ISOC2_HUMAN Isochorismatase domain-containing protein 2 (sprot)


LSP1_HUMAN Lymphocyte-specific protein 1 (sprot)


DSN1_HUMAN Kinetochore-associated protein DSN1 homolog (sprot)


GLYC_HUMAN Serine hydroxymethyltransferase, cytosolic (sprot)


RA51B_HUMAN DNA repair protein RAD51 homolog 2 (sprot)


TRI49_HUMAN Tripartite motif-containing protein 49 (sprot)


SPAT2_HUMAN Spermatogenesis-associated protein 2 (sprot)


S39A5_HUMAN Zinc transporter ZIP5 (sprot)


GBB4_HUMAN Guanine nucleotide-binding protein subunit beta-4 (sprot)


chlamydia trachomatis infectious disease


TMG4_HUMAN Transmembrane gamma-carboxyglutamic acid protein 4 (sprot)


AMER3_HUMAN APC membrane recruitment protein 3 (sprot)


NOSIP_HUMAN Nitric oxide synthase-interacting protein (sprot)


KCIP1_HUMAN Kv channel-interacting protein 1 (sprot)


ARG33_HUMAN Rho guanine nucleotide exchange factor 33 (sprot)


KCNH2_HUMAN Potassium voltage-gated channel subfamily H member 2 (sprot)


hennekam lymphangiectasia-lymphedema syndrome 3


CKLF1_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 1 (sprot)


ATS12_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 12 (sprot)


EPT1_HUMAN Ethanolaminephosphotransferase 1 (sprot)


ATNG_HUMAN Sodium/potassium-transporting ATPase subunit gamma (sprot)


syndromic X-linked intellectual disability Siderius type


NTAN1_HUMAN Protein N-terminal asparagine amidohydrolase (sprot)


polyarticular juvenile idiopathic arthritis


Hodgkin's lymphoma, lymphocytic depletion


LN28B_HUMAN Protein lin-28 homolog B (sprot)


KRA55_HUMAN Keratin-associated protein 5-5 (sprot)


TBC9B_HUMAN TBC1 domain family member 9B (sprot)


ERF1_HUMAN Eukaryotic peptide chain release factor subunit 1 (sprot)


SMUF1_HUMAN E3 ubiquitin-protein ligase SMURF1 (sprot)


BRD9_HUMAN Bromodomain-containing protein 9 (sprot)


inherited glutathione synthetase deficiency


PTPRE_HUMAN Receptor-type tyrosine-protein phosphatase epsilon (sprot)


CCSE1_HUMAN Serine-rich coiled-coil domain-containing protein 1 (sprot)


CH10_HUMAN 10 kDa heat shock protein, mitochondrial (sprot)


RFFL_HUMAN E3 ubiquitin-protein ligase rififylin (sprot)


autosomal recessive centronuclear myopathy


RFX2_HUMAN DNA-binding protein RFX2 (sprot)


SRPK1_HUMAN SRSF protein kinase 1 (sprot)


NCF1_HUMAN Neutrophil cytosol factor 1 (sprot)


Paecilomyces variotii allergenic extract


CXCL2_HUMAN C-X-C motif chemokine 2 (sprot)


CAHM1_HUMAN Calcium homeostasis modulator protein 1 (sprot)


PLPL5_HUMAN Patatin-like phospholipase domain-containing protein 5 (sprot)


BTF3_HUMAN Transcription factor BTF3 (sprot)


LHX2_HUMAN LIM/homeobox protein Lhx2 (sprot)


CXCL7_HUMAN Platelet basic protein (sprot)


DLK2_HUMAN Protein delta homolog 2 (sprot)


salivary gland carcinoma ex pleomorphic adenoma


DLX6_HUMAN Homeobox protein DLX-6 (sprot)


MFS4B_HUMAN Sodium-dependent glucose transporter 1 (sprot)


THA11_HUMAN THAP domain-containing protein 11 (sprot)


SHB_HUMAN SH2 domain-containing adapter protein B (sprot)


DOXA1_HUMAN Dual oxidase maturation factor 1 (sprot)


short stature-wormian bones-dextrocardia syndrome


TIM8B_HUMAN Mitochondrial import inner membrane translocase subunit Tim8 B (sprot)


PDLI3_HUMAN PDZ and LIM domain protein 3 (sprot)


MCU_HUMAN Calcium uniporter protein, mitochondrial (sprot)


RTL4_HUMAN Retrotransposon Gag-like protein 4 (sprot)


solid pseudopapillary neoplasm of the pancreas


MLXPL_HUMAN Carbohydrate-responsive element-binding protein (sprot)


CP46A_HUMAN Cholesterol 24-hydroxylase (sprot)


