threonine--tRNA ligase, mitochondrial (sprot)


SRBD1_HUMAN S1 RNA-binding domain-containing protein 1 (sprot)


ZDH23_HUMAN Palmitoyltransferase ZDHHC23 (sprot)


AP5M1_HUMAN AP-5 complex subunit mu-1 (sprot)


ANFC_HUMAN C-type natriuretic peptide (sprot)


COPZ1_HUMAN Coatomer subunit zeta-1 (sprot)


SCP2_HUMAN Sterol carrier protein 2 (sprot)


primary pigmented nodular adrenocortical disease


GSTT2_HUMAN Glutathione S-transferase theta-2B (sprot)


congenital dyserythropoietic anemia type 4


TDIF2_HUMAN Deoxynucleotidyltransferase terminal-interacting protein 2 (sprot)


DOCK2_HUMAN Dedicator of cytokinesis protein 2 (sprot)


ACTHR_HUMAN Adrenocorticotropic hormone receptor (sprot)


SPTN4_HUMAN Spectrin beta chain, non-erythrocytic 4 (sprot)


UBE2S_HUMAN Ubiquitin-conjugating enzyme E2 S (sprot)


TCPR1_HUMAN Tectonin beta-propeller repeat-containing protein 1 (sprot)


SCNM1_HUMAN Sodium channel modifier 1 (sprot)


DLG2_HUMAN Disks large homolog 2 (sprot)


RM17_HUMAN 39S ribosomal protein L17, mitochondrial (sprot)


LEO1_HUMAN RNA polymerase-associated protein LEO1 (sprot)


STRAP_HUMAN Serine-threonine kinase receptor-associated protein (sprot)


TB10A_HUMAN TBC1 domain family member 10A (sprot)


KIFA3_HUMAN Kinesin-associated protein 3 (sprot)


BATF_HUMAN Basic leucine zipper transcriptional factor ATF-like (sprot)


CYFP1_HUMAN Cytoplasmic FMR1-interacting protein 1 (sprot)


CSF2R_HUMAN Granulocyte-macrophage colony-stimulating factor receptor subunit alpha (sprot)


S5A1_HUMAN 3-oxo-5-alpha-steroid 4-dehydrogenase 1 (sprot)


NYAP1_HUMAN Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1 (sprot)


LAP4A_HUMAN Lysosomal-associated transmembrane protein 4A (sprot)


IF4A2_HUMAN Eukaryotic initiation factor 4A-II (sprot)


RRP44_HUMAN Exosome complex exonuclease RRP44 (sprot)


ARPC5_HUMAN Actin-related protein 2/3 complex subunit 5 (sprot)


CPZIP_HUMAN CapZ-interacting protein (sprot)


NDUAD_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 (sprot)


PASD1_HUMAN Circadian clock protein PASD1 (sprot)


PATE1_HUMAN Prostate and testis expressed protein 1 (sprot)


EDNRB_HUMAN Endothelin receptor type B (sprot)


AGRA1_HUMAN Adhesion G protein-coupled receptor A1 (sprot)


TCPB_HUMAN T-complex protein 1 subunit beta (sprot)


LRFN3_HUMAN Leucine-rich repeat and fibronectin type-III domain-containing protein 3 (sprot)


DMRT1_HUMAN Doublesex- and mab-3-related transcription factor 1 (sprot)


TMM18_HUMAN Transmembrane protein 18 (sprot)


KPCA_HUMAN Protein kinase C alpha type (sprot)


ELF5_HUMAN ETS-related transcription factor Elf-5 (sprot)


WFDC2_HUMAN WAP four-disulfide core domain protein 2 (sprot)


TRPV3_HUMAN Transient receptor potential cation channel subfamily V member 3 (sprot)


MAML1_HUMAN Mastermind-like protein 1 (sprot)


B2L10_HUMAN Bcl-2-like protein 10 (sprot)


autosomal recessive nonsyndromic hearing loss 53


RL40_HUMAN Ubiquitin-60S ribosomal protein L40 (sprot)


TM14A_HUMAN Transmembrane protein 14A (sprot)


OLIG2_HUMAN Oligodendrocyte transcription factor 2 (sprot)


CAC1A_HUMAN Voltage-dependent P/Q-type calcium channel subunit alpha-1A (sprot)


TDRD9_HUMAN ATP-dependent RNA helicase TDRD9 (sprot)


DUS2L_HUMAN tRNA-dihydrouridine(20) synthase [NAD(P)+]-like (sprot)


SACA1_HUMAN Sperm acrosome membrane-associated protein 1 (sprot)


CEA21_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 21 (sprot)


PMS2_HUMAN Mismatch repair endonuclease PMS2 (sprot)


