autosomal dominant cerebellar ataxia type II


PTPRQ_HUMAN Phosphatidylinositol phosphatase PTPRQ (sprot)


PSMD7_HUMAN 26S proteasome non-ATPase regulatory subunit 7 (sprot)


FRPD1_HUMAN FERM and PDZ domain-containing protein 1 (sprot)


ZNFX1_HUMAN NFX1-type zinc finger-containing protein 1 (sprot)


melanoma, cutaneous malignant, susceptibility to, 2


MINY2_HUMAN Ubiquitin carboxyl-terminal hydrolase MINDY-2 (sprot)


DJB13_HUMAN DnaJ homolog subfamily B member 13 (sprot)


P4R3A_HUMAN Serine/threonine-protein phosphatase 4 regulatory subunit 3A (sprot)


MYO1F_HUMAN Unconventional myosin-If (sprot)


KCNK7_HUMAN Potassium channel subfamily K member 7 (sprot)


MET2B_HUMAN tRNA N(3)-methylcytidine methyltransferase METTL2B (sprot)


BT3A1_HUMAN Butyrophilin subfamily 3 member A1 (sprot)


NKX28_HUMAN Homeobox protein Nkx-2.8 (sprot)


APC5_HUMAN Anaphase-promoting complex subunit 5 (sprot)


PCDB6_HUMAN Protocadherin beta-6 (sprot)


BAZ1B_HUMAN Tyrosine-protein kinase BAZ1B (sprot)


TOP3A_HUMAN DNA topoisomerase 3-alpha (sprot)


PF4V_HUMAN Platelet factor 4 variant (sprot)


MIPO1_HUMAN Mirror-image polydactyly gene 1 protein (sprot)


SC6A6_HUMAN Sodium- and chloride-dependent taurine transporter (sprot)


DIRC1_HUMAN Disrupted in renal carcinoma protein 1 (sprot)


GBG11_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 (sprot)


MTNA_HUMAN Methylthioribose-1-phosphate isomerase (sprot)


GET1_HUMAN Guided entry of tail-anchored proteins factor 1 (sprot)


FOXS1_HUMAN Forkhead box protein S1 (sprot)


CEBPB_HUMAN CCAAT/enhancer-binding protein beta (sprot)


SAT2_HUMAN Thialysine N-epsilon-acetyltransferase (sprot)


DAZ2_HUMAN Deleted in azoospermia protein 2 (sprot)


GFAP_HUMAN Glial fibrillary acidic protein (sprot)


EGFR_HUMAN Epidermal growth factor receptor (sprot)


PAQR1_HUMAN Adiponectin receptor protein 1 (sprot)


torsin-1A-interacting protein 2 isoform IFRG15 (human)


EIF2A_HUMAN Eukaryotic translation initiation factor 2A (sprot)


RAPH1_HUMAN Ras-associated and pleckstrin homology domains-containing protein 1 (sprot)


PRP4_HUMAN U4/U6 small nuclear ribonucleoprotein Prp4 (sprot)


SRSF1_HUMAN Serine/arginine-rich splicing factor 1 (sprot)


DDX53_HUMAN Probable ATP-dependent RNA helicase DDX53 (sprot)


OCEL1_HUMAN Occludin/ELL domain-containing protein 1 (sprot)


GOGA1_HUMAN Golgin subfamily A member 1 (sprot)


RNF25_HUMAN E3 ubiquitin-protein ligase RNF25 (sprot)


ACOX2_HUMAN Peroxisomal acyl-coenzyme A oxidase 2 (sprot)


VMA5A_HUMAN von Willebrand factor A domain-containing protein 5A (sprot)


TLR10_HUMAN Toll-like receptor 10 (sprot)


SMD2_HUMAN Small nuclear ribonucleoprotein Sm D2 (sprot)


TFDP3_HUMAN Transcription factor Dp family member 3 (sprot)


KDM5D_HUMAN Lysine-specific demethylase 5D (sprot)


CBLC_HUMAN E3 ubiquitin-protein ligase CBL-C (sprot)


muscular dystrophy-dystroglycanopathy type B5


RHG28_HUMAN Rho GTPase-activating protein 28 (sprot)


RPC5_HUMAN DNA-directed RNA polymerase III subunit RPC5 (sprot)


LCP2_HUMAN Lymphocyte cytosolic protein 2 (sprot)


ZGLP1_HUMAN GATA-type zinc finger protein 1 (sprot)


NAIF1_HUMAN Nuclear apoptosis-inducing factor 1 (sprot)


CNDP1_HUMAN Beta-Ala-His dipeptidase (sprot)


GRM7_HUMAN Metabotropic glutamate receptor 7 (sprot)


SETMR_HUMAN Histone-lysine N-methyltransferase SETMAR (sprot)


SLIK5_HUMAN SLIT and NTRK-like protein 5 (sprot)


sinoatrial node dysfunction and deafness


ZN322_HUMAN Zinc finger protein 322 (sprot)


MARE1_HUMAN Microtubule-associated protein RP/EB family member 1 (sprot)


ARFG2_HUMAN ADP-ribosylation factor GTPase-activating protein 2 (sprot)


TTC37_HUMAN Tetratricopeptide repeat protein 37 (sprot)


TTI1_HUMAN TELO2-interacting protein 1 homolog (sprot)


LOX12_HUMAN Polyunsaturated fatty acid lipoxygenase ALOX12 (sprot)


CLC5A_HUMAN C-type lectin domain family 5 member A (sprot)


MGST2_HUMAN Microsomal glutathione S-transferase 2 (sprot)


ODPB_HUMAN Pyruvate dehydrogenase E1 component subunit beta, mitochondrial (sprot)


TTC1_HUMAN Tetratricopeptide repeat protein 1 (sprot)


FHL1_HUMAN Four and a half LIM domains protein 1 (sprot)


ANR27_HUMAN Ankyrin repeat domain-containing protein 27 (sprot)


CFA44_HUMAN Cilia- and flagella-associated protein 44 (sprot)


KNTC1_HUMAN Kinetochore-associated protein 1 (sprot)


MITOK_HUMAN Mitochondrial potassium channel (sprot)


autosomal dominant familial periodic fever


SMBP2_HUMAN DNA-binding protein SMUBP-2 (sprot)


RNF17_HUMAN RING finger protein 17 (sprot)


FOXP1_HUMAN Forkhead box protein P1 (sprot)


ADA2A_HUMAN Alpha-2A adrenergic receptor (sprot)


HMR1_HUMAN Major histocompatibility complex class I-related gene protein (sprot)


TOX4_HUMAN TOX high mobility group box family member 4 (sprot)


PGPI_HUMAN Pyroglutamyl-peptidase 1 (sprot)


CISH_HUMAN Cytokine-inducible SH2-containing protein (sprot)


MSS4_HUMAN Guanine nucleotide exchange factor MSS4 (sprot)


PREX1_HUMAN Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein (sprot)


PXDC2_HUMAN Plexin domain-containing protein 2 (sprot)


RRP1B_HUMAN Ribosomal RNA processing protein 1 homolog B (sprot)


CARD6_HUMAN Caspase recruitment domain-containing protein 6 (sprot)


TXD11_HUMAN Thioredoxin domain-containing protein 11 (sprot)


OSGEP_HUMAN tRNA N6-adenosine threonylcarbamoyltransferase (sprot)


autosomal recessive spinocerebellar ataxia 10


ATD3C_HUMAN ATPase family AAA domain-containing protein 3C (sprot)


NR1H2_HUMAN Oxysterols receptor LXR-beta (sprot)


MSL2_HUMAN E3 ubiquitin-protein ligase MSL2 (sprot)


GRB10_HUMAN Growth factor receptor-bound protein 10 (sprot)


HSFX1_HUMAN Heat shock transcription factor, X-linked (sprot)


COX11_HUMAN Cytochrome c oxidase assembly protein COX11, mitochondrial (sprot)


CBR3_HUMAN Carbonyl reductase [NADPH] 3 (sprot)


LY86_HUMAN Lymphocyte antigen 86 (sprot)


APAF_HUMAN Apoptotic protease-activating factor 1 (sprot)


RGS2_HUMAN Regulator of G-protein signaling 2 (sprot)


SO5A1_HUMAN Solute carrier organic anion transporter family member 5A1 (sprot)


SWP70_HUMAN Switch-associated protein 70 (sprot)


PAR16_HUMAN Protein mono-ADP-ribosyltransferase PARP16 (sprot)


FOXR1_HUMAN Forkhead box protein R1 (sprot)


VWA2_HUMAN von Willebrand factor A domain-containing protein 2 (sprot)


acute generalized exanthematous pustulosis


CENPI_HUMAN Centromere protein I (sprot)


GANP_HUMAN Germinal-center associated nuclear protein (sprot)


RINI_HUMAN Ribonuclease inhibitor (sprot)


ZN267_HUMAN Zinc finger protein 267 (sprot)


ZCRB1_HUMAN Zinc finger CCHC-type and RNA-binding motif-containing protein 1 (sprot)


DEP1A_HUMAN DEP domain-containing protein 1A (sprot)


ESX1_HUMAN Homeobox protein ESX1 (sprot)


CMTA2_HUMAN Calmodulin-binding transcription activator 2 (sprot)


S6A12_HUMAN Sodium- and chloride-dependent betaine transporter (sprot)


ALDOB_HUMAN Fructose-bisphosphate aldolase B (sprot)


UIMC1_HUMAN BRCA1-A complex subunit RAP80 (sprot)


M3K6_HUMAN Mitogen-activated protein kinase kinase kinase 6 (sprot)


MBD6_HUMAN Methyl-CpG-binding domain protein 6 (sprot)


INP4B_HUMAN Inositol polyphosphate 4-phosphatase type II (sprot)


RRAS_HUMAN Ras-related protein R-Ras (sprot)


CCS_HUMAN Copper chaperone for superoxide dismutase (sprot)


MS3L1_HUMAN Male-specific lethal 3 homolog (sprot)


FABP4_HUMAN Fatty acid-binding protein, adipocyte (sprot)


M3K8_HUMAN Mitogen-activated protein kinase kinase kinase 8 (sprot)


MAGA4_HUMAN Melanoma-associated antigen 4 (sprot)


MYLK4_HUMAN Myosin light chain kinase family member 4 (sprot)


CCRL2_HUMAN C-C chemokine receptor-like 2 (sprot)


DHRS2_HUMAN Dehydrogenase/reductase SDR family member 2, mitochondrial (sprot)


EMAL6_HUMAN Echinoderm microtubule-associated protein-like 6 (sprot)


splenic diffuse red pulp small B-cell lymphoma


PRKDC_HUMAN DNA-dependent protein kinase catalytic subunit (sprot)


PMVK_HUMAN Phosphomevalonate kinase (sprot)


CHD4_HUMAN Chromodomain-helicase-DNA-binding protein 4 (sprot)


CCD92_HUMAN Coiled-coil domain-containing protein 92 (sprot)


TRI37_HUMAN E3 ubiquitin-protein ligase TRIM37 (sprot)


celiac disease-epilepsy-cerebral calcification syndrome


MTR1A_HUMAN Melatonin receptor type 1A (sprot)


AFF4_HUMAN AF4/FMR2 family member 4 (sprot)


HIF3A_HUMAN Hypoxia-inducible factor 3-alpha (sprot)


PCP4_HUMAN Calmodulin regulator protein PCP4 (sprot)


S22AG_HUMAN Solute carrier family 22 member 16 (sprot)


GGT5_HUMAN Glutathione hydrolase 5 proenzyme (sprot)


enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor


ESR2_HUMAN Estrogen receptor beta (sprot)


SGK1_HUMAN Serine/threonine-protein kinase Sgk1 (sprot)


AP3M2_HUMAN AP-3 complex subunit mu-2 (sprot)


ATP4B_HUMAN Potassium-transporting ATPase subunit beta (sprot)


POTEH_HUMAN POTE ankyrin domain family member H (sprot)


MFSD5_HUMAN Molybdate-anion transporter (sprot)


TRML1_HUMAN Trem-like transcript 1 protein (sprot)


HAVR2_HUMAN Hepatitis A virus cellular receptor 2 (sprot)


ABCA6_HUMAN ATP-binding cassette sub-family A member 6 (sprot)


FGF11_HUMAN Fibroblast growth factor 11 (sprot)


ABCA9_HUMAN ATP-binding cassette sub-family A member 9 (sprot)


ATS14_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 14 (sprot)


T132B_HUMAN Transmembrane protein 132B (sprot)


progeroid features-hepatocellular carcinoma predisposition syndrome


CLP1L_HUMAN Lipid scramblase CLPTM1L (sprot)


paternal uniparental disomy of chromosome 13


ST14_HUMAN Suppressor of tumorigenicity 14 protein (sprot)


restless legs syndrome, susceptibility to, 6


IF4B_HUMAN Eukaryotic translation initiation factor 4B (sprot)


UBP7_HUMAN Ubiquitin carboxyl-terminal hydrolase 7 (sprot)


disseminated superficial actinic porokeratosis


ID1_HUMAN DNA-binding protein inhibitor ID-1 (sprot)


RGPD2_HUMAN RANBP2-like and GRIP domain-containing protein 2 (sprot)


NPT1_HUMAN Sodium-dependent phosphate transport protein 1 (sprot)


PPP6_HUMAN Serine/threonine-protein phosphatase 6 catalytic subunit (sprot)


primary mediastinal large B-cell lymphoma


BL1S3_HUMAN Biogenesis of lysosome-related organelles complex 1 subunit 3 (sprot)


ITIH3_HUMAN Inter-alpha-trypsin inhibitor heavy chain H3 (sprot)


BSPRY_HUMAN B box and SPRY domain-containing protein (sprot)


H17B6_HUMAN 17-beta-hydroxysteroid dehydrogenase type 6 (sprot)


RHOG_HUMAN Rho-related GTP-binding protein RhoG (sprot)


INSL4_HUMAN Early placenta insulin-like peptide (sprot)


ACHB_HUMAN Acetylcholine receptor subunit beta (sprot)


WASF1_HUMAN Actin-binding protein WASF1 (sprot)


PTCA_HUMAN Protein tyrosine phosphatase receptor type C-associated protein (sprot)


MOGT1_HUMAN 2-acylglycerol O-acyltransferase 1 (sprot)


familial isolated hypoparathyroidism due to agenesis of parathyroid gland


SO1A2_HUMAN Solute carrier organic anion transporter family member 1A2 (sprot)


HNF4A_HUMAN Hepatocyte nuclear factor 4-alpha (sprot)


ZN683_HUMAN Tissue-resident T-cell transcription regulator protein ZNF683 (sprot)


DPPA4_HUMAN Developmental pluripotency-associated protein 4 (sprot)


PILRA_HUMAN Paired immunoglobulin-like type 2 receptor alpha (sprot)


SV2C_HUMAN Synaptic vesicle glycoprotein 2C (sprot)


KPCD2_HUMAN Serine/threonine-protein kinase D2 (sprot)


TCIM_HUMAN Transcriptional and immune response regulator (sprot)


CYTIP_HUMAN Cytohesin-interacting protein (sprot)


EFTU_HUMAN Elongation factor Tu, mitochondrial (sprot)


acute myeloid leukemia with t(6;9)(p23;q34)


FUS_HUMAN RNA-binding protein FUS (sprot)


MKRN1_HUMAN E3 ubiquitin-protein ligase makorin-1 (sprot)


GPBAR_HUMAN G-protein coupled bile acid receptor 1 (sprot)


S13A3_HUMAN Na(+)/dicarboxylate cotransporter 3 (sprot)


GTSE1_HUMAN G2 and S phase-expressed protein 1 (sprot)


KDSR_HUMAN 3-ketodihydrosphingosine reductase (sprot)


AL2CL_HUMAN ALS2 C-terminal-like protein (sprot)


COX6C_HUMAN Cytochrome c oxidase subunit 6C (sprot)


ENPP6_HUMAN Glycerophosphocholine cholinephosphodiesterase ENPP6 (sprot)


UBP4_HUMAN Ubiquitin carboxyl-terminal hydrolase 4 (sprot)


lissencephaly with cerebellar hypoplasia


CD53_HUMAN Leukocyte surface antigen CD53 (sprot)