ATPF1_HUMAN ATP synthase mitochondrial F1 complex assembly factor 1 (sprot)


CBX4_HUMAN E3 SUMO-protein ligase CBX4 (sprot)


COQA1_HUMAN Collagen alpha-1(XXVI) chain (sprot)


DAA11_HUMAN Dynein axonemal assembly factor 11 (sprot)


DUS26_HUMAN Dual specificity protein phosphatase 26 (sprot)


STRAB_HUMAN STE20-related kinase adapter protein beta (sprot)


FGF18_HUMAN Fibroblast growth factor 18 (sprot)


PSD1_HUMAN PH and SEC7 domain-containing protein 1 (sprot)


MFAP3_HUMAN Microfibril-associated glycoprotein 3 (sprot)


SO1C1_HUMAN Solute carrier organic anion transporter family member 1C1 (sprot)


SFR19_HUMAN Splicing factor, arginine/serine-rich 19 (sprot)


OPSX_HUMAN Visual pigment-like receptor peropsin (sprot)


UBE3C_HUMAN Ubiquitin-protein ligase E3C (sprot)


ELAP2_HUMAN Endosome/lysosome-associated apoptosis and autophagy regulator family member 2 (sprot)


CREL1_HUMAN Protein disulfide isomerase CRELD1 (sprot)


SENP8_HUMAN Sentrin-specific protease 8 (sprot)


TIM22_HUMAN Mitochondrial import inner membrane translocase subunit Tim22 (sprot)


MOB1A_HUMAN MOB kinase activator 1A (sprot)


RL17_HUMAN 60S ribosomal protein L17 (sprot)


FMNL1_HUMAN Formin-like protein 1 (sprot)


respiratory syncytial virus infectious disease


ATG4A_HUMAN Cysteine protease ATG4A (sprot)


PANK1_HUMAN Pantothenate kinase 1 (sprot)


NOS3_HUMAN Nitric oxide synthase, endothelial (sprot)


BRWD1_HUMAN Bromodomain and WD repeat-containing protein 1 (sprot)


ATG4C_HUMAN Cysteine protease ATG4C (sprot)


PCDP1_HUMAN Cilia- and flagella-associated protein 221 (sprot)


ZNF23_HUMAN Zinc finger protein 23 (sprot)


PI3R5_HUMAN Phosphoinositide 3-kinase regulatory subunit 5 (sprot)


SH3R2_HUMAN E3 ubiquitin-protein ligase SH3RF2 (sprot)


CDN1C_HUMAN Cyclin-dependent kinase inhibitor 1C (sprot)


RFC3_HUMAN Replication factor C subunit 3 (sprot)


TCAF1_HUMAN TRPM8 channel-associated factor 1 (sprot)


ADH1G_HUMAN Alcohol dehydrogenase 1C (sprot)


SPTB2_HUMAN Spectrin beta chain, non-erythrocytic 1 (sprot)


5HT5A_HUMAN 5-hydroxytryptamine receptor 5A (sprot)


STK25_HUMAN Serine/threonine-protein kinase 25 (sprot)


ACSL3_HUMAN Fatty acid CoA ligase Acsl3 (sprot)


OMGP_HUMAN Oligodendrocyte-myelin glycoprotein (sprot)


PP2BA_HUMAN Protein phosphatase 3 catalytic subunit alpha (sprot)


FHR1_HUMAN Complement factor H-related protein 1 (sprot)


RAB7A_HUMAN Ras-related protein Rab-7a (sprot)


CXXC1_HUMAN CXXC-type zinc finger protein 1 (sprot)


COX7C_HUMAN Cytochrome c oxidase subunit 7C, mitochondrial (sprot)


SLBP_HUMAN Histone RNA hairpin-binding protein (sprot)


CSK_HUMAN Tyrosine-protein kinase CSK (sprot)


ZC12A_HUMAN Endoribonuclease ZC3H12A (sprot)


UTP4_HUMAN U3 small nucleolar RNA-associated protein 4 homolog (sprot)


C5AR2_HUMAN C5a anaphylatoxin chemotactic receptor 2 (sprot)


CD1A_HUMAN T-cell surface glycoprotein CD1a (sprot)


P3IP1_HUMAN Phosphoinositide-3-kinase-interacting protein 1 (sprot)


SRGP2_HUMAN SLIT-ROBO Rho GTPase-activating protein 2 (sprot)


M3K13_HUMAN Mitogen-activated protein kinase kinase kinase 13 (sprot)


ectodermal dysplasia-syndactyly syndrome 1


T2R41_HUMAN Taste receptor type 2 member 41 (sprot)


EPAS1_HUMAN Endothelial PAS domain-containing protein 1 (sprot)