NCF4_HUMAN Neutrophil cytosol factor 4 (sprot)


MCM7_HUMAN DNA replication licensing factor MCM7 (sprot)


CO4A4_HUMAN Collagen alpha-4(IV) chain (sprot)


DHX34_HUMAN Probable ATP-dependent RNA helicase DHX34 (sprot)


ELMD3_HUMAN ELMO domain-containing protein 3 (sprot)


FANCA_HUMAN Fanconi anemia group A protein (sprot)


CNOT2_HUMAN CCR4-NOT transcription complex subunit 2 (sprot)


GDNF_HUMAN Glial cell line-derived neurotrophic factor (sprot)


GDE_HUMAN Glycogen debranching enzyme (sprot)


TM165_HUMAN Transmembrane protein 165 (sprot)


IRX4_HUMAN Iroquois-class homeodomain protein IRX-4 (sprot)


STK24_HUMAN Serine/threonine-protein kinase 24 (sprot)


S12A4_HUMAN Solute carrier family 12 member 4 (sprot)


STAR5_HUMAN StAR-related lipid transfer protein 5 (sprot)


CAPG_HUMAN Macrophage-capping protein (sprot)


WDR75_HUMAN WD repeat-containing protein 75 (sprot)


TPC6A_HUMAN Trafficking protein particle complex subunit 6A (sprot)


RPGF5_HUMAN Rap guanine nucleotide exchange factor 5 (sprot)


UD2B4_HUMAN UDP-glucuronosyltransferase 2B4 (sprot)


PI16_HUMAN Peptidase inhibitor 16 (sprot)


DYH7_HUMAN Dynein axonemal heavy chain 7 (sprot)


FOXA1_HUMAN Hepatocyte nuclear factor 3-alpha (sprot)


CENPF_HUMAN Centromere protein F (sprot)


UBP25_HUMAN Ubiquitin carboxyl-terminal hydrolase 25 (sprot)


GBRR1_HUMAN Gamma-aminobutyric acid receptor subunit rho-1 (sprot)


HPS3_HUMAN BLOC-2 complex member HPS3 (sprot)


SORC1_HUMAN VPS10 domain-containing receptor SorCS1 (sprot)


K2C80_HUMAN Keratin, type II cytoskeletal 80 (sprot)


stapes ankylosis with broad thumbs and toes


DEN1A_HUMAN DENN domain-containing protein 1A (sprot)


JAK2_HUMAN Tyrosine-protein kinase JAK2 (sprot)


AEDO_HUMAN 2-aminoethanethiol dioxygenase (sprot)


CTF18_HUMAN Chromosome transmission fidelity protein 18 homolog (sprot)


ACO11_HUMAN Acyl-coenzyme A thioesterase 11 (sprot)


RAMP2_HUMAN Receptor activity-modifying protein 2 (sprot)


HJURP_HUMAN Holliday junction recognition protein (sprot)


FXL14_HUMAN F-box/LRR-repeat protein 14 (sprot)


CAVN4_HUMAN Caveolae-associated protein 4 (sprot)


NFKB2_HUMAN Nuclear factor NF-kappa-B p100 subunit (sprot)


RWDD4_HUMAN RWD domain-containing protein 4 (sprot)


FCGRB_HUMAN Putative high affinity immunoglobulin gamma Fc receptor IB (sprot)


IPYR_HUMAN Inorganic pyrophosphatase (sprot)


autosomal recessive limb-girdle muscular dystrophy type 2G


NECP1_HUMAN Adaptin ear-binding coat-associated protein 1 (sprot)


FGF20_HUMAN Fibroblast growth factor 20 (sprot)


familial hyperreninemic hypoaldosteronism type 1


I10R1_HUMAN Interleukin-10 receptor subunit alpha (sprot)


CBX2_HUMAN Chromobox protein homolog 2 (sprot)


ESYT1_HUMAN Extended synaptotagmin-1 (sprot)


PABP3_HUMAN Polyadenylate-binding protein 3 (sprot)


CENPV_HUMAN Centromere protein V (sprot)


SLIT1_HUMAN Slit homolog 1 protein (sprot)


murine acquired immunodeficiency syndrome


MOT7_HUMAN Monocarboxylate transporter 7 (sprot)


OR5I1_HUMAN Olfactory receptor 5I1 (sprot)


SSR3_HUMAN Somatostatin receptor type 3 (sprot)


MSMP_HUMAN Prostate-associated microseminoprotein (sprot)


VEZF1_HUMAN Vascular endothelial zinc finger 1 (sprot)


HYLS1_HUMAN Centriolar and ciliogenesis-associated protein HYLS1 (sprot)