CAC1F_HUMAN Voltage-dependent L-type calcium channel subunit alpha-1F (sprot)


TBA3E_HUMAN Tubulin alpha-3E chain (sprot)


KCNJ6_HUMAN G protein-activated inward rectifier potassium channel 2 (sprot)


paternal uniparental disomy of chromosome 7


RHNO1_HUMAN RAD9, HUS1, RAD1-interacting nuclear orphan protein 1 (sprot)


PTOV1_HUMAN Prostate tumor-overexpressed gene 1 protein (sprot)


YPEL4_HUMAN Protein yippee-like 4 (sprot)


DJC16_HUMAN DnaJ homolog subfamily C member 16 (sprot)


CELF3_HUMAN CUGBP Elav-like family member 3 (sprot)


SL9C1_HUMAN Sodium/hydrogen exchanger 10 (sprot)


CDX1_HUMAN Homeobox protein CDX-1 (sprot)


SNR25_HUMAN U11/U12 small nuclear ribonucleoprotein 25 kDa protein (sprot)


MXI1_HUMAN Max-interacting protein 1 (sprot)


FBP12_HUMAN Fatty acid-binding protein 12 (sprot)


ALKB6_HUMAN Alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 (sprot)


pulmonary non-tuberculous mycobacterial infection


SRSF7_HUMAN Serine/arginine-rich splicing factor 7 (sprot)


syndromic X-linked intellectual disability 5


CUX2_HUMAN Homeobox protein cut-like 2 (sprot)


RABP1_HUMAN Cellular retinoic acid-binding protein 1 (sprot)


SC23A_HUMAN Protein transport protein Sec23A (sprot)


ZDH15_HUMAN Palmitoyltransferase ZDHHC15 (sprot)


IRG1_HUMAN Cis-aconitate decarboxylase (sprot)


rhabdoid tumor predisposition syndrome 1


AIDS-related primary central nervous system lymphoma


CHD9_HUMAN Chromodomain-helicase-DNA-binding protein 9 (sprot)


ELOV6_HUMAN Elongation of very long chain fatty acids protein 6 (sprot)


MFSD8_HUMAN Major facilitator superfamily domain-containing protein 8 (sprot)


HAUS7_HUMAN HAUS augmin-like complex subunit 7 (sprot)


TRIP6_HUMAN Thyroid receptor-interacting protein 6 (sprot)


syndromic X-linked intellectual disability Lubs type


ERI3_HUMAN ERI1 exoribonuclease 3 (sprot)


NDUV3_HUMAN NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial (sprot)


LX15B_HUMAN Polyunsaturated fatty acid lipoxygenase ALOX15B (sprot)


ZNHI3_HUMAN Zinc finger HIT domain-containing protein 3 (sprot)


OVOL2_HUMAN Transcription factor Ovo-like 2 (sprot)


TAFA5_HUMAN Chemokine-like protein TAFA-5 (sprot)


VP37D_HUMAN Vacuolar protein sorting-associated protein 37D (sprot)


MIP_HUMAN Lens fiber major intrinsic protein (sprot)


FAK1_HUMAN Focal adhesion kinase 1 (sprot)


VSIG1_HUMAN V-set and immunoglobulin domain-containing protein 1 (sprot)


RO60_HUMAN RNA-binding protein RO60 (sprot)


RHOV_HUMAN Rho-related GTP-binding protein RhoV (sprot)


HSP74_HUMAN Heat shock 70 kDa protein 4 (sprot)


BCL2_HUMAN Apoptosis regulator Bcl-2 (sprot)


ADH1A_HUMAN Alcohol dehydrogenase 1A (sprot)


epidermolysis bullosa simplex 5B, with muscular dystrophy


SETB1_HUMAN Histone-lysine N-methyltransferase SETDB1 (sprot)


ASIC2_HUMAN Acid-sensing ion channel 2 (sprot)


RBM28_HUMAN RNA-binding protein 28 (sprot)


SPAR_HUMAN Small regulatory polypeptide of amino acid response (sprot)


PI42C_HUMAN Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma (sprot)


NSL1_HUMAN Kinetochore-associated protein NSL1 homolog (sprot)


LOXL2_HUMAN Lysyl oxidase homolog 2 (sprot)


GNL3_HUMAN Guanine nucleotide-binding protein-like 3 (sprot)


NEK5_HUMAN Serine/threonine-protein kinase Nek5 (sprot)


ZMIZ2_HUMAN Zinc finger MIZ domain-containing protein 2 (sprot)


APLF_HUMAN Aprataxin and PNK-like factor (sprot)


WDR82_HUMAN WD repeat-containing protein 82 (sprot)


TAF9B_HUMAN Transcription initiation factor TFIID subunit 9B (sprot)


AKCL2_HUMAN 1,5-anhydro-D-fructose reductase (sprot)


CLYBL_HUMAN Citramalyl-CoA lyase, mitochondrial (sprot)


autosomal recessive hypophosphatemic rickets


NMDZ1_HUMAN Glutamate receptor ionotropic, NMDA 1 (sprot)


Microsporum audouinii allergenic extract


TRI42_HUMAN Tripartite motif-containing protein 42 (sprot)


UBA1_HUMAN Ubiquitin-like modifier-activating enzyme 1 (sprot)


rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome


UBP31_HUMAN Ubiquitin carboxyl-terminal hydrolase 31 (sprot)


CELR3_HUMAN Cadherin EGF LAG seven-pass G-type receptor 3 (sprot)


DOXA2_HUMAN Dual oxidase maturation factor 2 (sprot)


POMP_HUMAN Proteasome maturation protein (sprot)


ARH40_HUMAN Rho guanine nucleotide exchange factor 40 (sprot)


EFHC2_HUMAN EF-hand domain-containing family member C2 (sprot)


ADRB1_HUMAN Beta-1 adrenergic receptor (sprot)


VA0E1_HUMAN V-type proton ATPase subunit e 1 (sprot)


HUWE1_HUMAN E3 ubiquitin-protein ligase HUWE1 (sprot)


spondyloepimetaphyseal dysplasia, Missouri type


ARRD1_HUMAN Arrestin domain-containing protein 1 (sprot)


Anti-neutrophil cytoplasmic antibody-associated vasculitis


KGP2_HUMAN cGMP-dependent protein kinase 2 (sprot)


NPBW2_HUMAN Neuropeptides B/W receptor type 2 (sprot)


GRB14_HUMAN Growth factor receptor-bound protein 14 (sprot)


ADA23_HUMAN Disintegrin and metalloproteinase domain-containing protein 23 (sprot)


KT33A_HUMAN Keratin, type I cuticular Ha3-I (sprot)


PDE4A_HUMAN cAMP-specific 3',5'-cyclic phosphodiesterase 4A (sprot)


UBF1_HUMAN Nucleolar transcription factor 1 (sprot)


IGFL2_HUMAN Insulin growth factor-like family member 2 (sprot)


GGT6_HUMAN Glutathione hydrolase 6 (sprot)


TAAR8_HUMAN Trace amine-associated receptor 8 (sprot)


INSI2_HUMAN Insulin-induced gene 2 protein (sprot)


SSH1_HUMAN Protein phosphatase Slingshot homolog 1 (sprot)


breast mucosa-associated lymphoid tissue lymphoma


VAV2_HUMAN Guanine nucleotide exchange factor VAV2 (sprot)


HEG1_HUMAN Protein HEG homolog 1 (sprot)


ARHG5_HUMAN Rho guanine nucleotide exchange factor 5 (sprot)


SF3B2_HUMAN Splicing factor 3B subunit 2 (sprot)


GPR20_HUMAN G-protein coupled receptor 20 (sprot)


DPH2_HUMAN 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 (sprot)


ACKR4_HUMAN Atypical chemokine receptor 4 (sprot)


MICB_HUMAN MHC class I polypeptide-related sequence B (sprot)


KCD16_HUMAN BTB/POZ domain-containing protein KCTD16 (sprot)


TTLL6_HUMAN Tubulin polyglutamylase TTLL6 (sprot)


TCRG1_HUMAN Transcription elongation regulator 1 (sprot)


XAF1_HUMAN XIAP-associated factor 1 (sprot)


Rhodotorula mucilaginosa allergenic extract


KDM3B_HUMAN Lysine-specific demethylase 3B (sprot)


LRAD2_HUMAN Low-density lipoprotein receptor class A domain-containing protein 2 (sprot)


HSPB2_HUMAN Heat shock protein beta-2 (sprot)


ITM2B_HUMAN Integral membrane protein 2B (sprot)


STA10_HUMAN START domain-containing protein 10 (sprot)


salivary gland epithelial myoepithelial carcinoma


PLD6_HUMAN Mitochondrial cardiolipin hydrolase (sprot)


TPOR_HUMAN Thrombopoietin receptor (sprot)


GUC1A_HUMAN Guanylyl cyclase-activating protein 1 (sprot)


GLT18_HUMAN Polypeptide N-acetylgalactosaminyltransferase 18 (sprot)


PPOX_HUMAN Protoporphyrinogen oxidase (sprot)


ABLM3_HUMAN Actin-binding LIM protein 3 (sprot)


CXB3_HUMAN Gap junction beta-3 protein (sprot)


LCOR_HUMAN Ligand-dependent corepressor (sprot)


CILP2_HUMAN Cartilage intermediate layer protein 2 (sprot)


TF2LX_HUMAN Homeobox protein TGIF2LX (sprot)


CEP72_HUMAN Centrosomal protein of 72 kDa (sprot)


MMP20_HUMAN Matrix metalloproteinase-20 (sprot)


PURA_HUMAN Transcriptional activator protein Pur-alpha (sprot)


SOX11_HUMAN Transcription factor SOX-11 (sprot)


CLNK_HUMAN Cytokine-dependent hematopoietic cell linker (sprot)


PCDB5_HUMAN Protocadherin beta-5 (sprot)


minor salivary gland adenoid cystic carcinoma


UD110_HUMAN UDP-glucuronosyltransferase 1A10 (sprot)


methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency


GDF6_HUMAN Growth/differentiation factor 6 (sprot)


NUDC1_HUMAN NudC domain-containing protein 1 (sprot)


PITM3_HUMAN Membrane-associated phosphatidylinositol transfer protein 3 (sprot)


Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome


CD8B_HUMAN T-cell surface glycoprotein CD8 beta chain (sprot)


ACVL1_HUMAN Serine/threonine-protein kinase receptor R3 (sprot)


CDCA2_HUMAN Cell division cycle-associated protein 2 (sprot)


long chain 3-hydroxyacyl-CoA dehydrogenase deficiency


SFTPD_HUMAN Pulmonary surfactant-associated protein D (sprot)


ABCD3_HUMAN ATP-binding cassette sub-family D member 3 (sprot)


KCNN1_HUMAN Small conductance calcium-activated potassium channel protein 1 (sprot)


GPR19_HUMAN Probable G-protein coupled receptor 19 (sprot)


NAL12_HUMAN NACHT, LRR and PYD domains-containing protein 12 (sprot)


RRN3_HUMAN RNA polymerase I-specific transcription initiation factor RRN3 (sprot)


MA7D3_HUMAN MAP7 domain-containing protein 3 (sprot)


PPR1A_HUMAN Protein phosphatase 1 regulatory subunit 1A (sprot)


LPP60_HUMAN 60 kDa lysophospholipase (sprot)


generalized junctional epidermolysis bullosa non-Herlitz type


DYRK4_HUMAN Dual specificity tyrosine-phosphorylation-regulated kinase 4 (sprot)


GIN1_HUMAN Gypsy retrotransposon integrase-like protein 1 (sprot)


COG7_HUMAN Conserved oligomeric Golgi complex subunit 7 (sprot)


ERR2_HUMAN Steroid hormone receptor ERR2 (sprot)


RIOX2_HUMAN Ribosomal oxygenase 2 (sprot)


STPAP_HUMAN Speckle targeted PIP5K1A-regulated poly(A) polymerase (sprot)


HABP4_HUMAN Intracellular hyaluronan-binding protein 4 (sprot)


CEP57_HUMAN Centrosomal protein of 57 kDa (sprot)


KCNE4_HUMAN Potassium voltage-gated channel subfamily E member 4 (sprot)


S35D1_HUMAN UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter (sprot)


ABCC8_HUMAN ATP-binding cassette sub-family C member 8 (sprot)


ATG10_HUMAN Ubiquitin-like-conjugating enzyme ATG10 (sprot)


TRPA1_HUMAN Transient receptor potential cation channel subfamily A member 1 (sprot)


RASL1_HUMAN RasGAP-activating-like protein 1 (sprot)


ARHGB_HUMAN Rho guanine nucleotide exchange factor 11 (sprot)


CCD47_HUMAN PAT complex subunit CCDC47 (sprot)


GGA3_HUMAN ADP-ribosylation factor-binding protein GGA3 (sprot)


KAT3_HUMAN Kynurenine--oxoglutarate transaminase 3 (sprot)


congenital stationary night blindness 1B


cholesterol biosynthetic process disease


FTO_HUMAN Alpha-ketoglutarate-dependent dioxygenase FTO (sprot)


GPX4_HUMAN Phospholipid hydroperoxide glutathione peroxidase (sprot)


KCNA5_HUMAN Potassium voltage-gated channel subfamily A member 5 (sprot)


MD2L1_HUMAN Mitotic spindle assembly checkpoint protein MAD2A (sprot)


COG1_HUMAN Conserved oligomeric Golgi complex subunit 1 (sprot)


ITPA_HUMAN Inosine triphosphate pyrophosphatase (sprot)


CAH5A_HUMAN Carbonic anhydrase 5A, mitochondrial (sprot)


SHC1_HUMAN SHC-transforming protein 1 (sprot)


UB2Q1_HUMAN Ubiquitin-conjugating enzyme E2 Q1 (sprot)


ILRL2_HUMAN Interleukin-1 receptor-like 2 (sprot)


lymphocyte immune globulin, anti-thymocyte globulin, equine


STAT4_HUMAN Signal transducer and activator of transcription 4 (sprot)


DHB3_HUMAN 17-beta-hydroxysteroid dehydrogenase type 3 (sprot)


FYV1_HUMAN 1-phosphatidylinositol 3-phosphate 5-kinase (sprot)


TCEA1_HUMAN Transcription elongation factor A protein 1 (sprot)


cervical squamous intraepithelial neoplasia


USPL1_HUMAN SUMO-specific isopeptidase USPL1 (sprot)


DUS28_HUMAN Dual specificity phosphatase 28 (sprot)


CMIP_HUMAN C-Maf-inducing protein (sprot)


M3K2_HUMAN Mitogen-activated protein kinase kinase kinase 2 (sprot)


TM38A_HUMAN Trimeric intracellular cation channel type A (sprot)


DOCK5_HUMAN Dedicator of cytokinesis protein 5 (sprot)


AA1R_HUMAN Adenosine receptor A1 (sprot)


HEYL_HUMAN Hairy/enhancer-of-split related with YRPW motif-like protein (sprot)


M3K9_HUMAN Mitogen-activated protein kinase kinase kinase 9 (sprot)


DPOLL_HUMAN DNA polymerase lambda (sprot)


MPRIP_HUMAN Myosin phosphatase Rho-interacting protein (sprot)


ZN668_HUMAN Zinc finger protein 668 (sprot)


OR4M1_HUMAN Olfactory receptor 4M1 (sprot)


THTM_HUMAN 3-mercaptopyruvate sulfurtransferase (sprot)


IFT80_HUMAN Intraflagellar transport protein 80 homolog (sprot)


BCR_HUMAN Breakpoint cluster region protein (sprot)


GPR75_HUMAN Probable G-protein coupled receptor 75 (sprot)


PTRD1_HUMAN Putative peptidyl-tRNA hydrolase PTRHD1 (sprot)


CD5R2_HUMAN Cyclin-dependent kinase 5 activator 2 (sprot)


Charcot-Marie-Tooth disease X-linked dominant 1


HEMH_HUMAN Ferrochelatase, mitochondrial (sprot)


SGMR1_HUMAN Sigma non-opioid intracellular receptor 1 (sprot)


RANB9_HUMAN Ran-binding protein 9 (sprot)


NACHO_HUMAN Novel acetylcholine receptor chaperone (sprot)