SH2B1_HUMAN SH2B adapter protein 1 (sprot)


PDCL3_HUMAN Phosducin-like protein 3 (sprot)


MESP2_HUMAN Mesoderm posterior protein 2 (sprot)


ZSWM6_HUMAN Zinc finger SWIM domain-containing protein 6 (sprot)


PEX1_HUMAN Peroxisome biogenesis factor 1 (sprot)


WDR74_HUMAN WD repeat-containing protein 74 (sprot)


KCC2G_HUMAN Calcium/calmodulin-dependent protein kinase type II subunit gamma (sprot)


DOC10_HUMAN Dedicator of cytokinesis protein 10 (sprot)


TYPH_HUMAN Thymidine phosphorylase (sprot)


FAK2_HUMAN Protein-tyrosine kinase 2-beta (sprot)


CCR8_HUMAN C-C chemokine receptor type 8 (sprot)


GSK3A_HUMAN Glycogen synthase kinase-3 alpha (sprot)


PKRI1_HUMAN PRKR-interacting protein 1 (sprot)


GBGT2_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 (sprot)


PE2R3_HUMAN Prostaglandin E2 receptor EP3 subtype (sprot)


KIF1A_HUMAN Kinesin-like protein KIF1A (sprot)


CIDEA_HUMAN Cell death activator CIDE-A (sprot)


NAC2_HUMAN Sodium/calcium exchanger 2 (sprot)


CNTP4_HUMAN Contactin-associated protein-like 4 (sprot)


NR4A3_HUMAN Nuclear receptor subfamily 4 group A member 3 (sprot)


congenital anomaly of kidney and urinary tract


RGL3_HUMAN Ral guanine nucleotide dissociation stimulator-like 3 (sprot)


SAM14_HUMAN Sterile alpha motif domain-containing protein 14 (sprot)


ARHGP_HUMAN Rho guanine nucleotide exchange factor 25 (sprot)


DCSTP_HUMAN Dendritic cell-specific transmembrane protein (sprot)


VRK1_HUMAN Serine/threonine-protein kinase VRK1 (sprot)


TNR3_HUMAN Tumor necrosis factor receptor superfamily member 3 (sprot)


SEC20_HUMAN Vesicle transport protein SEC20 (sprot)


TGFB3_HUMAN Transforming growth factor beta-3 proprotein (sprot)


FUZZY_HUMAN Protein fuzzy homolog (sprot)


RPKL1_HUMAN Ribosomal protein S6 kinase-like 1 (sprot)


PDE6D_HUMAN Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta (sprot)


AN18B_HUMAN Ankyrin repeat domain-containing protein 18B (sprot)


FADS1_HUMAN Acyl-CoA (8-3)-desaturase (sprot)


TF65_HUMAN Transcription factor p65 (sprot)


MB3L2_HUMAN Methyl-CpG-binding domain protein 3-like 2 (sprot)


ACSM3_HUMAN Acyl-coenzyme A synthetase ACSM3, mitochondrial (sprot)


BIN2_HUMAN Bridging integrator 2 (sprot)


MEIG1_HUMAN Meiosis expressed gene 1 protein homolog (sprot)


TMM11_HUMAN Transmembrane protein 11, mitochondrial (sprot)


P52K_HUMAN 52 kDa repressor of the inhibitor of the protein kinase (sprot)


RBBP7_HUMAN Histone-binding protein RBBP7 (sprot)


BI2L1_HUMAN Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 (sprot)


CD3Z_HUMAN T-cell surface glycoprotein CD3 zeta chain (sprot)


ZMYM1_HUMAN Zinc finger MYM-type protein 1 (sprot)


HOGA1_HUMAN 4-hydroxy-2-oxoglutarate aldolase, mitochondrial (sprot)


OSGL1_HUMAN tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial (sprot)


GCSAM_HUMAN Germinal center-associated signaling and motility protein (sprot)


TNR1A_HUMAN Tumor necrosis factor receptor superfamily member 1A (sprot)


GTR8_HUMAN Solute carrier family 2, facilitated glucose transporter member 8 (sprot)


VAMP7_HUMAN Vesicle-associated membrane protein 7 (sprot)


SCAP_HUMAN Sterol regulatory element-binding protein cleavage-activating protein (sprot)


M18BP_HUMAN Mis18-binding protein 1 (sprot)


MECOM_HUMAN Histone-lysine N-methyltransferase MECOM (sprot)


UB2G2_HUMAN Ubiquitin-conjugating enzyme E2 G2 (sprot)


GANAB_HUMAN Neutral alpha-glucosidase AB (sprot)


FBW10_HUMAN F-box/WD repeat-containing protein 10 (sprot)


COX7B_HUMAN Cytochrome c oxidase subunit 7B, mitochondrial (sprot)