SIRPG_HUMAN Signal-regulatory protein gamma (sprot)


PWP2B_HUMAN PWWP domain-containing protein 2B (sprot)


EI2BB_HUMAN Translation initiation factor eIF-2B subunit beta (sprot)


AT8B1_HUMAN Phospholipid-transporting ATPase IC (sprot)


AEBP2_HUMAN Zinc finger protein AEBP2 (sprot)


NEPR1_HUMAN Nuclear envelope phosphatase-regulatory subunit 1 (sprot)


NRIP1_HUMAN Nuclear receptor-interacting protein 1 (sprot)


SYNM_HUMAN Probable asparagine--tRNA ligase, mitochondrial (sprot)


IKBE_HUMAN NF-kappa-B inhibitor epsilon (sprot)


RN5A_HUMAN 2-5A-dependent ribonuclease (sprot)


KAT8_HUMAN Histone acetyltransferase KAT8 (sprot)


CABP7_HUMAN Calcium-binding protein 7 (sprot)


KDM4D_HUMAN Lysine-specific demethylase 4D (sprot)


MK12_HUMAN Mitogen-activated protein kinase 12 (sprot)


KLF7_HUMAN Krueppel-like factor 7 (sprot)


CASR_HUMAN Extracellular calcium-sensing receptor (sprot)


FRDA_HUMAN Frataxin, mitochondrial (sprot)


chronic acquired demyelinating polyneuropathy


P55G_HUMAN Phosphatidylinositol 3-kinase regulatory subunit gamma (sprot)


DP13B_HUMAN DCC-interacting protein 13-beta (sprot)


psoriasis-related juvenile idiopathic arthritis


SOX14_HUMAN Transcription factor SOX-14 (sprot)


GLHA_HUMAN Glycoprotein hormones alpha chain (sprot)


ACSA_HUMAN Acetyl-coenzyme A synthetase, cytoplasmic (sprot)


LSHB_HUMAN Lutropin subunit beta (sprot)


LIF_HUMAN Leukemia inhibitory factor (sprot)


VTDB_HUMAN Vitamin D-binding protein (sprot)


EAF1_HUMAN ELL-associated factor 1 (sprot)


CTRL_HUMAN Chymotrypsin-like protease CTRL-1 (sprot)


GDF11_HUMAN Growth/differentiation factor 11 (sprot)


N4BP2_HUMAN NEDD4-binding protein 2 (sprot)


RLBP1_HUMAN Retinaldehyde-binding protein 1 (sprot)


NR5A2_HUMAN Nuclear receptor subfamily 5 group A member 2 (sprot)


DPP6_HUMAN Dipeptidyl aminopeptidase-like protein 6 (sprot)


ZNF77_HUMAN Zinc finger protein 77 (sprot)


MRTFA_HUMAN Myocardin-related transcription factor A (sprot)


CDYL2_HUMAN Chromodomain Y-like protein 2 (sprot)


RL24_HUMAN 60S ribosomal protein L24 (sprot)


KCAB1_HUMAN Voltage-gated potassium channel subunit beta-1 (sprot)


HS3SB_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 (sprot)


TA2R3_HUMAN Taste receptor type 2 member 3 (sprot)


SLFN5_HUMAN Schlafen family member 5 (sprot)


HNRPL_HUMAN Heterogeneous nuclear ribonucleoprotein L (sprot)


TEX9_HUMAN Testis-expressed protein 9 (sprot)


HP1B3_HUMAN Heterochromatin protein 1-binding protein 3 (sprot)


CLN6_HUMAN Ceroid-lipofuscinosis neuronal protein 6 (sprot)


DNJC9_HUMAN DnaJ homolog subfamily C member 9 (sprot)


Ehlers-Danlos syndrome due to tenascin-X deficiency


CXCL6_HUMAN C-X-C motif chemokine 6 (sprot)


CECR2_HUMAN Chromatin remodeling regulator CECR2 (sprot)


SG3A2_HUMAN Secretoglobin family 3A member 2 (sprot)


hereditary sensory and autonomic neuropathy type 2


KDM3A_HUMAN Lysine-specific demethylase 3A (sprot)


autosomal dominant Emery-Dreifuss muscular dystrophy


S36A2_HUMAN Proton-coupled amino acid transporter 2 (sprot)


CTGE4_HUMAN cTAGE family member 4 (sprot)


WDR83_HUMAN WD repeat domain-containing protein 83 (sprot)


ZN704_HUMAN Zinc finger protein 704 (sprot)


KIF22_HUMAN Kinesin-like protein KIF22 (sprot)


CHPF2_HUMAN Chondroitin sulfate glucuronyltransferase (sprot)