NRK1_HUMAN Nicotinamide riboside kinase 1 (sprot)


SF3B4_HUMAN Splicing factor 3B subunit 4 (sprot)


AICDA_HUMAN Single-stranded DNA cytosine deaminase (sprot)


PHLD_HUMAN Phosphatidylinositol-glycan-specific phospholipase D (sprot)


CHIP_HUMAN E3 ubiquitin-protein ligase CHIP (sprot)


EMC6_HUMAN ER membrane protein complex subunit 6 (sprot)


free sialic acid storage disease, infantile form


PDK3_HUMAN [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial (sprot)


CCDC8_HUMAN Coiled-coil domain-containing protein 8 (sprot)


DPH1_HUMAN 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 (sprot)


ACHB4_HUMAN Neuronal acetylcholine receptor subunit beta-4 (sprot)


DNA2_HUMAN DNA replication ATP-dependent helicase/nuclease DNA2 (sprot)


BRD2_HUMAN Bromodomain-containing protein 2 (sprot)


GHRHR_HUMAN Growth hormone-releasing hormone receptor (sprot)


CLIC5_HUMAN Chloride intracellular channel protein 5 (sprot)


5HT3C_HUMAN 5-hydroxytryptamine receptor 3C (sprot)


paternal uniparental disomy of chromosome 14


SF3B5_HUMAN Splicing factor 3B subunit 5 (sprot)


facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome


RS27_HUMAN 40S ribosomal protein S27 (sprot)


BAMBI_HUMAN BMP and activin membrane-bound inhibitor homolog (sprot)


GBRR2_HUMAN Gamma-aminobutyric acid receptor subunit rho-2 (sprot)


MED25_HUMAN Mediator of RNA polymerase II transcription subunit 25 (sprot)


small cell variant anaplastic large cell lymphoma


PADI2_HUMAN Protein-arginine deiminase type-2 (sprot)


KLH41_HUMAN Kelch-like protein 41 (sprot)


KCNK6_HUMAN Potassium channel subfamily K member 6 (sprot)


BOP1_HUMAN Ribosome biogenesis protein BOP1 (sprot)


ODAD4_HUMAN Outer dynein arm-docking complex subunit 4 (sprot)


ATRIP_HUMAN ATR-interacting protein (sprot)


junctional epidermolysis bullosa with pyloric atresia


ASGL1_HUMAN Isoaspartyl peptidase/L-asparaginase (sprot)


AKP8L_HUMAN A-kinase anchor protein 8-like (sprot)


PCDB1_HUMAN Protocadherin beta-1 (sprot)


LIMC1_HUMAN LIM and calponin homology domains-containing protein 1 (sprot)


GHRL_HUMAN Appetite-regulating hormone (sprot)


PTCD2_HUMAN Pentatricopeptide repeat-containing protein 2, mitochondrial (sprot)


TAF5L_HUMAN TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L (sprot)


CLCN2_HUMAN Chloride channel protein 2 (sprot)


PLRG1_HUMAN Pleiotropic regulator 1 (sprot)


MPI_HUMAN Mannose-6-phosphate isomerase (sprot)


SPP2B_HUMAN Signal peptide peptidase-like 2B (sprot)


LZTS2_HUMAN Leucine zipper putative tumor suppressor 2 (sprot)


HAUS5_HUMAN HAUS augmin-like complex subunit 5 (sprot)


2AAB_HUMAN Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform (sprot)


RGS20_HUMAN Regulator of G-protein signaling 20 (sprot)


ADA1D_HUMAN Alpha-1D adrenergic receptor (sprot)


febrile ulceronecrotic Mucha-Habermann disease


C1QT2_HUMAN Complement C1q tumor necrosis factor-related protein 2 (sprot)


Trichomonas vaginitis urogenital infection


CARF_HUMAN CDKN2A-interacting protein (sprot)


EST1_HUMAN Liver carboxylesterase 1 (sprot)


S38AB_HUMAN Putative sodium-coupled neutral amino acid transporter 11 (sprot)


Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome


GIMA4_HUMAN GTPase IMAP family member 4 (sprot)


PO5F1_HUMAN POU domain, class 5, transcription factor 1 (sprot)


CLAT_HUMAN Choline O-acetyltransferase (sprot)


SMCA5_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 (sprot)


STAG2_HUMAN Cohesin subunit SA-2 (sprot)


ULK1_HUMAN Serine/threonine-protein kinase ULK1 (sprot)


CDKA2_HUMAN Cyclin-dependent kinase 2-associated protein 2 (sprot)


PDE1C_HUMAN Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C (sprot)


rubella virus vaccine live (Wistar RA 27-3 strain)


S1PR4_HUMAN Sphingosine 1-phosphate receptor 4 (sprot)


MED22_HUMAN Mediator of RNA polymerase II transcription subunit 22 (sprot)


LFTY1_HUMAN Left-right determination factor 1 (sprot)


PLAP_HUMAN Phospholipase A-2-activating protein (sprot)


CCG4_HUMAN Voltage-dependent calcium channel gamma-4 subunit (sprot)


PHKG1_HUMAN Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform (sprot)


ADA15_HUMAN Disintegrin and metalloproteinase domain-containing protein 15 (sprot)


LDB2_HUMAN LIM domain-binding protein 2 (sprot)


M3K20_HUMAN Mitogen-activated protein kinase kinase kinase 20 (sprot)


HS71A_HUMAN Heat shock 70 kDa protein 1A (sprot)


GNAQ_HUMAN Guanine nucleotide-binding protein G(q) subunit alpha (sprot)


FSTL5_HUMAN Follistatin-related protein 5 (sprot)


TNNI3_HUMAN Troponin I, cardiac muscle (sprot)


RGF1C_HUMAN Ras-GEF domain-containing family member 1C (sprot)


TRXR1_HUMAN Thioredoxin reductase 1, cytoplasmic (sprot)


S4A11_HUMAN Solute carrier family 4 member 11 (sprot)


ADA22_HUMAN Disintegrin and metalloproteinase domain-containing protein 22 (sprot)


ZBTB2_HUMAN Zinc finger and BTB domain-containing protein 2 (sprot)


ZN274_HUMAN Neurotrophin receptor-interacting factor homolog (sprot)


ZFP42_HUMAN Zinc finger protein 42 homolog (sprot)


BTBD2_HUMAN BTB/POZ domain-containing protein 2 (sprot)


IL23R_HUMAN Interleukin-23 receptor (sprot)


SMC2_HUMAN Structural maintenance of chromosomes protein 2 (sprot)


NFXL1_HUMAN NF-X1-type zinc finger protein NFXL1 (sprot)


G3BP1_HUMAN Ras GTPase-activating protein-binding protein 1 (sprot)


PELP1_HUMAN Proline-, glutamic acid- and leucine-rich protein 1 (sprot)


GRP_HUMAN Gastrin-releasing peptide (sprot)


APBA1_HUMAN Amyloid-beta A4 precursor protein-binding family A member 1 (sprot)


MARH7_HUMAN E3 ubiquitin-protein ligase MARCHF7 (sprot)


RB40L_HUMAN Ras-related protein Rab-40A-like (sprot)


C19L1_HUMAN CWF19-like protein 1 (sprot)


KLH30_HUMAN Kelch-like protein 30 (sprot)


GRM5_HUMAN Metabotropic glutamate receptor 5 (sprot)


K2C6A_HUMAN Keratin, type II cytoskeletal 6A (sprot)


CCHL_HUMAN Holocytochrome c-type synthase (sprot)


CADM3_HUMAN Cell adhesion molecule 3 (sprot)


ARL14_HUMAN ADP-ribosylation factor-like protein 14 (sprot)


IGSF2_HUMAN Immunoglobulin superfamily member 2 (sprot)


FBXW8_HUMAN F-box/WD repeat-containing protein 8 (sprot)


blepharophimosis - intellectual disability syndrome, SBBYS type


chronic inflammatory demyelinating polyneuritis


ERBB2_HUMAN Receptor tyrosine-protein kinase erbB-2 (sprot)


autosomal dominant nonsyndromic hearing loss 64


Ehlers-Danlos syndrome, spondylodysplastic type


GCR_HUMAN Glucocorticoid receptor (sprot)


GTR2_HUMAN Solute carrier family 2, facilitated glucose transporter member 2 (sprot)


LEU1_HUMAN Leukemia-associated protein 1 (sprot)


KLH23_HUMAN Kelch-like protein 23 (sprot)


VMO1_HUMAN Vitelline membrane outer layer protein 1 homolog (sprot)


CSF3R_HUMAN Granulocyte colony-stimulating factor receptor (sprot)


BACH_HUMAN Cytosolic acyl coenzyme A thioester hydrolase (sprot)


PDCD5_HUMAN Programmed cell death protein 5 (sprot)


MMP16_HUMAN Matrix metalloproteinase-16 (sprot)


RIOK2_HUMAN Serine/threonine-protein kinase RIO2 (sprot)


THOC1_HUMAN THO complex subunit 1 (sprot)


IF5A1_HUMAN Eukaryotic translation initiation factor 5A-1 (sprot)


SIGL8_HUMAN Sialic acid-binding Ig-like lectin 8 (sprot)


SIAT6_HUMAN CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase (sprot)


8ODP_HUMAN Oxidized purine nucleoside triphosphate hydrolase (sprot)


GUF1_HUMAN Translation factor GUF1, mitochondrial (sprot)


NTRK3_HUMAN NT-3 growth factor receptor (sprot)


RS4Y1_HUMAN 40S ribosomal protein S4, Y isoform 1 (sprot)


CLASR_HUMAN CLK4-associating serine/arginine rich protein (sprot)


NB5R4_HUMAN Cytochrome b5 reductase 4 (sprot)


neuronal ceroid lipofuscinosis 8 northern epilepsy variant


PAR6A_HUMAN Partitioning defective 6 homolog alpha (sprot)


HXD10_HUMAN Homeobox protein Hox-D10 (sprot)


S36A4_HUMAN Proton-coupled amino acid transporter 4 (sprot)


M3K21_HUMAN Mitogen-activated protein kinase kinase kinase 21 (sprot)


MB3L1_HUMAN Methyl-CpG-binding domain protein 3-like 1 (sprot)


TNAP2_HUMAN Tumor necrosis factor alpha-induced protein 2 (sprot)


VTI1B_HUMAN Vesicle transport through interaction with t-SNAREs homolog 1B (sprot)


CABL1_HUMAN CDK5 and ABL1 enzyme substrate 1 (sprot)


SRC_HUMAN Proto-oncogene tyrosine-protein kinase Src (sprot)


isolated focal cortical dysplasia type I


CLK2_HUMAN Dual specificity protein kinase CLK2 (sprot)


familial hemophagocytic lymphohistiocytosis 3


GRPE1_HUMAN GrpE protein homolog 1, mitochondrial (sprot)


ML12B_HUMAN Myosin regulatory light chain 12B (sprot)


PAXB1_HUMAN PAX3- and PAX7-binding protein 1 (sprot)


MPDZ_HUMAN Multiple PDZ domain protein (sprot)


RBBP9_HUMAN Serine hydrolase RBBP9 (sprot)


BMP8A_HUMAN Bone morphogenetic protein 8A (sprot)


NPT2A_HUMAN Sodium-dependent phosphate transport protein 2A (sprot)


BROMI_HUMAN Protein broad-minded (sprot)


RGS7_HUMAN Regulator of G-protein signaling 7 (sprot)


autoimmune lymphoproliferative syndrome type 4


BARX2_HUMAN Homeobox protein BarH-like 2 (sprot)


S23A2_HUMAN Solute carrier family 23 member 2 (sprot)


undifferentiated high grade pleomorphic sarcoma of bone


SACA4_HUMAN Sperm acrosome membrane-associated protein 4 (sprot)


CCL28_HUMAN C-C motif chemokine 28 (sprot)


CXB5_HUMAN Gap junction beta-5 protein (sprot)


multiple system atrophy, parkinsonian type


DYR1B_HUMAN Dual specificity tyrosine-phosphorylation-regulated kinase 1B (sprot)


FSBP_HUMAN Fibrinogen silencer-binding protein (sprot)


GLTL5_HUMAN Inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 (sprot)


MARC1_HUMAN Mitochondrial amidoxime-reducing component 1 (sprot)


PSG1_HUMAN Pregnancy-specific beta-1-glycoprotein 1 (sprot)


RACK1_HUMAN Receptor of activated protein C kinase 1 (sprot)


ZN470_HUMAN Zinc finger protein 470 (sprot)


TMEDA_HUMAN Transmembrane emp24 domain-containing protein 10 (sprot)


CAH12_HUMAN Carbonic anhydrase 12 (sprot)


KAT5_HUMAN Histone acetyltransferase KAT5 (sprot)


GP158_HUMAN Probable G-protein coupled receptor 158 (sprot)


ADRB2_HUMAN Beta-2 adrenergic receptor (sprot)


ZBED4_HUMAN Zinc finger BED domain-containing protein 4 (sprot)


GDF7_HUMAN Growth/differentiation factor 7 (sprot)


VN1R1_HUMAN Vomeronasal type-1 receptor 1 (sprot)


EFCB7_HUMAN EF-hand calcium-binding domain-containing protein 7 (sprot)


NTR2_HUMAN Neurotensin receptor type 2 (sprot)


SAMN1_HUMAN SAM domain-containing protein SAMSN-1 (sprot)


UCRI_HUMAN Cytochrome b-c1 complex subunit Rieske, mitochondrial (sprot)


non-syndromic X-linked intellectual disability


ARL15_HUMAN ADP-ribosylation factor-like protein 15 (sprot)


PRR19_HUMAN Proline-rich protein 19 (sprot)


TSKS_HUMAN Testis-specific serine kinase substrate (sprot)


PP4R1_HUMAN Serine/threonine-protein phosphatase 4 regulatory subunit 1 (sprot)


T126A_HUMAN Transmembrane protein 126A (sprot)


RBM23_HUMAN Probable RNA-binding protein 23 (sprot)


SBNO2_HUMAN Protein strawberry notch homolog 2 (sprot)


YTHD3_HUMAN YTH domain-containing family protein 3 (sprot)


GBP6_HUMAN Guanylate-binding protein 6 (sprot)


ZBED2_HUMAN Zinc finger BED domain-containing protein 2 (sprot)


ANR23_HUMAN Ankyrin repeat domain-containing protein 23 (sprot)


ZN165_HUMAN Zinc finger protein 165 (sprot)


NOS2_HUMAN Nitric oxide synthase, inducible (sprot)


PTPRO_HUMAN Receptor-type tyrosine-protein phosphatase O (sprot)


TV23B_HUMAN Golgi apparatus membrane protein TVP23 homolog B (sprot)


RPR1A_HUMAN Regulation of nuclear pre-mRNA domain-containing protein 1A (sprot)


CCD40_HUMAN Coiled-coil domain-containing protein 40 (sprot)


isolated thyrotropin-releasing hormone deficiency


CCND1_HUMAN G1/S-specific cyclin-D1 (sprot)


S35B1_HUMAN Solute carrier family 35 member B1 (sprot)


ADRO_HUMAN NADPH:adrenodoxin oxidoreductase, mitochondrial (sprot)


2ABB_HUMAN Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform (sprot)


CRCM1_HUMAN Calcium release-activated calcium channel protein 1 (sprot)


SPTC3_HUMAN Serine palmitoyltransferase 3 (sprot)


CCR4_HUMAN C-C chemokine receptor type 4 (sprot)


HAOX1_HUMAN 2-Hydroxyacid oxidase 1 (sprot)


LIX1_HUMAN Protein limb expression 1 homolog (sprot)


IMDH2_HUMAN Inosine-5'-monophosphate dehydrogenase 2 (sprot)


liver inflammatory myofibroblastic tumor


CENPJ_HUMAN Centromere protein J (sprot)


HIC1_HUMAN Hypermethylated in cancer 1 protein (sprot)


ADH7_HUMAN All-trans-retinol dehydrogenase [NAD(+)] ADH7 (sprot)


CA2D4_HUMAN Voltage-dependent calcium channel subunit alpha-2/delta-4 (sprot)


ITM2A_HUMAN Integral membrane protein 2A (sprot)