RAB44_HUMAN Ras-related protein Rab-44 (sprot)


LFA3_HUMAN Lymphocyte function-associated antigen 3 (sprot)


acute megakaryoblastic leukemia in down syndrome


IF4E2_HUMAN Eukaryotic translation initiation factor 4E type 2 (sprot)


MUL1_HUMAN Mitochondrial ubiquitin ligase activator of NFKB 1 (sprot)


CALL3_HUMAN Calmodulin-like protein 3 (sprot)


porcine postweaning multisystemic wasting syndrome


PXYP1_HUMAN 2-phosphoxylose phosphatase 1 (sprot)


FGF17_HUMAN Fibroblast growth factor 17 (sprot)


P5I13_HUMAN Tumor protein p53-inducible protein 13 (sprot)


LSM2_HUMAN U6 snRNA-associated Sm-like protein LSm2 (sprot)


PCBP1_HUMAN Poly(rC)-binding protein 1 (sprot)


peripheral primitive neuroectodermal tumor of bone


GBG10_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10 (sprot)


CHSP1_HUMAN Calcium-regulated heat-stable protein 1 (sprot)


EMC3_HUMAN ER membrane protein complex subunit 3 (sprot)


KLH21_HUMAN Kelch-like protein 21 (sprot)


congenital absence of upper arm and forearm with hand present


qualitative or quantitative defects of dystrophin


congenital reticular ichthyosiform erythroderma


XIRP1_HUMAN Xin actin-binding repeat-containing protein 1 (sprot)


medullomyoblastoma with myogenic differentiation


Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly


GPDA_HUMAN Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic (sprot)


HIG2A_HUMAN HIG1 domain family member 2A, mitochondrial (sprot)


IPYR2_HUMAN Inorganic pyrophosphatase 2, mitochondrial (sprot)


VPS52_HUMAN Vacuolar protein sorting-associated protein 52 homolog (sprot)


JAK3_HUMAN Tyrosine-protein kinase JAK3 (sprot)


NLRP3_HUMAN NACHT, LRR and PYD domains-containing protein 3 (sprot)


TACC2_HUMAN Transforming acidic coiled-coil-containing protein 2 (sprot)


LETM1_HUMAN Mitochondrial proton/calcium exchanger protein (sprot)


FKB15_HUMAN FK506-binding protein 15 (sprot)


GLI3_HUMAN Transcriptional activator GLI3 (sprot)


TMED1_HUMAN Transmembrane emp24 domain-containing protein 1 (sprot)


HCK_HUMAN Tyrosine-protein kinase HCK (sprot)


DLGP4_HUMAN Disks large-associated protein 4 (sprot)


UTP15_HUMAN U3 small nucleolar RNA-associated protein 15 homolog (sprot)


CRBG3_HUMAN Very large A-kinase anchor protein (sprot)


CRAC1_HUMAN Cartilage acidic protein 1 (sprot)


CK2N1_HUMAN Calcium/calmodulin-dependent protein kinase II inhibitor 1 (sprot)


microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability


PTHR_HUMAN Parathyroid hormone-related protein (sprot)


BPIB2_HUMAN BPI fold-containing family B member 2 (sprot)


MPIP3_HUMAN M-phase inducer phosphatase 3 (sprot)


BBS10_HUMAN Bardet-Biedl syndrome 10 protein (sprot)


KIRR2_HUMAN Kin of IRRE-like protein 2 (sprot)


AVPI1_HUMAN Arginine vasopressin-induced protein 1 (sprot)


DSEL_HUMAN Dermatan-sulfate epimerase-like protein (sprot)


ECEL1_HUMAN Endothelin-converting enzyme-like 1 (sprot)


SMPX_HUMAN Small muscular protein (sprot)


TSNAX_HUMAN Translin-associated protein X (sprot)


Langerhans cell histiocytosis specific to adulthood


SGSM3_HUMAN Small G protein signaling modulator 3 (sprot)


AACS_HUMAN Acetoacetyl-CoA synthetase (sprot)


MBTD1_HUMAN MBT domain-containing protein 1 (sprot)


BRCA2_HUMAN Breast cancer type 2 susceptibility protein (sprot)


ASSY_HUMAN Argininosuccinate synthase (sprot)


maternally-inherited diabetes and deafness


RIMS4_HUMAN Regulating synaptic membrane exocytosis protein 4 (sprot)


FOXB2_HUMAN Forkhead box protein B2 (sprot)


CKP2L_HUMAN Cytoskeleton-associated protein 2-like (sprot)


NDEL1_HUMAN Nuclear distribution protein nudE-like 1 (sprot)