Abnormality of the curvature of the vertebral column


malignant tumor of extrahepatic bile duct


B3GT4_HUMAN Beta-1,3-galactosyltransferase 4 (sprot)


trichomegaly-retina pigmentary degeneration-dwarfism syndrome


RLF_HUMAN Zinc finger protein Rlf (sprot)


succinic semialdehyde dehydrogenase deficiency


HEXA_HUMAN Beta-hexosaminidase subunit alpha (sprot)


Z512B_HUMAN Zinc finger protein 512B (sprot)


GUC2B_HUMAN Guanylate cyclase activator 2B (sprot)


PLAT2_HUMAN Phospholipase A and acyltransferase 2 (sprot)


PFKAP_HUMAN ATP-dependent 6-phosphofructokinase, platelet type (sprot)


NR2CA_HUMAN Nuclear receptor 2C2-associated protein (sprot)


FCRL3_HUMAN Fc receptor-like protein 3 (sprot)


PAX2_HUMAN Paired box protein Pax-2 (sprot)


MAST4_HUMAN Microtubule-associated serine/threonine-protein kinase 4 (sprot)


PHX2A_HUMAN Paired mesoderm homeobox protein 2A (sprot)


MAL_HUMAN Myelin and lymphocyte protein (sprot)


S15A4_HUMAN Solute carrier family 15 member 4 (sprot)


RMI1_HUMAN RecQ-mediated genome instability protein 1 (sprot)


HXA13_HUMAN Homeobox protein Hox-A13 (sprot)


PPM1L_HUMAN Protein phosphatase 1L (sprot)


DHTK1_HUMAN 2-oxoadipate dehydrogenase complex component E1 (sprot)


DOPO_HUMAN Dopamine beta-hydroxylase (sprot)


DG2L6_HUMAN Diacylglycerol O-acyltransferase 2-like protein 6 (sprot)


SPKAP_HUMAN A-kinase anchor protein SPHKAP (sprot)


DDX41_HUMAN Probable ATP-dependent RNA helicase DDX41 (sprot)


ARH38_HUMAN Rho guanine nucleotide exchange factor 38 (sprot)


hyper-IgE recurrent infection syndrome 1


RMD3_HUMAN Regulator of microtubule dynamics protein 3 (sprot)


SFRP1_HUMAN Secreted frizzled-related protein 1 (sprot)


severe achondroplasia-developmental delay-acanthosis nigricans syndrome


epilepsy, childhood absence, susceptibility to, 1


CCD12_HUMAN Coiled-coil domain-containing protein 12 (sprot)


GRM1_HUMAN Metabotropic glutamate receptor 1 (sprot)


ORC6_HUMAN Origin recognition complex subunit 6 (sprot)


ACM5_HUMAN Muscarinic acetylcholine receptor M5 (sprot)


CCR7_HUMAN C-C chemokine receptor type 7 (sprot)


KMO_HUMAN Kynurenine 3-monooxygenase (sprot)


S1PBP_HUMAN S100P-binding protein (sprot)


chronic lymphoproliferative disorder of NK-cells


hypertrichotic osteochondrodysplasia Cantu type


IGJ_HUMAN Immunoglobulin J chain (sprot)


CBPC1_HUMAN Cytosolic carboxypeptidase 1 (sprot)


PITM2_HUMAN Membrane-associated phosphatidylinositol transfer protein 2 (sprot)


VP13B_HUMAN Intermembrane lipid transfer protein VPS13B (sprot)


combined immunodeficiency due to DOCK8 deficiency


RUN3B_HUMAN RUN domain-containing protein 3B (sprot)


FPR2_HUMAN N-formyl peptide receptor 2 (sprot)


RTF1_HUMAN RNA polymerase-associated protein RTF1 homolog (sprot)


SRP54_HUMAN Signal recognition particle 54 kDa protein (sprot)


Z385A_HUMAN Zinc finger protein 385A (sprot)


KLF2_HUMAN Krueppel-like factor 2 (sprot)


LGR5_HUMAN Leucine-rich repeat-containing G-protein coupled receptor 5 (sprot)


GIMA6_HUMAN GTPase IMAP family member 6 (sprot)


GULP1_HUMAN PTB domain-containing engulfment adapter protein 1 (sprot)


COG4_HUMAN Conserved oligomeric Golgi complex subunit 4 (sprot)


IPSP_HUMAN Plasma serine protease inhibitor (sprot)


NMUR1_HUMAN Neuromedin-U receptor 1 (sprot)


GMFG_HUMAN Glia maturation factor gamma (sprot)


NEDD4_HUMAN E3 ubiquitin-protein ligase NEDD4 (sprot)


HINFP_HUMAN Histone H4 transcription factor (sprot)


OBP2A_HUMAN Odorant-binding protein 2a (sprot)


INAR1_HUMAN Interferon alpha/beta receptor 1 (sprot)


GNMT_HUMAN Glycine N-methyltransferase (sprot)


MPDU1-congenital disorder of glycosylation


REST_HUMAN RE1-silencing transcription factor (sprot)


TXK_HUMAN Tyrosine-protein kinase TXK (sprot)


PR15A_HUMAN Protein phosphatase 1 regulatory subunit 15A (sprot)


HEM1_HUMAN 5-aminolevulinate synthase, non-specific, mitochondrial (sprot)


CTTB2_HUMAN Cortactin-binding protein 2 (sprot)


TRAD1_HUMAN TRAF-type zinc finger domain-containing protein 1 (sprot)


SCN8A_HUMAN Sodium channel protein type 8 subunit alpha (sprot)


IZUM1_HUMAN Izumo sperm-egg fusion protein 1 (sprot)


MORC3_HUMAN MORC family CW-type zinc finger protein 3 (sprot)


GNB1L_HUMAN Guanine nucleotide-binding protein subunit beta-like protein 1 (sprot)


MCEM1_HUMAN Mast cell-expressed membrane protein 1 (sprot)


MAGAB_HUMAN Melanoma-associated antigen 11 (sprot)


GRP75_HUMAN Stress-70 protein, mitochondrial (sprot)


NRG3_HUMAN Pro-neuregulin-3, membrane-bound isoform (sprot)


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type


HTSF1_HUMAN HIV Tat-specific factor 1 (sprot)


ATM_HUMAN Serine-protein kinase ATM (sprot)


GSTK1_HUMAN Glutathione S-transferase kappa 1 (sprot)


PHAG1_HUMAN Phosphoprotein associated with glycosphingolipid-enriched microdomains 1 (sprot)


ARL5B_HUMAN ADP-ribosylation factor-like protein 5B (sprot)


LIPT2_HUMAN Putative lipoyltransferase 2, mitochondrial (sprot)


GGA2_HUMAN ADP-ribosylation factor-binding protein GGA2 (sprot)


EPS8_HUMAN Epidermal growth factor receptor kinase substrate 8 (sprot)


DDX51_HUMAN ATP-dependent RNA helicase DDX51 (sprot)


LPAR3_HUMAN Lysophosphatidic acid receptor 3 (sprot)


RPA12_HUMAN DNA-directed RNA polymerase I subunit RPA12 (sprot)


tall stature-intellectual disability-facial dysmorphism syndrome


DDX28_HUMAN Probable ATP-dependent RNA helicase DDX28 (sprot)


PPIL2_HUMAN RING-type E3 ubiquitin-protein ligase PPIL2 (sprot)


familial atypical multiple mole melanoma syndrome


PIGV_HUMAN GPI mannosyltransferase 2 (sprot)


CAZA1_HUMAN F-actin-capping protein subunit alpha-1 (sprot)


DOPD_HUMAN D-dopachrome decarboxylase (sprot)


NCKX2_HUMAN Sodium/potassium/calcium exchanger 2 (sprot)


GTR10_HUMAN Solute carrier family 2, facilitated glucose transporter member 10 (sprot)


T176A_HUMAN Transmembrane protein 176A (sprot)


APBA3_HUMAN Amyloid-beta A4 precursor protein-binding family A member 3 (sprot)


NAA30_HUMAN N-alpha-acetyltransferase 30 (sprot)


GIT1_HUMAN ARF GTPase-activating protein GIT1 (sprot)


ZDH21_HUMAN Palmitoyltransferase ZDHHC21 (sprot)


EDEM1_HUMAN ER degradation-enhancing alpha-mannosidase-like protein 1 (sprot)


DAZ1_HUMAN Deleted in azoospermia protein 1 (sprot)


ARHGH_HUMAN Rho guanine nucleotide exchange factor 17 (sprot)


MPH6_HUMAN M-phase phosphoprotein 6 (sprot)


ZN875_HUMAN Zinc finger protein 875 (sprot)


multiple mitochondrial dysfunctions syndrome 2


BMR1B_HUMAN Bone morphogenetic protein receptor type-1B (sprot)


AFF1_HUMAN AF4/FMR2 family member 1 (sprot)


VLDLR_HUMAN Very low-density lipoprotein receptor (sprot)


GALT3_HUMAN Polypeptide N-acetylgalactosaminyltransferase 3 (sprot)


PRP4B_HUMAN Serine/threonine-protein kinase PRP4 homolog (sprot)


ADIRF_HUMAN Adipogenesis regulatory factor (sprot)


OLFL1_HUMAN Olfactomedin-like protein 1 (sprot)


nodular lymphocyte predominant Hodgkin lymphoma


CHRC1_HUMAN Chromatin accessibility complex protein 1 (sprot)


TPM4_HUMAN Tropomyosin alpha-4 chain (sprot)


COBA2_HUMAN Collagen alpha-2(XI) chain (sprot)


RT33_HUMAN 28S ribosomal protein S33, mitochondrial (sprot)


AGRP_HUMAN Agouti-related protein (sprot)


FKBP7_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP7 (sprot)


TIPIN_HUMAN TIMELESS-interacting protein (sprot)


RDHE2_HUMAN Epidermal retinol dehydrogenase 2 (sprot)


autosomal recessive limb-girdle muscular dystrophy type 2B


PKHG1_HUMAN Pleckstrin homology domain-containing family G member 1 (sprot)


TCF15_HUMAN Transcription factor 15 (sprot)


BACH1_HUMAN Transcription regulator protein BACH1 (sprot)


CYTL1_HUMAN Cytokine-like protein 1 (sprot)


CNTP1_HUMAN Contactin-associated protein 1 (sprot)


GBRL2_HUMAN Gamma-aminobutyric acid receptor-associated protein-like 2 (sprot)


TBP_HUMAN TATA-box-binding protein (sprot)


CP135_HUMAN Centrosomal protein of 135 kDa (sprot)


ACOX1_HUMAN Peroxisomal acyl-coenzyme A oxidase 1 (sprot)


ICAM3_HUMAN Intercellular adhesion molecule 3 (sprot)


mixed epithelial stromal tumor of the kidney


RCAS1_HUMAN Receptor-binding cancer antigen expressed on SiSo cells (sprot)


NRBF2_HUMAN Nuclear receptor-binding factor 2 (sprot)


ATP23_HUMAN Mitochondrial inner membrane protease ATP23 homolog (sprot)


MPCP_HUMAN Phosphate carrier protein, mitochondrial (sprot)


DPOG2_HUMAN DNA polymerase subunit gamma-2, mitochondrial (sprot)


VISTA_HUMAN V-type immunoglobulin domain-containing suppressor of T-cell activation (sprot)


HBAP1_HUMAN HSPB1-associated protein 1 (sprot)


C5AR1_HUMAN C5a anaphylatoxin chemotactic receptor 1 (sprot)


GPTC1_HUMAN G patch domain-containing protein 1 (sprot)


MICU2_HUMAN Calcium uptake protein 2, mitochondrial (sprot)


maternal uniparental disomy of chromosome 22


AGAP5_HUMAN Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5 (sprot)


PLCB3_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 (sprot)


RPAB3_HUMAN DNA-directed RNA polymerases I, II, and III subunit RPABC3 (sprot)


ZN654_HUMAN Zinc finger protein 654 (sprot)


RON_HUMAN Macrophage-stimulating protein receptor (sprot)


autosomal dominant nonsyndromic hearing loss 9


MGAT3_HUMAN Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase (sprot)


TET3_HUMAN Methylcytosine dioxygenase TET3 (sprot)


RT07_HUMAN 28S ribosomal protein S7, mitochondrial (sprot)


ADRM1_HUMAN Proteasomal ubiquitin receptor ADRM1 (sprot)


CR3L4_HUMAN Cyclic AMP-responsive element-binding protein 3-like protein 4 (sprot)


NUD16_HUMAN U8 snoRNA-decapping enzyme (sprot)


TM115_HUMAN Transmembrane protein 115 (sprot)


NB5R3_HUMAN NADH-cytochrome b5 reductase 3 (sprot)


NUFP1_HUMAN FMR1-interacting protein NUFIP1 (sprot)


RFA2_HUMAN Replication protein A 32 kDa subunit (sprot)


DBP_HUMAN D site-binding protein (sprot)


D19L2_HUMAN Probable C-mannosyltransferase DPY19L2 (sprot)


COPZ2_HUMAN Coatomer subunit zeta-2 (sprot)


RAB8B_HUMAN Ras-related protein Rab-8B (sprot)


UB2D2_HUMAN Ubiquitin-conjugating enzyme E2 D2 (sprot)


MEX3C_HUMAN RNA-binding E3 ubiquitin-protein ligase MEX3C (sprot)


ASAP2_HUMAN Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 (sprot)


UB2E3_HUMAN Ubiquitin-conjugating enzyme E2 E3 (sprot)


PBLD_HUMAN Phenazine biosynthesis-like domain-containing protein (sprot)


RHG12_HUMAN Rho GTPase-activating protein 12 (sprot)


3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 (sprot)


TCPH_HUMAN T-complex protein 1 subunit eta (sprot)


GLSL_HUMAN Glutaminase liver isoform, mitochondrial (sprot)


combined pulmonary fibrosis-emphysema syndrome


MOGT2_HUMAN 2-acylglycerol O-acyltransferase 2 (sprot)


PLAT4_HUMAN Phospholipase A and acyltransferase 4 (sprot)


SYSC_HUMAN Serine--tRNA ligase, cytoplasmic (sprot)


BBS1_HUMAN Bardet-Biedl syndrome 1 protein (sprot)


RIT2_HUMAN GTP-binding protein Rit2 (sprot)


CCL25_HUMAN C-C motif chemokine 25 (sprot)


GBG13_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 (sprot)


EFS_HUMAN Embryonal Fyn-associated substrate (sprot)


VPS28_HUMAN Vacuolar protein sorting-associated protein 28 homolog (sprot)


T-cell/histiocyte rich large B cell lymphoma


hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


ACM1_HUMAN Muscarinic acetylcholine receptor M1 (sprot)


FWCH2_HUMAN FLYWCH family member 2 (sprot)


skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome


ACSF2_HUMAN Medium-chain acyl-CoA ligase ACSF2, mitochondrial (sprot)


TRAP1_HUMAN Heat shock protein 75 kDa, mitochondrial (sprot)


CL12A_HUMAN C-type lectin domain family 12 member A (sprot)


central nervous system primitive neuroectodermal neoplasm


ODFP4_HUMAN Outer dense fiber protein 4 (sprot)


RMC1_HUMAN Regulator of MON1-CCZ1 complex (sprot)


MN1_HUMAN Transcriptional activator MN1 (sprot)


XPF_HUMAN DNA repair endonuclease XPF (sprot)


DNJB4_HUMAN DnaJ homolog subfamily B member 4 (sprot)


esophageal small cell neuroendocrine carcinoma


NOVA2_HUMAN RNA-binding protein Nova-2 (sprot)


ZN300_HUMAN Zinc finger protein 300 (sprot)


autosomal recessive spinocerebellar ataxia 7


QRFPR_HUMAN Pyroglutamylated RF-amide peptide receptor (sprot)


RAPSN_HUMAN 43 kDa receptor-associated protein of the synapse (sprot)


ALKB5_HUMAN RNA demethylase ALKBH5 (sprot)


C1GLC_HUMAN C1GALT1-specific chaperone 1 (sprot)


MTMRE_HUMAN Myotubularin-related protein 14 (sprot)


PMM2-congenital disorder of glycosylation


ROBO1_HUMAN Roundabout homolog 1 (sprot)


TYW1B_HUMAN S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1B (sprot)


CP4AM_HUMAN Cytochrome P450 4A22 (sprot)


C2D1A_HUMAN Coiled-coil and C2 domain-containing protein 1A (sprot)


TBC15_HUMAN TBC1 domain family member 15 (sprot)


DHX8_HUMAN ATP-dependent RNA helicase DHX8 (sprot)


MASP1_HUMAN Mannan-binding lectin serine protease 1 (sprot)


bilateral acute depigmentation of the iris


familial isolated deficiency of vitamin E


DLK1_HUMAN Protein delta homolog 1 (sprot)


DJC18_HUMAN DnaJ homolog subfamily C member 18 (sprot)


paternal uniparental disomy of chromosome 20


HNRDL_HUMAN Heterogeneous nuclear ribonucleoprotein D-like (sprot)


PRIPO_HUMAN DNA-directed primase/polymerase protein (sprot)


LENG1_HUMAN Leukocyte receptor cluster member 1 (sprot)


congenital cataracts-facial dysmorphism-neuropathy syndrome


OFUT1_HUMAN GDP-fucose protein O-fucosyltransferase 1 (sprot)


SERC1_HUMAN Serine incorporator 1 (sprot)


Z518A_HUMAN Zinc finger protein 518A (sprot)


HES6_HUMAN Transcription cofactor HES-6 (sprot)


EFC11_HUMAN EF-hand calcium-binding domain-containing protein 11 (sprot)


CSKP_HUMAN Peripheral plasma membrane protein CASK (sprot)


COG8_HUMAN Conserved oligomeric Golgi complex subunit 8 (sprot)


TACT_HUMAN T-cell surface protein tactile (sprot)


SRTD2_HUMAN SERTA domain-containing protein 2 (sprot)


EI2BA_HUMAN Translation initiation factor eIF-2B subunit alpha (sprot)


multiple congenital anomalies-hypotonia-seizures syndrome 1


CLCA4_HUMAN Calcium-activated chloride channel regulator 4 (sprot)


CKLF6_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 6 (sprot)


HYPM_HUMAN Huntingtin-interacting protein M (sprot)


LSR_HUMAN Lipolysis-stimulated lipoprotein receptor (sprot)


RBM4_HUMAN RNA-binding protein 4 (sprot)


DLG3_HUMAN Disks large homolog 3 (sprot)


PTN3_HUMAN Tyrosine-protein phosphatase non-receptor type 3 (sprot)


TMPSC_HUMAN Transmembrane protease serine 12 (sprot)


DSCR4_HUMAN Down syndrome critical region protein 4 (sprot)


IGHA2_HUMAN Immunoglobulin heavy constant alpha 2 (sprot)


LSG1_HUMAN Large subunit GTPase 1 homolog (sprot)


NDK6_HUMAN Nucleoside diphosphate kinase 6 (sprot)


U520_HUMAN U5 small nuclear ribonucleoprotein 200 kDa helicase (sprot)


TOM7_HUMAN Mitochondrial import receptor subunit TOM7 homolog (sprot)


ABCAC_HUMAN Glucosylceramide transporter ABCA12 (sprot)


ITPR1_HUMAN Inositol 1,4,5-trisphosphate receptor type 1 (sprot)


KCNC1_HUMAN Potassium voltage-gated channel subfamily C member 1 (sprot)


MYBA_HUMAN Myb-related protein A (sprot)


SPHM_HUMAN N-sulphoglucosamine sulphohydrolase (sprot)


CBX3_HUMAN Chromobox protein homolog 3 (sprot)


P2R3C_HUMAN Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma (sprot)


TIMD4_HUMAN T-cell immunoglobulin and mucin domain-containing protein 4 (sprot)


ZBT11_HUMAN Zinc finger and BTB domain-containing protein 11 (sprot)


AKD1B_HUMAN Ankyrin repeat and death domain-containing protein 1B (sprot)


epidermolysis bullosa simplex 5C, with pyloric atresia


TM100_HUMAN Transmembrane protein 100 (sprot)


M10L1_HUMAN RNA helicase Mov10l1 (sprot)


aldosterone-producing adrenal cortex adenoma


BAG3_HUMAN BAG family molecular chaperone regulator 3 (sprot)


HXB4_HUMAN Homeobox protein Hox-B4 (sprot)


TVA29_HUMAN T cell receptor alpha variable 29/delta variable 5 (sprot)


CNEP1_HUMAN CTD nuclear envelope phosphatase 1 (sprot)


CNBP_HUMAN CCHC-type zinc finger nucleic acid binding protein (sprot)


C2CD5_HUMAN C2 domain-containing protein 5 (sprot)


LPAL2_HUMAN Putative apolipoprotein(a)-like protein 2 (sprot)


PPBN_HUMAN Alkaline phosphatase, germ cell type (sprot)


TRIL_HUMAN TLR4 interactor with leucine rich repeats (sprot)


TCF23_HUMAN Transcription factor 23 (sprot)


CLCF1_HUMAN Cardiotrophin-like cytokine factor 1 (sprot)


RBL2_HUMAN Retinoblastoma-like protein 2 (sprot)


PSF3_HUMAN DNA replication complex GINS protein PSF3 (sprot)


GCP3_HUMAN Gamma-tubulin complex component 3 (sprot)


ARMS2_HUMAN Age-related maculopathy susceptibility protein 2 (sprot)


MY18A_HUMAN Unconventional myosin-XVIIIa (sprot)


RMD1_HUMAN Regulator of microtubule dynamics protein 1 (sprot)


RBM46_HUMAN Probable RNA-binding protein 46 (sprot)


RM03_HUMAN 39S ribosomal protein L3, mitochondrial (sprot)


SIR3_HUMAN NAD-dependent protein deacetylase sirtuin-3, mitochondrial (sprot)


familial or sporadic hemiplegic migraine


RT11_HUMAN 28S ribosomal protein S11, mitochondrial (sprot)


FXR1_HUMAN RNA-binding protein FXR1 (sprot)


FXL19_HUMAN F-box/LRR-repeat protein 19 (sprot)


IgG4-related dacryoadenitis and sialadenitis


PLAC9_HUMAN Placenta-specific protein 9 (sprot)


mixed epithelial/mesenchymal metaplastic breast carcinoma


46,XY ovotesticular disorder of sex development


IMA6_HUMAN Importin subunit alpha-6 (sprot)


LMX1A_HUMAN LIM homeobox transcription factor 1-alpha (sprot)


RAB1A_HUMAN Ras-related protein Rab-1A (sprot)


STXB6_HUMAN Syntaxin-binding protein 6 (sprot)


FXL20_HUMAN F-box/LRR-repeat protein 20 (sprot)


COMD2_HUMAN COMM domain-containing protein 2 (sprot)


LUZP4_HUMAN Leucine zipper protein 4 (sprot)


MYL6B_HUMAN Myosin light chain 6B (sprot)


CCL7_HUMAN C-C motif chemokine 7 (sprot)


ZHX2_HUMAN Zinc fingers and homeoboxes protein 2 (sprot)


ACPM_HUMAN Acyl carrier protein, mitochondrial (sprot)


NP1L4_HUMAN Nucleosome assembly protein 1-like 4 (sprot)


KCNA7_HUMAN Potassium voltage-gated channel subfamily A member 7 (sprot)


CSN7B_HUMAN COP9 signalosome complex subunit 7b (sprot)


CFA57_HUMAN Cilia- and flagella-associated protein 57 (sprot)


TNG6_HUMAN Transport and Golgi organization protein 6 homolog (sprot)


SUZ12_HUMAN Polycomb protein SUZ12 (sprot)


TAFA1_HUMAN Chemokine-like protein TAFA-1 (sprot)


hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration


T2R60_HUMAN Taste receptor type 2 member 60 (sprot)


GRIN2_HUMAN G protein-regulated inducer of neurite outgrowth 2 (sprot)


CXL17_HUMAN C-X-C motif chemokine 17 (sprot)


HEAT6_HUMAN HEAT repeat-containing protein 6 (sprot)


COMD8_HUMAN COMM domain-containing protein 8 (sprot)


NALP7_HUMAN NACHT, LRR and PYD domains-containing protein 7 (sprot)


F172A_HUMAN Cotranscriptional regulator FAM172A (sprot)


CTSL2_HUMAN CTD small phosphatase-like protein 2 (sprot)


immunodeficiency due to a late component of complement deficiency


DRS7B_HUMAN Dehydrogenase/reductase SDR family member 7B (sprot)


congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency


PSME1_HUMAN Proteasome activator complex subunit 1 (sprot)


PSMG3_HUMAN Proteasome assembly chaperone 3 (sprot)


MYO5A_HUMAN Unconventional myosin-Va (sprot)


BCL7A_HUMAN B-cell CLL/lymphoma 7 protein family member A (sprot)


TSTD2_HUMAN Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2 (sprot)


CEPT1_HUMAN Choline/ethanolaminephosphotransferase 1 (sprot)


LY6D_HUMAN Lymphocyte antigen 6D (sprot)


NDUS7_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial (sprot)


AGTR1_HUMAN Type-1 angiotensin II receptor (sprot)


ABHDA_HUMAN Palmitoyl-protein thioesterase ABHD10, mitochondrial (sprot)


acyl-CoA binding domain containing protein 5 deficiency


FOXC2_HUMAN Forkhead box protein C2 (sprot)


O51E1_HUMAN Olfactory receptor 51E1 (sprot)


PDCD6_HUMAN Programmed cell death protein 6 (sprot)


FNBP1_HUMAN Formin-binding protein 1 (sprot)


MYO1E_HUMAN Unconventional myosin-Ie (sprot)


AIMP2_HUMAN Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 (sprot)


SOX9_HUMAN Transcription factor SOX-9 (sprot)


PD2R2_HUMAN Prostaglandin D2 receptor 2 (sprot)


carbon monoxide-induced delayed encephalopathy


MD13L_HUMAN Mediator of RNA polymerase II transcription subunit 13-like (sprot)


LFTY2_HUMAN Left-right determination factor 2 (sprot)


KNL1_HUMAN Kinetochore scaffold 1 (sprot)


RAG2_HUMAN V(D)J recombination-activating protein 2 (sprot)


MIIP_HUMAN Migration and invasion-inhibitory protein (sprot)


ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 (sprot)


FOXO6_HUMAN Forkhead box protein O6 (sprot)


NF2IP_HUMAN NFATC2-interacting protein (sprot)


RRBP1_HUMAN Ribosome-binding protein 1 (sprot)


LY65C_HUMAN Lymphocyte antigen 6 complex locus protein G5c (sprot)


T132A_HUMAN Transmembrane protein 132A (sprot)


GPER1_HUMAN G-protein coupled estrogen receptor 1 (sprot)


MYCP1_HUMAN Putative myc-like protein MYCLP1 (sprot)


MPP7_HUMAN MAGUK p55 subfamily member 7 (sprot)


PZRN3_HUMAN E3 ubiquitin-protein ligase PDZRN3 (sprot)


AT2B1_HUMAN Plasma membrane calcium-transporting ATPase 1 (sprot)


KANK4_HUMAN KN motif and ankyrin repeat domain-containing protein 4 (sprot)


KIRR1_HUMAN Kin of IRRE-like protein 1 (sprot)


FAAH1_HUMAN Fatty-acid amide hydrolase 1 (sprot)


ERO1A_HUMAN ERO1-like protein alpha (sprot)


VHL_HUMAN von Hippel-Lindau disease tumor suppressor (sprot)


VPS72_HUMAN Vacuolar protein sorting-associated protein 72 homolog (sprot)


GRHL3_HUMAN Grainyhead-like protein 3 homolog (sprot)


RAB3B_HUMAN Ras-related protein Rab-3B (sprot)


LYRM1_HUMAN LYR motif-containing protein 1 (sprot)


TIAM2_HUMAN Rho guanine nucleotide exchange factor TIAM2 (sprot)


MDFIC_HUMAN MyoD family inhibitor domain-containing protein (sprot)


FCG2A_HUMAN Low affinity immunoglobulin gamma Fc region receptor II-a (sprot)


FANCJ_HUMAN Fanconi anemia group J protein (sprot)


RIM3A_HUMAN RIMS-binding protein 3A (sprot)


GBRA4_HUMAN Gamma-aminobutyric acid receptor subunit alpha-4 (sprot)


PPCT_HUMAN Phosphatidylcholine transfer protein (sprot)


CAN1_HUMAN Calpain-1 catalytic subunit (sprot)


CSN3_HUMAN COP9 signalosome complex subunit 3 (sprot)


SFTA1_HUMAN Pulmonary surfactant-associated protein A1 (sprot)


GPR37_HUMAN Prosaposin receptor GPR37 (sprot)


FHL2_HUMAN Four and a half LIM domains protein 2 (sprot)


NHRF4_HUMAN Na(+)/H(+) exchange regulatory cofactor NHE-RF4 (sprot)


KPCI_HUMAN Protein kinase C iota type (sprot)


FBCD1_HUMAN Fibrinogen C domain-containing protein 1 (sprot)


DHRS3_HUMAN Short-chain dehydrogenase/reductase 3 (sprot)


TAP2_HUMAN Antigen peptide transporter 2 (sprot)


LTBP3_HUMAN Latent-transforming growth factor beta-binding protein 3 (sprot)


UBP38_HUMAN Ubiquitin carboxyl-terminal hydrolase 38 (sprot)


RS6_HUMAN 40S ribosomal protein S6 (sprot)


SIAH2_HUMAN E3 ubiquitin-protein ligase SIAH2 (sprot)


FGFR1_HUMAN Fibroblast growth factor receptor 1 (sprot)


TYRP2_HUMAN L-dopachrome tautomerase (sprot)


PCOC2_HUMAN Procollagen C-endopeptidase enhancer 2 (sprot)


PEX26_HUMAN Peroxisome assembly protein 26 (sprot)


autosomal recessive nonsyndromic hearing loss 74


TM215_HUMAN Transmembrane protein 215 (sprot)


LPIN1_HUMAN Phosphatidate phosphatase LPIN1 (sprot)


MYLK3_HUMAN Myosin light chain kinase 3 (sprot)


SIA4B_HUMAN CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 (sprot)


EIF2D_HUMAN Eukaryotic translation initiation factor 2D (sprot)


TPC11_HUMAN Trafficking protein particle complex subunit 11 (sprot)


APBB2_HUMAN Amyloid beta precursor protein binding family B member 2 (sprot)


F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 (sprot)


SPF27_HUMAN Pre-mRNA-splicing factor SPF27 (sprot)


TMM98_HUMAN Transmembrane protein 98 (sprot)


GPSM1_HUMAN G-protein-signaling modulator 1 (sprot)


MD2BP_HUMAN MAD2L1-binding protein (sprot)


DRB4_HUMAN HLA class II histocompatibility antigen, DR beta 4 chain (sprot)


S2542_HUMAN Mitochondrial coenzyme A transporter SLC25A42 (sprot)


S38A5_HUMAN Sodium-coupled neutral amino acid transporter 5 (sprot)


autosomal recessive nonsyndromic hearing loss 23


SLC31_HUMAN Neutral and basic amino acid transport protein rBAT (sprot)


BUB1_HUMAN Mitotic checkpoint serine/threonine-protein kinase BUB1 (sprot)


TMM65_HUMAN Transmembrane protein 65 (sprot)


(2-(7-(2-(4-Cyano-2-fluorophenoxy)ethyl)-9-oxa-3,7-diazabicyclo(3.3.1)non-3-yl)ethyl)carbamic acid tert-butyl ester


CHD1L_HUMAN Chromodomain-helicase-DNA-binding protein 1-like (sprot)


CTIF_HUMAN CBP80/20-dependent translation initiation factor (sprot)


DCA11_HUMAN DDB1- and CUL4-associated factor 11 (sprot)


PSRC1_HUMAN Proline/serine-rich coiled-coil protein 1 (sprot)


MAP6_HUMAN Microtubule-associated protein 6 (sprot)


T2FB_HUMAN General transcription factor IIF subunit 2 (sprot)


ZMAT1_HUMAN Zinc finger matrin-type protein 1 (sprot)


EVPLL_HUMAN Envoplakin-like protein (sprot)