GMCL1_HUMAN Germ cell-less protein-like 1 (sprot)


TRI16_HUMAN Tripartite motif-containing protein 16 (sprot)


TMPS3_HUMAN Transmembrane protease serine 3 (sprot)


BIK_HUMAN Bcl-2-interacting killer (sprot)


ZFP90_HUMAN Zinc finger protein 90 homolog (sprot)


GNPI2_HUMAN Glucosamine-6-phosphate isomerase 2 (sprot)


TRM5_HUMAN tRNA (guanine(37)-N1)-methyltransferase (sprot)


PNPH_HUMAN Purine nucleoside phosphorylase (sprot)


ENTP6_HUMAN Ectonucleoside triphosphate diphosphohydrolase 6 (sprot)


RBMX2_HUMAN RNA-binding motif protein, X-linked 2 (sprot)


PP6R1_HUMAN Serine/threonine-protein phosphatase 6 regulatory subunit 1 (sprot)


TBB2B_HUMAN Tubulin beta-2B chain (sprot)


CANB2_HUMAN Calcineurin subunit B type 2 (sprot)


T-cell immunodeficiency, congenital alopecia, and nail dystrophy


systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease


LOXL3_HUMAN Lysyl oxidase homolog 3 (sprot)


ALKB2_HUMAN DNA oxidative demethylase ALKBH2 (sprot)


CCKAR_HUMAN Cholecystokinin receptor type A (sprot)


IPRI_HUMAN Inositol 1,4,5-trisphosphate receptor-interacting protein (sprot)


ATOH8_HUMAN Transcription factor ATOH8 (sprot)


WBP2L_HUMAN Postacrosomal sheath WW domain-binding protein (sprot)


TA2R4_HUMAN Taste receptor type 2 member 4 (sprot)


F111A_HUMAN Serine protease FAM111A (sprot)


MSRA_HUMAN Mitochondrial peptide methionine sulfoxide reductase (sprot)


SAC1_HUMAN Phosphatidylinositol-3-phosphatase SAC1 (sprot)


PTPRT_HUMAN Receptor-type tyrosine-protein phosphatase T (sprot)


GP139_HUMAN Probable G-protein coupled receptor 139 (sprot)


TM10A_HUMAN tRNA methyltransferase 10 homolog A (sprot)


CEP55_HUMAN Centrosomal protein of 55 kDa (sprot)


CINP_HUMAN Cyclin-dependent kinase 2-interacting protein (sprot)


nephrogenic syndrome of inappropriate antidiuresis


Stachybotrys chartarum allergenic extract


IKZF4_HUMAN Zinc finger protein Eos (sprot)


PRDM9_HUMAN Histone-lysine N-methyltransferase PRDM9 (sprot)


LONM_HUMAN Lon protease homolog, mitochondrial (sprot)


MAEA_HUMAN E3 ubiquitin-protein transferase MAEA (sprot)


RL10A_HUMAN 60S ribosomal protein L10a (sprot)


autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


APC10_HUMAN Anaphase-promoting complex subunit 10 (sprot)


ACHA6_HUMAN Neuronal acetylcholine receptor subunit alpha-6 (sprot)


AHDC1_HUMAN Transcription factor Gibbin (sprot)


PRR9_HUMAN Proline-rich protein 9 (sprot)


LRC42_HUMAN Leucine-rich repeat-containing protein 42 (sprot)


AT133_HUMAN Polyamine-transporting ATPase 13A3 (sprot)


acromesomelic dysplasia 2C, Hunter-Thompson type


GIT2_HUMAN ARF GTPase-activating protein GIT2 (sprot)


acromesomelic dysplasia 1, Maroteaux type


NDF4_HUMAN Neurogenic differentiation factor 4 (sprot)


GDIR2_HUMAN Rho GDP-dissociation inhibitor 2 (sprot)


FABPH_HUMAN Fatty acid-binding protein, heart (sprot)


PGPIL_HUMAN Pyroglutamyl-peptidase 1-like protein (sprot)


CDK8_HUMAN Cyclin-dependent kinase 8 (sprot)


ARL6_HUMAN ADP-ribosylation factor-like protein 6 (sprot)


PAN2_HUMAN PAN2-PAN3 deadenylation complex catalytic subunit PAN2 (sprot)


PR15B_HUMAN Protein phosphatase 1 regulatory subunit 15B (sprot)


HGS_HUMAN Hepatocyte growth factor-regulated tyrosine kinase substrate (sprot)


HES1_HUMAN Transcription factor HES-1 (sprot)


SDHL_HUMAN L-serine dehydratase/L-threonine deaminase (sprot)


MYBPP_HUMAN MYCBP-associated protein (sprot)