TKTL1_HUMAN Transketolase-like protein 1 (sprot)


MTCL1_HUMAN Microtubule cross-linking factor 1 (sprot)


CIKS_HUMAN E3 ubiquitin ligase TRAF3IP2 (sprot)


UBP51_HUMAN Ubiquitin carboxyl-terminal hydrolase 51 (sprot)


ZG16_HUMAN Zymogen granule membrane protein 16 (sprot)


TNR16_HUMAN Tumor necrosis factor receptor superfamily member 16 (sprot)


ANKR6_HUMAN Ankyrin repeat domain-containing protein 6 (sprot)


S6A19_HUMAN Sodium-dependent neutral amino acid transporter B(0)AT1 (sprot)


SNAA_HUMAN Alpha-soluble NSF attachment protein (sprot)


GLT14_HUMAN Polypeptide N-acetylgalactosaminyltransferase 14 (sprot)


CYLD_HUMAN Ubiquitin carboxyl-terminal hydrolase CYLD (sprot)


UB2E1_HUMAN Ubiquitin-conjugating enzyme E2 E1 (sprot)


Guanosine, 2'-deoxy-6-O-ethyl-2'-fluoro-2'-methyl-, cyclic 3',5'-(1-methylethyl (R)-phosphate), (2'R)-


LAAT1_HUMAN Lysosomal amino acid transporter 1 homolog (sprot)


SMC5_HUMAN Structural maintenance of chromosomes protein 5 (sprot)


TJAP1_HUMAN Tight junction-associated protein 1 (sprot)


RT34_HUMAN 28S ribosomal protein S34, mitochondrial (sprot)


MEP50_HUMAN Methylosome protein 50 (sprot)


autosomal recessive nonsyndromic hearing loss 42


cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome


CAB45_HUMAN 45 kDa calcium-binding protein (sprot)


ALDH2_HUMAN Aldehyde dehydrogenase, mitochondrial (sprot)


ROP1L_HUMAN Ropporin-1-like protein (sprot)


INP5K_HUMAN Inositol polyphosphate 5-phosphatase K (sprot)


PSA5_HUMAN Proteasome subunit alpha type-5 (sprot)


SMN_HUMAN Survival motor neuron protein (sprot)


BICRA_HUMAN BRD4-interacting chromatin-remodeling complex-associated protein (sprot)


ESYT2_HUMAN Extended synaptotagmin-2 (sprot)


CLCN1_HUMAN Chloride channel protein 1 (sprot)


PAPOA_HUMAN Poly(A) polymerase alpha (sprot)


TM225_HUMAN Transmembrane protein 225 (sprot)


PTN18_HUMAN Tyrosine-protein phosphatase non-receptor type 18 (sprot)


DHX58_HUMAN ATP-dependent RNA helicase DHX58 (sprot)


TRPM7_HUMAN Transient receptor potential cation channel subfamily M member 7 (sprot)


EBLN1_HUMAN Endogenous Bornavirus-like nucleoprotein 1 (sprot)


YETS2_HUMAN YEATS domain-containing protein 2 (sprot)


congenital dyserythropoietic anemia type 1


ZFAT_HUMAN Zinc finger protein ZFAT (sprot)


RAB24_HUMAN Ras-related protein Rab-24 (sprot)


WHAMM_HUMAN WASP homolog-associated protein with actin, membranes and microtubules (sprot)


H6ST3_HUMAN Heparan-sulfate 6-O-sulfotransferase 3 (sprot)


FOLC_HUMAN Folylpolyglutamate synthase, mitochondrial (sprot)


TM87B_HUMAN Transmembrane protein 87B (sprot)


RGMB_HUMAN Repulsive guidance molecule B (sprot)


ERRFI_HUMAN ERBB receptor feedback inhibitor 1 (sprot)


familial focal epilepsy with variable foci


CD69_HUMAN Early activation antigen CD69 (sprot)


TFDP2_HUMAN Transcription factor Dp-2 (sprot)


catecholaminergic polymorphic ventricular tachycardia


FXYD6_HUMAN FXYD domain-containing ion transport regulator 6 (sprot)


PPM1K_HUMAN Protein phosphatase 1K, mitochondrial (sprot)


RNPC3_HUMAN RNA-binding region-containing protein 3 (sprot)


SULF1_HUMAN Extracellular sulfatase Sulf-1 (sprot)


RBGP1_HUMAN Rab GTPase-activating protein 1 (sprot)


P4HA1_HUMAN Prolyl 4-hydroxylase subunit alpha-1 (sprot)


MYO1G_HUMAN Unconventional myosin-Ig (sprot)


NAL14_HUMAN NACHT, LRR and PYD domains-containing protein 14 (sprot)


MTOR_HUMAN Serine/threonine-protein kinase mTOR (sprot)


XRRA1_HUMAN X-ray radiation resistance-associated protein 1 (sprot)


GA45B_HUMAN Growth arrest and DNA damage-inducible protein GADD45 beta (sprot)


SRP68_HUMAN Signal recognition particle subunit SRP68 (sprot)


constitutional megaloblastic anemia with severe neurologic disease


RAB9A_HUMAN Ras-related protein Rab-9A (sprot)


CAF1B_HUMAN Chromatin assembly factor 1 subunit B (sprot)


GTR14_HUMAN Solute carrier family 2, facilitated glucose transporter member 14 (sprot)


PDIA3_HUMAN Protein disulfide-isomerase A3 (sprot)


MED14_HUMAN Mediator of RNA polymerase II transcription subunit 14 (sprot)


UBP30_HUMAN Ubiquitin carboxyl-terminal hydrolase 30 (sprot)


autosomal dominant polycystic liver disease


FREM1_HUMAN FRAS1-related extracellular matrix protein 1 (sprot)


HRG_HUMAN Histidine-rich glycoprotein (sprot)


FOXI3_HUMAN Forkhead box protein I3 (sprot)


deaf blind hypopigmentation syndrome, Yemenite type


ASPM_HUMAN Abnormal spindle-like microcephaly-associated protein (sprot)


CTG1B_HUMAN Cancer/testis antigen 1 (sprot)


HSP13_HUMAN Heat shock 70 kDa protein 13 (sprot)


BORC5_HUMAN BLOC-1-related complex subunit 5 (sprot)


RREB1_HUMAN Ras-responsive element-binding protein 1 (sprot)


LRC31_HUMAN Leucine-rich repeat-containing protein 31 (sprot)


ETFD_HUMAN Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial (sprot)


TGO1_HUMAN Transport and Golgi organization protein 1 homolog (sprot)


EMC4_HUMAN ER membrane protein complex subunit 4 (sprot)


ACM4_HUMAN Muscarinic acetylcholine receptor M4 (sprot)


AKAP4_HUMAN A-kinase anchor protein 4 (sprot)


K2C7_HUMAN Keratin, type II cytoskeletal 7 (sprot)


NACA2_HUMAN Nascent polypeptide-associated complex subunit alpha-2 (sprot)


CRUM1_HUMAN Protein crumbs homolog 1 (sprot)


DRD1_HUMAN D(1A) dopamine receptor (sprot)


ESRP1_HUMAN Epithelial splicing regulatory protein 1 (sprot)


ACO13_HUMAN Acyl-coenzyme A thioesterase 13 (sprot)


PKHG6_HUMAN Pleckstrin homology domain-containing family G member 6 (sprot)


ASCC3_HUMAN Activating signal cointegrator 1 complex subunit 3 (sprot)


classic or attenuated familial adenomatous polyposis


CN37_HUMAN 2',3'-cyclic-nucleotide 3'-phosphodiesterase (sprot)


ZO1_HUMAN Tight junction protein ZO-1 (sprot)


K1C15_HUMAN Keratin, type I cytoskeletal 15 (sprot)


RBM6_HUMAN RNA-binding protein 6 (sprot)


CPEB1_HUMAN Cytoplasmic polyadenylation element-binding protein 1 (sprot)


obesity due to pro-opiomelanocortin deficiency


HEPS_HUMAN Serine protease hepsin (sprot)


PSPB_HUMAN Pulmonary surfactant-associated protein B (sprot)


BRS3_HUMAN Bombesin receptor subtype-3 (sprot)


I17RA_HUMAN Interleukin-17 receptor A (sprot)


FXR2_HUMAN RNA-binding protein FXR2 (sprot)


OTUB1_HUMAN Ubiquitin thioesterase OTUB1 (sprot)


congenital stationary night blindness autosomal dominant 3


FOG2_HUMAN Zinc finger protein ZFPM2 (sprot)


MATK_HUMAN Megakaryocyte-associated tyrosine-protein kinase (sprot)


CBPC5_HUMAN Cytosolic carboxypeptidase-like protein 5 (sprot)


DMRTD_HUMAN Doublesex- and mab-3-related transcription factor C2 (sprot)


RNB3L_HUMAN Ran-binding protein 3-like (sprot)


striatal degeneration, autosomal dominant


MEX3B_HUMAN RNA-binding protein MEX3B (sprot)


GRWD1_HUMAN Glutamate-rich WD repeat-containing protein 1 (sprot)


well-differentiated thymic neuroendocrine carcinoma


MEOX1_HUMAN Homeobox protein MOX-1 (sprot)


IL3RA_HUMAN Interleukin-3 receptor subunit alpha (sprot)


PRPC_HUMAN Salivary acidic proline-rich phosphoprotein 1/2 (sprot)


S6A20_HUMAN Sodium- and chloride-dependent transporter XTRP3 (sprot)


MICA_HUMAN MHC class I polypeptide-related sequence A (sprot)


BRAF_HUMAN Serine/threonine-protein kinase B-raf (sprot)


LRP11_HUMAN Low-density lipoprotein receptor-related protein 11 (sprot)


TRPC3_HUMAN Short transient receptor potential channel 3 (sprot)


PP6R3_HUMAN Serine/threonine-protein phosphatase 6 regulatory subunit 3 (sprot)


ANKS3_HUMAN Ankyrin repeat and SAM domain-containing protein 3 (sprot)


CA2D2_HUMAN Voltage-dependent calcium channel subunit alpha-2/delta-2 (sprot)


PANK2_HUMAN Pantothenate kinase 2, mitochondrial (sprot)


SOM2_HUMAN Growth hormone variant (sprot)


CAVN2_HUMAN Caveolae-associated protein 2 (sprot)


G6PD_HUMAN Glucose-6-phosphate 1-dehydrogenase (sprot)


SCAM3_HUMAN Secretory carrier-associated membrane protein 3 (sprot)


JKIP3_HUMAN Janus kinase and microtubule-interacting protein 3 (sprot)


THAP1_HUMAN THAP domain-containing protein 1 (sprot)


CARD9_HUMAN Caspase recruitment domain-containing protein 9 (sprot)


LSM8_HUMAN U6 snRNA-associated Sm-like protein LSm8 (sprot)


Curly hair - acral keratoderma - caries syndrome


AMERL_HUMAN AMMECR1-like protein (sprot)


MRCKB_HUMAN Serine/threonine-protein kinase MRCK beta (sprot)


B4GN3_HUMAN Beta-1,4-N-acetylgalactosaminyltransferase 3 (sprot)


CD72_HUMAN B-cell differentiation antigen CD72 (sprot)


STAC3_HUMAN SH3 and cysteine-rich domain-containing protein 3 (sprot)


HPCL4_HUMAN Hippocalcin-like protein 4 (sprot)


NUBP1_HUMAN Cytosolic Fe-S cluster assembly factor NUBP1 (sprot)


peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome


CHST1_HUMAN Carbohydrate sulfotransferase 1 (sprot)


AP4M1_HUMAN AP-4 complex subunit mu-1 (sprot)


RPGF1_HUMAN Rap guanine nucleotide exchange factor 1 (sprot)


TM205_HUMAN Transmembrane protein 205 (sprot)


maternal uniparental disomy of chromosome 1


CDS2_HUMAN Phosphatidate cytidylyltransferase 2 (sprot)


INGR2_HUMAN Interferon gamma receptor 2 (sprot)


STAP1_HUMAN Signal-transducing adaptor protein 1 (sprot)


VPS25_HUMAN Vacuolar protein-sorting-associated protein 25 (sprot)


E4F1_HUMAN Transcription factor E4F1 (sprot)


RFIP3_HUMAN Rab11 family-interacting protein 3 (sprot)


PROL4_HUMAN Proline-rich protein 4 (sprot)


ORC1_HUMAN Origin recognition complex subunit 1 (sprot)


chronic intestinal vascular insufficiency


DEFI8_HUMAN Differentially expressed in FDCP 8 homolog (sprot)


GBRA1_HUMAN Gamma-aminobutyric acid receptor subunit alpha-1 (sprot)


EDF1_HUMAN Endothelial differentiation-related factor 1 (sprot)


SLIK2_HUMAN SLIT and NTRK-like protein 2 (sprot)


MTHR_HUMAN Methylenetetrahydrofolate reductase (sprot)


GNAI1_HUMAN Guanine nucleotide-binding protein G(i) subunit alpha-1 (sprot)


PGRC1_HUMAN Membrane-associated progesterone receptor component 1 (sprot)


VWA1_HUMAN von Willebrand factor A domain-containing protein 1 (sprot)


STAP2_HUMAN Signal-transducing adaptor protein 2 (sprot)


DLX5_HUMAN Homeobox protein DLX-5 (sprot)


ROMO1_HUMAN Reactive oxygen species modulator 1 (sprot)


S38A4_HUMAN Sodium-coupled neutral amino acid transporter 4 (sprot)


S35B4_HUMAN UDP-xylose and UDP-N-acetylglucosamine transporter (sprot)


RBM8A_HUMAN RNA-binding protein 8A (sprot)


PPIL3_HUMAN Peptidyl-prolyl cis-trans isomerase-like 3 (sprot)


SYDE1_HUMAN Rho GTPase-activating protein SYDE1 (sprot)


CCL15_HUMAN C-C motif chemokine 15 (sprot)


RL36_HUMAN 60S ribosomal protein L36 (sprot)


muscular dystrophy-dystroglycanopathy type B6


PAXI1_HUMAN PAX-interacting protein 1 (sprot)


DYHC1_HUMAN Cytoplasmic dynein 1 heavy chain 1 (sprot)


IPP2_HUMAN Protein phosphatase inhibitor 2 (sprot)


RFIP2_HUMAN Rab11 family-interacting protein 2 (sprot)


FEZF1_HUMAN Fez family zinc finger protein 1 (sprot)


ATG4B_HUMAN Cysteine protease ATG4B (sprot)


TS1R3_HUMAN Taste receptor type 1 member 3 (sprot)


PHF2_HUMAN Lysine-specific demethylase PHF2 (sprot)


S12A2_HUMAN Solute carrier family 12 member 2 (sprot)


NREP_HUMAN Neuronal regeneration-related protein (sprot)


HAVR1_HUMAN Hepatitis A virus cellular receptor 1 (sprot)


ZSC18_HUMAN Zinc finger and SCAN domain-containing protein 18 (sprot)


BRE1B_HUMAN E3 ubiquitin-protein ligase BRE1B (sprot)


PER2_HUMAN Period circadian protein homolog 2 (sprot)


AZI2_HUMAN 5-azacytidine-induced protein 2 (sprot)


WDR46_HUMAN WD repeat-containing protein 46 (sprot)


EPHB3_HUMAN Ephrin type-B receptor 3 (sprot)


HIF1A_HUMAN Hypoxia-inducible factor 1-alpha (sprot)


IYD1_HUMAN Iodotyrosine deiodinase 1 (sprot)


EPHA6_HUMAN Ephrin type-A receptor 6 (sprot)


ACDSB_HUMAN Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial (sprot)


RET2_HUMAN Retinol-binding protein 2 (sprot)


ABCA4_HUMAN Retinal-specific phospholipid-transporting ATPase ABCA4 (sprot)


SOCS6_HUMAN Suppressor of cytokine signaling 6 (sprot)


FAF1_HUMAN FAS-associated factor 1 (sprot)


circadian rhythm sleep disorder, delayed sleep phase type


COX41_HUMAN Cytochrome c oxidase subunit 4 isoform 1, mitochondrial (sprot)


HDA10_HUMAN Polyamine deacetylase HDAC10 (sprot)


CABIN_HUMAN Calcineurin-binding protein cabin-1 (sprot)


GPTC3_HUMAN G patch domain-containing protein 3 (sprot)


KIF25_HUMAN Kinesin-like protein KIF25 (sprot)


autosomal recessive sideroblastic anemia


PUS7_HUMAN Pseudouridylate synthase 7 homolog (sprot)


NOP14_HUMAN Nucleolar protein 14 (sprot)


UBP6_HUMAN Ubiquitin carboxyl-terminal hydrolase 6 (sprot)


LRC18_HUMAN Leucine-rich repeat-containing protein 18 (sprot)


ASPP2_HUMAN Apoptosis-stimulating of p53 protein 2 (sprot)


RASFA_HUMAN Ras association domain-containing protein 10 (sprot)


RND2_HUMAN Rho-related GTP-binding protein RhoN (sprot)


VISL1_HUMAN Visinin-like protein 1 (sprot)


BTK_HUMAN Tyrosine-protein kinase BTK (sprot)


LPCT4_HUMAN Lysophospholipid acyltransferase LPCAT4 (sprot)


PIBF1_HUMAN Progesterone-induced-blocking factor 1 (sprot)


CETP_HUMAN Cholesteryl ester transfer protein (sprot)


SYTL1_HUMAN Synaptotagmin-like protein 1 (sprot)


IL18R_HUMAN Interleukin-18 receptor 1 (sprot)


CLCKB_HUMAN Chloride channel protein ClC-Kb (sprot)


MANS1_HUMAN MANSC domain-containing protein 1 (sprot)


AWAT2_HUMAN Acyl-CoA wax alcohol acyltransferase 2 (sprot)


MLKL_HUMAN Mixed lineage kinase domain-like protein (sprot)


REN3A_HUMAN Regulator of nonsense transcripts 3A (sprot)


COE4_HUMAN Transcription factor COE4 (sprot)


CT55_HUMAN Cancer/testis antigen 55 (sprot)


CRIP2_HUMAN Cysteine-rich protein 2 (sprot)


S22AF_HUMAN Solute carrier family 22 member 15 (sprot)


MK09_HUMAN Mitogen-activated protein kinase 9 (sprot)


autosomal dominant hypophosphatemic rickets


TNR5_HUMAN Tumor necrosis factor receptor superfamily member 5 (sprot)


PXMP2_HUMAN Peroxisomal membrane protein 2 (sprot)


UNC5D_HUMAN Netrin receptor UNC5D (sprot)


DPF1_HUMAN Zinc finger protein neuro-d4 (sprot)


PTHD3_HUMAN Patched domain-containing protein 3 (sprot)


GSC_HUMAN Homeobox protein goosecoid (sprot)


PPIG_HUMAN Peptidyl-prolyl cis-trans isomerase G (sprot)


G6PT2_HUMAN Glucose-6-phosphate exchanger SLC37A1 (sprot)


B2L13_HUMAN Bcl-2-like protein 13 (sprot)


CHIC1_HUMAN Cysteine-rich hydrophobic domain-containing protein 1 (sprot)


O10A4_HUMAN Olfactory receptor 10A4 (sprot)


EGR3_HUMAN Early growth response protein 3 (sprot)


SORC3_HUMAN VPS10 domain-containing receptor SorCS3 (sprot)


CNIH2_HUMAN Protein cornichon homolog 2 (sprot)


NDUC1_HUMAN NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial (sprot)


MBD4_HUMAN Methyl-CpG-binding domain protein 4 (sprot)


INKA1_HUMAN PAK4-inhibitor INKA1 (sprot)


KISS1_HUMAN Metastasis-suppressor KiSS-1 (sprot)


VGF_HUMAN Neurosecretory protein VGF (sprot)


ZNF83_HUMAN Zinc finger protein 83 (sprot)


LCE3E_HUMAN Late cornified envelope protein 3E (sprot)


OPCM_HUMAN Opioid-binding protein/cell adhesion molecule (sprot)


NDUS6_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial (sprot)


TBCA_HUMAN Tubulin-specific chaperone A (sprot)


ALX4_HUMAN Homeobox protein aristaless-like 4 (sprot)


NKG2F_HUMAN NKG2-F type II integral membrane protein (sprot)


AL1A2_HUMAN Retinal dehydrogenase 2 (sprot)


TM218_HUMAN Transmembrane protein 218 (sprot)


PCDA4_HUMAN Protocadherin alpha-4 (sprot)


LARG1_HUMAN Xylosyl- and glucuronyltransferase LARGE1 (sprot)


LRFN1_HUMAN Leucine-rich repeat and fibronectin type III domain-containing protein 1 (sprot)


NFIB_HUMAN Nuclear factor 1 B-type (sprot)


PSMG2_HUMAN Proteasome assembly chaperone 2 (sprot)


NTR1_HUMAN Neurotensin receptor type 1 (sprot)


benign concentric annular macular dystrophy


IRF4_HUMAN Interferon regulatory factor 4 (sprot)


keratosis follicularis spinulosa decalvans


GP132_HUMAN Probable G-protein coupled receptor 132 (sprot)


RL19_HUMAN 60S ribosomal protein L19 (sprot)


CREB5_HUMAN Cyclic AMP-responsive element-binding protein 5 (sprot)


CAHD1_HUMAN VWFA and cache domain-containing protein 1 (sprot)


ITIH4_HUMAN Inter-alpha-trypsin inhibitor heavy chain H4 (sprot)


SRCN1_HUMAN SRC kinase signaling inhibitor 1 (sprot)


PRG2_HUMAN Bone marrow proteoglycan (sprot)


colon small cell neuroendocrine carcinoma


autosomal recessive nonsyndromic hearing loss 28


ATPMK_HUMAN ATP synthase membrane subunit K, mitochondrial (sprot)


ATS13_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 13 (sprot)


Charcot-Marie-Tooth disease X-linked recessive 5


PKHG5_HUMAN Pleckstrin homology domain-containing family G member 5 (sprot)


MPPA_HUMAN Mitochondrial-processing peptidase subunit alpha (sprot)


food protein-induced enterocolitis syndrome


PRDM6_HUMAN Putative histone-lysine N-methyltransferase PRDM6 (sprot)


RRAGD_HUMAN Ras-related GTP-binding protein D (sprot)


CLOCK_HUMAN Circadian locomoter output cycles protein kaput (sprot)


BIRC8_HUMAN Baculoviral IAP repeat-containing protein 8 (sprot)


NKAP_HUMAN NF-kappa-B-activating protein (sprot)


ECM29_HUMAN Proteasome adapter and scaffold protein ECM29 (sprot)


ESTD_HUMAN S-formylglutathione hydrolase (sprot)


RDH8_HUMAN Retinol dehydrogenase 8 (sprot)


H2B1M_HUMAN Histone H2B type 1-M (sprot)


HNRH2_HUMAN Heterogeneous nuclear ribonucleoprotein H2 (sprot)


APOC3_HUMAN Apolipoprotein C-III (sprot)


ADAM2_HUMAN Disintegrin and metalloproteinase domain-containing protein 2 (sprot)


UN13A_HUMAN Protein unc-13 homolog A (sprot)


4EBP3_HUMAN Eukaryotic translation initiation factor 4E-binding protein 3 (sprot)


LRBA_HUMAN Lipopolysaccharide-responsive and beige-like anchor protein (sprot)


FOXL1_HUMAN Forkhead box protein L1 (sprot)


UD2A3_HUMAN UDP-glucuronosyltransferase 2A3 (sprot)


adult acute respiratory distress syndrome


HDAC1_HUMAN Histone deacetylase 1 (sprot)


TSPO2_HUMAN Translocator protein 2 (sprot)


ARG28_HUMAN Rho guanine nucleotide exchange factor 28 (sprot)


BIN1_HUMAN Myc box-dependent-interacting protein 1 (sprot)


SERP2_HUMAN Stress-associated endoplasmic reticulum protein 2 (sprot)


B3A3_HUMAN Anion exchange protein 3 (sprot)


digestive system neuroendocrine tumor, grade 1/2


THEM4_HUMAN Acyl-coenzyme A thioesterase THEM4 (sprot)


PAX4_HUMAN Paired box protein Pax-4 (sprot)


KMT2E_HUMAN Inactive histone-lysine N-methyltransferase 2E (sprot)


ZSWM5_HUMAN Zinc finger SWIM domain-containing protein 5 (sprot)


PAI2B_HUMAN Polyadenylate-binding protein-interacting protein 2B (sprot)


THNS2_HUMAN Threonine synthase-like 2 (sprot)


KCNJ2_HUMAN Inward rectifier potassium channel 2 (sprot)


SNED1_HUMAN Sushi, nidogen and EGF-like domain-containing protein 1 (sprot)


E2F2_HUMAN Transcription factor E2F2 (sprot)


KLC1_HUMAN Kinesin light chain 1 (sprot)


DPH5_HUMAN Diphthine methyl ester synthase (sprot)


CLC1B_HUMAN C-type lectin domain family 1 member B (sprot)


LOXE3_HUMAN Hydroperoxide isomerase ALOXE3 (sprot)


AAMP_HUMAN Angio-associated migratory cell protein (sprot)


SIPA1_HUMAN Signal-induced proliferation-associated protein 1 (sprot)


FCRL4_HUMAN Fc receptor-like protein 4 (sprot)


TTC9A_HUMAN Tetratricopeptide repeat protein 9A (sprot)


PLPL8_HUMAN Calcium-independent phospholipase A2-gamma (sprot)


FBXL4_HUMAN F-box/LRR-repeat protein 4 (sprot)


DDX11_HUMAN ATP-dependent DNA helicase DDX11 (sprot)


SLIK1_HUMAN SLIT and NTRK-like protein 1 (sprot)


SC5AC_HUMAN Sodium-coupled monocarboxylate transporter 2 (sprot)


HPLN1_HUMAN Hyaluronan and proteoglycan link protein 1 (sprot)


inherited fatty acid metabolism disorder


DRP2_HUMAN Dystrophin-related protein 2 (sprot)


CFA52_HUMAN Cilia- and flagella-associated protein 52 (sprot)


ADA2_HUMAN Adenosine deaminase 2 (sprot)


SP3_HUMAN Transcription factor Sp3 (sprot)


COLA1_HUMAN Collagen alpha-1(XXI) chain (sprot)


PABP1_HUMAN Polyadenylate-binding protein 1 (sprot)


PEMT_HUMAN Phosphatidylethanolamine N-methyltransferase (sprot)


RRP8_HUMAN Ribosomal RNA-processing protein 8 (sprot)


MRP9_HUMAN ATP-binding cassette sub-family C member 12 (sprot)


DUX4C_HUMAN Double homeobox protein 4C (sprot)


S41A3_HUMAN Solute carrier family 41 member 3 (sprot)


LYPA2_HUMAN Acyl-protein thioesterase 2 (sprot)


neurodegeneration with brain iron accumulation


congenital bilateral aplasia of vas deferens from CFTR mutation


VATD_HUMAN V-type proton ATPase subunit D (sprot)


PRLD2_HUMAN PRELI domain-containing protein 2 (sprot)


DHC24_HUMAN Delta(24)-sterol reductase (sprot)


LAMB3_HUMAN Laminin subunit beta-3 (sprot)


ALG3-congenital disorder of glycosylation


MBOA2_HUMAN Lysophospholipid acyltransferase 2 (sprot)


THAP2_HUMAN THAP domain-containing protein 2 (sprot)


ZDH16_HUMAN Palmitoyltransferase ZDHHC16 (sprot)


CHM2A_HUMAN Charged multivesicular body protein 2a (sprot)


S2611_HUMAN Sodium-independent sulfate anion transporter (sprot)


TSYL4_HUMAN Testis-specific Y-encoded-like protein 4 (sprot)


PACE1_HUMAN Protein-associating with the carboxyl-terminal domain of ezrin (sprot)


IKKB_HUMAN Inhibitor of nuclear factor kappa-B kinase subunit beta (sprot)


ZN582_HUMAN Zinc finger protein 582 (sprot)


VA0D2_HUMAN V-type proton ATPase subunit d 2 (sprot)


FLIP1_HUMAN Filamin-A-interacting protein 1 (sprot)


CE350_HUMAN Centrosome-associated protein 350 (sprot)


ZDH20_HUMAN Palmitoyltransferase ZDHHC20 (sprot)


LHX9_HUMAN LIM/homeobox protein Lhx9 (sprot)


CPT2_HUMAN Carnitine O-palmitoyltransferase 2, mitochondrial (sprot)


DIRC2_HUMAN Solute carrier family 49 member 4 (sprot)


PEX5R_HUMAN PEX5-related protein (sprot)


metaphyseal chondrodysplasia, Jansen type


TRPV1_HUMAN Transient receptor potential cation channel subfamily V member 1 (sprot)


KBTB6_HUMAN Kelch repeat and BTB domain-containing protein 6 (sprot)


TOM40_HUMAN Mitochondrial import receptor subunit TOM40 homolog (sprot)


GRCR1_HUMAN Glutaredoxin domain-containing cysteine-rich protein 1 (sprot)


TRPV2_HUMAN Transient receptor potential cation channel subfamily V member 2 (sprot)


LPIN2_HUMAN Phosphatidate phosphatase LPIN2 (sprot)


CCL22_HUMAN C-C motif chemokine 22 (sprot)


9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethylnona-2,4,6,8-tetraenoic acid ethyl ester


familial primary localized cutaneous amyloidosis


dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome


gastric neuroendocrine tumor, well differentiated, low or intermediate grade


CDC23_HUMAN Cell division cycle protein 23 homolog (sprot)


MPRD_HUMAN Cation-dependent mannose-6-phosphate receptor (sprot)


PR38B_HUMAN Pre-mRNA-splicing factor 38B (sprot)


MYADM_HUMAN Myeloid-associated differentiation marker (sprot)


RAB12_HUMAN Ras-related protein Rab-12 (sprot)


PNMT_HUMAN Phenylethanolamine N-methyltransferase (sprot)


TNR6C_HUMAN Trinucleotide repeat-containing gene 6C protein (sprot)


RARR2_HUMAN Retinoic acid receptor responder protein 2 (sprot)


DPPA2_HUMAN Developmental pluripotency-associated protein 2 (sprot)


NMT1_HUMAN Glycylpeptide N-tetradecanoyltransferase 1 (sprot)


MPZL1_HUMAN Myelin protein zero-like protein 1 (sprot)


blast phase chronic myelogenous leukemia, BCR-ABL1 positive


TXNL1_HUMAN Thioredoxin-like protein 1 (sprot)


MLRV_HUMAN Myosin regulatory light chain 2, ventricular/cardiac muscle isoform (sprot)


YTHD2_HUMAN YTH domain-containing family protein 2 (sprot)


UBP35_HUMAN Ubiquitin carboxyl-terminal hydrolase 35 (sprot)


PSA2_HUMAN Proteasome subunit alpha type-2 (sprot)


ENPP3_HUMAN Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (sprot)


ABCG4_HUMAN ATP-binding cassette sub-family G member 4 (sprot)


T2R40_HUMAN Taste receptor type 2 member 40 (sprot)


VPS36_HUMAN Vacuolar protein-sorting-associated protein 36 (sprot)


ACHG_HUMAN Acetylcholine receptor subunit gamma (sprot)


MFAP5_HUMAN Microfibrillar-associated protein 5 (sprot)


ZCH13_HUMAN Zinc finger CCHC domain-containing protein 13 (sprot)


ACD_HUMAN Adrenocortical dysplasia protein homolog (sprot)


ARNT_HUMAN Aryl hydrocarbon receptor nuclear translocator (sprot)


SC11C_HUMAN Signal peptidase complex catalytic subunit SEC11C (sprot)


solid pseudopapillary carcinoma of pancreas


FXYD3_HUMAN FXYD domain-containing ion transport regulator 3 (sprot)


MYT1L_HUMAN Myelin transcription factor 1-like protein (sprot)


MRP7_HUMAN ATP-binding cassette sub-family C member 10 (sprot)


KLH20_HUMAN Kelch-like protein 20 (sprot)


R144A_HUMAN E3 ubiquitin-protein ligase RNF144A (sprot)


OR1D2_HUMAN Olfactory receptor 1D2 (sprot)