RGS17_HUMAN Regulator of G-protein signaling 17 (sprot)


childhood onset GLUT1 deficiency syndrome 2


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency


UB2V2_HUMAN Ubiquitin-conjugating enzyme E2 variant 2 (sprot)


KLH15_HUMAN Kelch-like protein 15 (sprot)


TXN4A_HUMAN Thioredoxin-like protein 4A (sprot)


HSF2B_HUMAN Heat shock factor 2-binding protein (sprot)


TPMT_HUMAN Thiopurine S-methyltransferase (sprot)


hereditary sensory and autonomic neuropathy type 5


IF122_HUMAN Intraflagellar transport protein 122 homolog (sprot)


C1R_HUMAN Complement C1r subcomponent (sprot)


LTBP2_HUMAN Latent-transforming growth factor beta-binding protein 2 (sprot)


DIAP1_HUMAN Protein diaphanous homolog 1 (sprot)


MCL1_HUMAN Induced myeloid leukemia cell differentiation protein Mcl-1 (sprot)


ADA2B_HUMAN Alpha-2B adrenergic receptor (sprot)


PO210_HUMAN Nuclear pore membrane glycoprotein 210 (sprot)


isolated thyroid-stimulating hormone deficiency


ACV1B_HUMAN Activin receptor type-1B (sprot)


adult-onset foveomacular vitelliform dystrophy


Pseudomonas aeruginosa infectious disease


SYVM_HUMAN Valine--tRNA ligase, mitochondrial (sprot)


M4A4A_HUMAN Membrane-spanning 4-domains subfamily A member 4A (sprot)


TUSC2_HUMAN Tumor suppressor candidate 2 (sprot)


UBP19_HUMAN Ubiquitin carboxyl-terminal hydrolase 19 (sprot)


THOC4_HUMAN THO complex subunit 4 (sprot)


STAR3_HUMAN StAR-related lipid transfer protein 3 (sprot)


GTSF1_HUMAN Gametocyte-specific factor 1 (sprot)


IFT81_HUMAN Intraflagellar transport protein 81 homolog (sprot)


PRR5_HUMAN Proline-rich protein 5 (sprot)


ACADV_HUMAN Very long-chain specific acyl-CoA dehydrogenase, mitochondrial (sprot)


peripheral T-cell lymphoma, not otherwise specified


TCF21_HUMAN Transcription factor 21 (sprot)


ZFP57_HUMAN Zinc finger protein 57 homolog (sprot)


KLF15_HUMAN Krueppel-like factor 15 (sprot)


RHBL2_HUMAN Rhomboid-related protein 2 (sprot)


KCNG3_HUMAN Potassium voltage-gated channel subfamily G member 3 (sprot)


ALG13_HUMAN Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 (sprot)


ECHD3_HUMAN Enoyl-CoA hydratase domain-containing protein 3, mitochondrial (sprot)


FGF8_HUMAN Fibroblast growth factor 8 (sprot)


TOM70_HUMAN Mitochondrial import receptor subunit TOM70 (sprot)


DHRS9_HUMAN Dehydrogenase/reductase SDR family member 9 (sprot)


MARCS_HUMAN Myristoylated alanine-rich C-kinase substrate (sprot)


TCP1L_HUMAN T-complex protein 10A homolog 1 (sprot)


MLRA_HUMAN Myosin regulatory light chain 2, atrial isoform (sprot)


DCMC_HUMAN Malonyl-CoA decarboxylase, mitochondrial (sprot)


DNJB5_HUMAN DnaJ homolog subfamily B member 5 (sprot)


SATB2_HUMAN DNA-binding protein SATB2 (sprot)


PKHA3_HUMAN Pleckstrin homology domain-containing family A member 3 (sprot)


DNSL3_HUMAN Deoxyribonuclease gamma (sprot)


DPM2_HUMAN Dolichol phosphate-mannose biosynthesis regulatory protein (sprot)


SRBP2_HUMAN Sterol regulatory element-binding protein 2 (sprot)


EGLN2_HUMAN Prolyl hydroxylase EGLN2 (sprot)


IVD_HUMAN Isovaleryl-CoA dehydrogenase, mitochondrial (sprot)


NTCP4_HUMAN Sodium/bile acid cotransporter 4 (sprot)


PLPL7_HUMAN Patatin-like phospholipase domain-containing protein 7 (sprot)


ICA69_HUMAN Islet cell autoantigen 1 (sprot)


ARM10_HUMAN Armadillo repeat-containing protein 10 (sprot)


MYO1D_HUMAN Unconventional myosin-Id (sprot)


RL21_HUMAN 60S ribosomal protein L21 (sprot)


ACHA5_HUMAN Neuronal acetylcholine receptor subunit alpha-5 (sprot)


LCE1B_HUMAN Late cornified envelope protein 1B (sprot)


TEFM_HUMAN Transcription elongation factor, mitochondrial (sprot)


UBP37_HUMAN Ubiquitin carboxyl-terminal hydrolase 37 (sprot)


PCNA_HUMAN Proliferating cell nuclear antigen (sprot)


GSTA5_HUMAN Glutathione S-transferase A5 (sprot)


VGLL3_HUMAN Transcription cofactor vestigial-like protein 3 (sprot)


NAA20_HUMAN N-alpha-acetyltransferase 20 (sprot)


pseudoxanthoma elasticum (inherited or acquired)


GIPC3_HUMAN PDZ domain-containing protein GIPC3 (sprot)


PAMR1_HUMAN Inactive serine protease PAMR1 (sprot)


TBC14_HUMAN TBC1 domain family member 14 (sprot)


RNFT1_HUMAN E3 ubiquitin-protein ligase RNFT1 (sprot)


TBA8_HUMAN Tubulin alpha-8 chain (sprot)


UCHL1_HUMAN Ubiquitin carboxyl-terminal hydrolase isozyme L1 (sprot)


MAFA_HUMAN Transcription factor MafA (sprot)


ACTBL_HUMAN Beta-actin-like protein 2 (sprot)


renal pelvis/ureter urothelial carcinoma


LX12B_HUMAN Arachidonate 12-lipoxygenase, 12R-type (sprot)


OPSR_HUMAN Long-wave-sensitive opsin 1 (sprot)


DTX4_HUMAN E3 ubiquitin-protein ligase DTX4 (sprot)


pyogenic arthritis-pyoderma gangrenosum-acne syndrome


CCL18_HUMAN C-C motif chemokine 18 (sprot)


S35F2_HUMAN Solute carrier family 35 member F2 (sprot)


ZBT46_HUMAN Zinc finger and BTB domain-containing protein 46 (sprot)


COG5-congenital disorder of glycosylation


VAMP3_HUMAN Vesicle-associated membrane protein 3 (sprot)


CENPK_HUMAN Centromere protein K (sprot)


MTND_HUMAN Acireductone dioxygenase (sprot)


HERC1_HUMAN Probable E3 ubiquitin-protein ligase HERC1 (sprot)


short stature-optic atrophy-Pelger-HuC+t anomaly syndrome


TLCD4_HUMAN TLC domain-containing protein 4 (sprot)


non-functioning pituitary gland neoplasm


INT2_HUMAN Integrator complex subunit 2 (sprot)


ASF1A_HUMAN Histone chaperone ASF1A (sprot)


AEGP_HUMAN Apical endosomal glycoprotein (sprot)


NNMT_HUMAN Nicotinamide N-methyltransferase (sprot)


ACTL8_HUMAN Actin-like protein 8 (sprot)


HMGA2_HUMAN High mobility group protein HMGI-C (sprot)


COT1_HUMAN COUP transcription factor 1 (sprot)


ARMC1_HUMAN Armadillo repeat-containing protein 1 (sprot)


GIP_HUMAN Gastric inhibitory polypeptide (sprot)


PARI_HUMAN PCNA-interacting partner (sprot)


DHB1_HUMAN 17-beta-hydroxysteroid dehydrogenase type 1 (sprot)


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1


GPIX_HUMAN Platelet glycoprotein IX (sprot)


CADM1_HUMAN Cell adhesion molecule 1 (sprot)


SERC2_HUMAN Serine incorporator 2 (sprot)


RNF43_HUMAN E3 ubiquitin-protein ligase RNF43 (sprot)


UBP22_HUMAN Ubiquitin carboxyl-terminal hydrolase 22 (sprot)


KRA13_HUMAN Keratin-associated protein 1-3 (sprot)


PDP2_HUMAN [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial (sprot)


RUFY1_HUMAN RUN and FYVE domain-containing protein 1 (sprot)


KI2S3_HUMAN Killer cell immunoglobulin-like receptor 2DS3 (sprot)


osteosarcoma arising in bone Paget disease


HAUS8_HUMAN HAUS augmin-like complex subunit 8 (sprot)


M3K5_HUMAN Mitogen-activated protein kinase kinase kinase 5 (sprot)


TRM11_HUMAN tRNA (guanine(10)-N2)-methyltransferase homolog (sprot)


GTD2A_HUMAN General transcription factor II-I repeat domain-containing protein 2A (sprot)


PLPP3_HUMAN Phospholipid phosphatase 3 (sprot)