RAB38_HUMAN Ras-related protein Rab-38 (sprot)


familial partial lipodystrophy, Dunnigan type


TSYL5_HUMAN Testis-specific Y-encoded-like protein 5 (sprot)


SRPK3_HUMAN SRSF protein kinase 3 (sprot)


SYCE1_HUMAN Synaptonemal complex central element protein 1 (sprot)


HERP1_HUMAN Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein (sprot)


GP176_HUMAN G-protein coupled receptor 176 (sprot)


WIPF1_HUMAN WAS/WASL-interacting protein family member 1 (sprot)


GP180_HUMAN Integral membrane protein GPR180 (sprot)


RINT1_HUMAN RAD50-interacting protein 1 (sprot)


MFSD1_HUMAN Major facilitator superfamily domain-containing protein 1 (sprot)


ST1A3_HUMAN Sulfotransferase 1A3 (sprot)


SHIP1_HUMAN Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 (sprot)


MADCA_HUMAN Mucosal addressin cell adhesion molecule 1 (sprot)


MEOX2_HUMAN Homeobox protein MOX-2 (sprot)


inherited susceptibility to mycobacterial diseases


CGAT1_HUMAN Chondroitin sulfate N-acetylgalactosaminyltransferase 1 (sprot)


RGS3_HUMAN Regulator of G-protein signaling 3 (sprot)


G6PT3_HUMAN Glucose-6-phosphate exchanger SLC37A2 (sprot)


ZN268_HUMAN Zinc finger protein 268 (sprot)


Bordetella pertussis filamentous hemagglutinin vaccine, inactivated


STYX_HUMAN Serine/threonine/tyrosine-interacting protein (sprot)


HYDIN_HUMAN Hydrocephalus-inducing protein homolog (sprot)


NPAS1_HUMAN Neuronal PAS domain-containing protein 1 (sprot)


B-cell childhood acute lymphoblastic leukemia


RM09_HUMAN 39S ribosomal protein L9, mitochondrial (sprot)


FBXL2_HUMAN F-box/LRR-repeat protein 2 (sprot)


PLAT1_HUMAN Phospholipase A and acyltransferase 1 (sprot)


GBG12_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 (sprot)


RSSA_HUMAN 40S ribosomal protein SA (sprot)


SOX2_HUMAN Transcription factor SOX-2 (sprot)


CNR2_HUMAN Cannabinoid receptor 2 (sprot)


MA1C1_HUMAN Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC (sprot)


RXRA_HUMAN Retinoic acid receptor RXR-alpha (sprot)


PAR6G_HUMAN Partitioning defective 6 homolog gamma (sprot)


PTPRC_HUMAN Receptor-type tyrosine-protein phosphatase C (sprot)


DMBX1_HUMAN Diencephalon/mesencephalon homeobox protein 1 (sprot)


1433E_HUMAN 14-3-3 protein epsilon (sprot)


I20RB_HUMAN Interleukin-20 receptor subunit beta (sprot)


RL35_HUMAN 60S ribosomal protein L35 (sprot)


LCE1F_HUMAN Late cornified envelope protein 1F (sprot)


SPC25_HUMAN Kinetochore protein Spc25 (sprot)


CXL13_HUMAN C-X-C motif chemokine 13 (sprot)


congenital merosin-deficient muscular dystrophy 1A


T229B_HUMAN Transmembrane protein 229B (sprot)


5NT1A_HUMAN Cytosolic 5'-nucleotidase 1A (sprot)


COMD3_HUMAN COMM domain-containing protein 3 (sprot)


SG11A_HUMAN Sperm-associated antigen 11A (sprot)


FNIP2_HUMAN Folliculin-interacting protein 2 (sprot)


ATS7_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 7 (sprot)


P33MX_HUMAN Putative monooxygenase p33MONOX (sprot)


CSAG2_HUMAN Chondrosarcoma-associated gene 2/3 protein (sprot)


hereditary leiomyomatosis and renal cell cancer


pyruvate carboxylase deficiency, severe neonatal type


CCNB3_HUMAN G2/mitotic-specific cyclin-B3 (sprot)


PDIA4_HUMAN Protein disulfide-isomerase A4 (sprot)


RNF26_HUMAN E3 ubiquitin-protein ligase RNF26 (sprot)


SDHB_HUMAN Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial (sprot)


ROCK2_HUMAN Rho-associated protein kinase 2 (sprot)


TPH2_HUMAN Tryptophan 5-hydroxylase 2 (sprot)


HS90B_HUMAN Heat shock protein HSP 90-beta (sprot)


TTF1_HUMAN Transcription termination factor 1 (sprot)


SYPL2_HUMAN Synaptophysin-like protein 2 (sprot)


GOGA7_HUMAN Golgin subfamily A member 7 (sprot)


SLIT2_HUMAN Slit homolog 2 protein (sprot)


RAB15_HUMAN Ras-related protein Rab-15 (sprot)


PABP2_HUMAN Polyadenylate-binding protein 2 (sprot)


COAC_HUMAN Phosphopantothenoylcysteine decarboxylase (sprot)


HDHD3_HUMAN Haloacid dehalogenase-like hydrolase domain-containing protein 3 (sprot)


MTR1L_HUMAN Melatonin-related receptor (sprot)


SIG14_HUMAN Sialic acid-binding Ig-like lectin 14 (sprot)


RN139_HUMAN E3 ubiquitin-protein ligase RNF139 (sprot)


NQO2_HUMAN Ribosyldihydronicotinamide dehydrogenase [quinone] (sprot)


LRAT_HUMAN Lecithin retinol acyltransferase (sprot)


K1C28_HUMAN Keratin, type I cytoskeletal 28 (sprot)


MGRN1_HUMAN E3 ubiquitin-protein ligase MGRN1 (sprot)


INHBA_HUMAN Inhibin beta A chain (sprot)


KCQ1D_HUMAN KCNQ1 downstream neighbor protein (sprot)


RB33A_HUMAN Ras-related protein Rab-33A (sprot)


GATA2 deficiency with susceptibility to MDS/AML


anterior cutaneous nerve entrapment syndrome


DLG1_HUMAN Disks large homolog 1 (sprot)


HGNAT_HUMAN Heparan-alpha-glucosaminide N-acetyltransferase (sprot)


TEC_HUMAN Tyrosine-protein kinase Tec (sprot)


CHID1_HUMAN Chitinase domain-containing protein 1 (sprot)


Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis


ANM9_HUMAN Protein arginine N-methyltransferase 9 (sprot)


S15A2_HUMAN Solute carrier family 15 member 2 (sprot)


MGT4A_HUMAN Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A (sprot)


GP152_HUMAN Probable G-protein coupled receptor 152 (sprot)


ERF_HUMAN ETS domain-containing transcription factor ERF (sprot)


MOB2_HUMAN MOB kinase activator 2 (sprot)


S35B2_HUMAN Adenosine 3'-phospho 5'-phosphosulfate transporter 1 (sprot)


FIZ1_HUMAN Flt3-interacting zinc finger protein 1 (sprot)


KLC3_HUMAN Kinesin light chain 3 (sprot)


GCYA2_HUMAN Guanylate cyclase soluble subunit alpha-2 (sprot)


TM154_HUMAN Transmembrane protein 154 (sprot)


AKAP3_HUMAN A-kinase anchor protein 3 (sprot)


BIRC7_HUMAN Baculoviral IAP repeat-containing protein 7 (sprot)


VAMP2_HUMAN Vesicle-associated membrane protein 2 (sprot)


PADI6_HUMAN Protein-arginine deiminase type-6 (sprot)


ZN131_HUMAN Zinc finger protein 131 (sprot)


DDX6_HUMAN Probable ATP-dependent RNA helicase DDX6 (sprot)


GPAT4_HUMAN Glycerol-3-phosphate acyltransferase 4 (sprot)


GPAT3_HUMAN Glycerol-3-phosphate acyltransferase 3 (sprot)


ETV2_HUMAN ETS translocation variant 2 (sprot)


ITK_HUMAN Tyrosine-protein kinase ITK/TSK (sprot)


NU160_HUMAN Nuclear pore complex protein Nup160 (sprot)


familial juvenile hyperuricemic nephropathy


WNK1_HUMAN Serine/threonine-protein kinase WNK1 (sprot)


MAFG_HUMAN Transcription factor MafG (sprot)


X-linked congenital stationary night blindness


RABP2_HUMAN Cellular retinoic acid-binding protein 2 (sprot)


LRRC1_HUMAN Leucine-rich repeat-containing protein 1 (sprot)


NHEJ1_HUMAN Non-homologous end-joining factor 1 (sprot)


NKG2A_HUMAN NKG2-A/NKG2-B type II integral membrane protein (sprot)


BRE1A_HUMAN E3 ubiquitin-protein ligase BRE1A (sprot)


CXAR_HUMAN Coxsackievirus and adenovirus receptor (sprot)


adnexal spiradenoma/cylindroma of a sweat gland


RL3L_HUMAN 60S ribosomal protein L3-like (sprot)


syndromic X-linked intellectual disability Hedera type


ACS2B_HUMAN Acyl-coenzyme A synthetase ACSM2B, mitochondrial (sprot)


OSBL6_HUMAN Oxysterol-binding protein-related protein 6 (sprot)


RBCC1_HUMAN RB1-inducible coiled-coil protein 1 (sprot)


OSBP2_HUMAN Oxysterol-binding protein 2 (sprot)


idiopathic malabsorption due to bile acid synthesis defects


E2F6_HUMAN Transcription factor E2F6 (sprot)


HXA5_HUMAN Homeobox protein Hox-A5 (sprot)


SAV1_HUMAN Protein salvador homolog 1 (sprot)


ATG9B_HUMAN Autophagy-related protein 9B (sprot)


AKA10_HUMAN A-kinase anchor protein 10, mitochondrial (sprot)


CHSTD_HUMAN Carbohydrate sulfotransferase 13 (sprot)


KBTB7_HUMAN Kelch repeat and BTB domain-containing protein 7 (sprot)


PCDGM_HUMAN Protocadherin gamma-C5 (sprot)


PHLP2_HUMAN PH domain leucine-rich repeat-containing protein phosphatase 2 (sprot)


TS1R1_HUMAN Taste receptor type 1 member 1 (sprot)


CDK16_HUMAN Cyclin-dependent kinase 16 (sprot)


PMFBP_HUMAN Polyamine-modulated factor 1-binding protein 1 (sprot)


CDX4_HUMAN Homeobox protein CDX-4 (sprot)


PTN12_HUMAN Tyrosine-protein phosphatase non-receptor type 12 (sprot)


MCM3_HUMAN DNA replication licensing factor MCM3 (sprot)


CYBR1_HUMAN Plasma membrane ascorbate-dependent reductase CYBRD1 (sprot)


RAB7L_HUMAN Ras-related protein Rab-7L1 (sprot)


HCAR2_HUMAN Hydroxycarboxylic acid receptor 2 (sprot)


UQCC2_HUMAN Ubiquinol-cytochrome-c reductase complex assembly factor 2 (sprot)


T2FA_HUMAN General transcription factor IIF subunit 1 (sprot)


autosomal dominant centronuclear myopathy


BRI3B_HUMAN BRI3-binding protein (sprot)


congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome


congenital bilateral absence of vas deferens


purine nucleoside phosphorylase deficiency


CXXC5_HUMAN CXXC-type zinc finger protein 5 (sprot)


FGGY_HUMAN FGGY carbohydrate kinase domain-containing protein (sprot)


MAP9_HUMAN Microtubule-associated protein 9 (sprot)


PK3CD_HUMAN Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform (sprot)


TEX26_HUMAN Testis-expressed protein 26 (sprot)


Charcot-Marie-Tooth disease axonal type 2L


S28A1_HUMAN Sodium/nucleoside cotransporter 1 (sprot)


RSPH3_HUMAN Radial spoke head protein 3 homolog (sprot)


ZCHC3_HUMAN Zinc finger CCHC domain-containing protein 3 (sprot)


CO5A3_HUMAN Collagen alpha-3(V) chain (sprot)


BACD2_HUMAN BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 (sprot)


ZC3H4_HUMAN Zinc finger CCCH domain-containing protein 4 (sprot)


REEP1_HUMAN Receptor expression-enhancing protein 1 (sprot)


TM134_HUMAN Transmembrane protein 134 (sprot)


RAMAC_HUMAN RNA guanine-N7 methyltransferase activating subunit (sprot)


R9BP_HUMAN Regulator of G-protein signaling 9-binding protein (sprot)


H2B1A_HUMAN Histone H2B type 1-A (sprot)


LNP_HUMAN Endoplasmic reticulum junction formation protein lunapark (sprot)


CNTD1_HUMAN Cyclin N-terminal domain-containing protein 1 (sprot)


CCSAP_HUMAN Centriole, cilia and spindle-associated protein (sprot)


RHOF_HUMAN Rho-related GTP-binding protein RhoF (sprot)


DUS29_HUMAN Dual specificity phosphatase 29 (sprot)


SCMC3_HUMAN Calcium-binding mitochondrial carrier protein SCaMC-3 (sprot)


primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma


LCE3C_HUMAN Late cornified envelope protein 3C (sprot)


PYGL_HUMAN Glycogen phosphorylase, liver form (sprot)


HDAC2_HUMAN Histone deacetylase 2 (sprot)


FGF16_HUMAN Fibroblast growth factor 16 (sprot)


CHD7_HUMAN Chromodomain-helicase-DNA-binding protein 7 (sprot)


ACHA9_HUMAN Neuronal acetylcholine receptor subunit alpha-9 (sprot)


OFD1_HUMAN Centriole and centriolar satellite protein OFD1 (sprot)


APBA2_HUMAN Amyloid-beta A4 precursor protein-binding family A member 2 (sprot)


ARMX2_HUMAN Armadillo repeat-containing X-linked protein 2 (sprot)


GA45G_HUMAN Growth arrest and DNA damage-inducible protein GADD45 gamma (sprot)


PDZ1I_HUMAN PDZK1-interacting protein 1 (sprot)


RL10_HUMAN 60S ribosomal protein L10 (sprot)


CD80_HUMAN T-lymphocyte activation antigen CD80 (sprot)


NDF6_HUMAN Neurogenic differentiation factor 6 (sprot)


methylmalonic aciduria and homocystinuria type cblC


CDN2B_HUMAN Cyclin-dependent kinase 4 inhibitor B (sprot)


MBL2_HUMAN Mannose-binding protein C (sprot)


TAF3_HUMAN Transcription initiation factor TFIID subunit 3 (sprot)


P53_HUMAN Cellular tumor antigen p53 (sprot)


SLAI2_HUMAN SLAIN motif-containing protein 2 (sprot)


childhood central nervous system germ cell tumor


autosomal recessive epidermolytic ichthyosis


NXF2_HUMAN Nuclear RNA export factor 2 (sprot)


severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion


UD15_HUMAN UDP-glucuronosyltransferase 1A5 (sprot)


FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 (sprot)


SPICE_HUMAN Spindle and centriole-associated protein 1 (sprot)


ERGI3_HUMAN Endoplasmic reticulum-Golgi intermediate compartment protein 3 (sprot)


RAB6C_HUMAN Ras-related protein Rab-6C (sprot)


ARL1_HUMAN ADP-ribosylation factor-like protein 1 (sprot)


LR14B_HUMAN Leucine-rich repeat-containing protein 14B (sprot)


GGT2_HUMAN Inactive glutathione hydrolase 2 (sprot)


TNNI1_HUMAN Troponin I, slow skeletal muscle (sprot)


AT2A2_HUMAN Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (sprot)


FUBP3_HUMAN Far upstream element-binding protein 3 (sprot)


S27A1_HUMAN Long-chain fatty acid transport protein 1 (sprot)


PICAL_HUMAN Phosphatidylinositol-binding clathrin assembly protein (sprot)


KDM5B_HUMAN Lysine-specific demethylase 5B (sprot)


FUT2_HUMAN Galactoside alpha-(1,2)-fucosyltransferase 2 (sprot)


MAGA3_HUMAN Melanoma-associated antigen 3 (sprot)


MDS2_HUMAN Myelodysplastic syndrome 2 translocation-associated protein (sprot)