DHE4_HUMAN Glutamate dehydrogenase 2, mitochondrial (sprot)


NEK1_HUMAN Serine/threonine-protein kinase Nek1 (sprot)


GCC2_HUMAN GRIP and coiled-coil domain-containing protein 2 (sprot)


PPIA_HUMAN Peptidyl-prolyl cis-trans isomerase A (sprot)


ASA2B_HUMAN Putative inactive neutral ceramidase B (sprot)


acute motor and sensory axonal neuropathy


T2EB_HUMAN Transcription initiation factor IIE subunit beta (sprot)


GG6L2_HUMAN Golgin subfamily A member 6-like protein 2 (sprot)


MVD1_HUMAN Diphosphomevalonate decarboxylase (sprot)


ATG3_HUMAN Ubiquitin-like-conjugating enzyme ATG3 (sprot)


TM234_HUMAN Transmembrane protein 234 (sprot)


GPR17_HUMAN Uracil nucleotide/cysteinyl leukotriene receptor (sprot)


NFS1_HUMAN Cysteine desulfurase, mitochondrial (sprot)


CEBPZ_HUMAN CCAAT/enhancer-binding protein zeta (sprot)


UBXN7_HUMAN UBX domain-containing protein 7 (sprot)


P3C2A_HUMAN Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha (sprot)


RB15B_HUMAN Putative RNA-binding protein 15B (sprot)


NAT8B_HUMAN Putative N-acetyltransferase 8B (sprot)


PRIC1_HUMAN Prickle-like protein 1 (sprot)


LIN52_HUMAN Protein lin-52 homolog (sprot)


TGFR1_HUMAN TGF-beta receptor type-1 (sprot)


MAD1_HUMAN Max dimerization protein 1 (sprot)


PKHM1_HUMAN Pleckstrin homology domain-containing family M member 1 (sprot)


NSUN3_HUMAN tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial (sprot)


S13A4_HUMAN Solute carrier family 13 member 4 (sprot)


CKS2_HUMAN Cyclin-dependent kinases regulatory subunit 2 (sprot)


WIF1_HUMAN Wnt inhibitory factor 1 (sprot)


GSH0_HUMAN Glutamate--cysteine ligase regulatory subunit (sprot)


RT35_HUMAN 28S ribosomal protein S35, mitochondrial (sprot)


DUS16_HUMAN Dual specificity protein phosphatase 16 (sprot)


ISCU_HUMAN Iron-sulfur cluster assembly enzyme ISCU, mitochondrial (sprot)


ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 (sprot)


CDA7L_HUMAN Cell division cycle-associated 7-like protein (sprot)


TRPC7_HUMAN Short transient receptor potential channel 7 (sprot)


ZFP1_HUMAN Zinc finger protein 1 homolog (sprot)


ABCB5_HUMAN ATP-binding cassette sub-family B member 5 (sprot)


IBPL1_HUMAN Insulin-like growth factor-binding protein-like 1 (sprot)


BCAT1_HUMAN Branched-chain-amino-acid aminotransferase, cytosolic (sprot)


PIGU_HUMAN Phosphatidylinositol glycan anchor biosynthesis class U protein (sprot)


SRSF2_HUMAN Serine/arginine-rich splicing factor 2 (sprot)


BHA09_HUMAN Class A basic helix-loop-helix protein 9 (sprot)


RPN2_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 (sprot)


RHG15_HUMAN Rho GTPase-activating protein 15 (sprot)


ULBP5_HUMAN UL-16 binding protein 5 (sprot)


SC22C_HUMAN Vesicle-trafficking protein SEC22c (sprot)


GOT1A_HUMAN Vesicle transport protein GOT1A (sprot)


IDI1_HUMAN Isopentenyl-diphosphate Delta-isomerase 1 (sprot)


JAZF1_HUMAN Juxtaposed with another zinc finger protein 1 (sprot)


KAT1_HUMAN Kynurenine--oxoglutarate transaminase 1 (sprot)


PI51B_HUMAN Phosphatidylinositol 4-phosphate 5-kinase type-1 beta (sprot)


S39AA_HUMAN Zinc transporter ZIP10 (sprot)


LAT1_HUMAN Large neutral amino acids transporter small subunit 1 (sprot)


primary cutaneous T-cell non-Hodgkin lymphoma


steroid-responsive encephalopathy associated with autoimmune thyroiditis


PC11Y_HUMAN Protocadherin-11 Y-linked (sprot)


combined hamartoma of the retina and retinal pigment epithelium


NUP85_HUMAN Nuclear pore complex protein Nup85 (sprot)


OXA1L_HUMAN Mitochondrial inner membrane protein OXA1L (sprot)