B4GT7_HUMAN Beta-1,4-galactosyltransferase 7 (sprot)


SRGP3_HUMAN SLIT-ROBO Rho GTPase-activating protein 3 (sprot)


HTRA2_HUMAN Serine protease HTRA2, mitochondrial (sprot)


PIM3_HUMAN Serine/threonine-protein kinase pim-3 (sprot)


MYO1A_HUMAN Unconventional myosin-Ia (sprot)


systemic-onset juvenile idiopathic arthritis


IL12B_HUMAN Interleukin-12 subunit beta (sprot)


BLVRB_HUMAN Flavin reductase (NADPH) (sprot)


DMRTB_HUMAN Doublesex- and mab-3-related transcription factor B1 (sprot)


MTNB_HUMAN Methylthioribulose-1-phosphate dehydratase (sprot)


NUSAP_HUMAN Nucleolar and spindle-associated protein 1 (sprot)


KAD1_HUMAN Adenylate kinase isoenzyme 1 (sprot)


MYO1B_HUMAN Unconventional myosin-Ib (sprot)


posterior polymorphous corneal dystrophy 3


LYSM3_HUMAN LysM and putative peptidoglycan-binding domain-containing protein 3 (sprot)


SP110_HUMAN Sp110 nuclear body protein (sprot)


HECD3_HUMAN E3 ubiquitin-protein ligase HECTD3 (sprot)


MAT2B_HUMAN Methionine adenosyltransferase 2 subunit beta (sprot)


KDM2A_HUMAN Lysine-specific demethylase 2A (sprot)


NC2A_HUMAN Dr1-associated corepressor (sprot)


O10A2_HUMAN Olfactory receptor 10A2 (sprot)


FOXI2_HUMAN Forkhead box protein I2 (sprot)


INP4A_HUMAN Inositol polyphosphate-4-phosphatase type I A (sprot)


SUIS_HUMAN Sucrase-isomaltase, intestinal (sprot)


RFXAP_HUMAN Regulatory factor X-associated protein (sprot)


TOMT_HUMAN Transmembrane O-methyltransferase (sprot)


UB2J1_HUMAN Ubiquitin-conjugating enzyme E2 J1 (sprot)


FBX15_HUMAN F-box only protein 15 (sprot)


LIRA3_HUMAN Leukocyte immunoglobulin-like receptor subfamily A member 3 (sprot)


TMM75_HUMAN Putative protein encoded by LINC02912 (sprot)


DAPP1_HUMAN Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide (sprot)


TBX1_HUMAN T-box transcription factor TBX1 (sprot)


PUR4_HUMAN Phosphoribosylformylglycinamidine synthase (sprot)


KRR1_HUMAN KRR1 small subunit processome component homolog (sprot)


CTSR4_HUMAN Cation channel sperm-associated protein 4 (sprot)


AP3B1_HUMAN AP-3 complex subunit beta-1 (sprot)


ROA0_HUMAN Heterogeneous nuclear ribonucleoprotein A0 (sprot)


CAMLG_HUMAN Guided entry of tail-anchored proteins factor CAMLG (sprot)


TMM72_HUMAN Transmembrane protein 72 (sprot)


DPP3_HUMAN Dipeptidyl peptidase 3 (sprot)


CRYM_HUMAN Ketimine reductase mu-crystallin (sprot)


relapsed/refractory diffuse large B-cell lymphoma


vaccinia virus strain New York City Board of Health live antigen


SUSD3_HUMAN Sushi domain-containing protein 3 (sprot)


periodic fever, immunodeficiency, and thrombocytopenia syndrome


PM2P2_HUMAN Putative postmeiotic segregation increased 2-like protein 2 (sprot)


UBE2K_HUMAN Ubiquitin-conjugating enzyme E2 K (sprot)


SPEB_HUMAN Agmatinase, mitochondrial (sprot)


STML1_HUMAN Stomatin-like protein 1 (sprot)


DPM3_HUMAN Dolichol-phosphate mannosyltransferase subunit 3 (sprot)


KANK3_HUMAN KN motif and ankyrin repeat domain-containing protein 3 (sprot)


SYDM_HUMAN Aspartate--tRNA ligase, mitochondrial (sprot)


MYCBP_HUMAN c-Myc-binding protein (sprot)


RHBD3_HUMAN Rhomboid domain-containing protein 3 (sprot)


ATS4_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 4 (sprot)


ADAM8_HUMAN Disintegrin and metalloproteinase domain-containing protein 8 (sprot)


congenital dyserythropoietic anemia type 3


rapidly involuting congenital hemangioma


UTF1_HUMAN Undifferentiated embryonic cell transcription factor 1 (sprot)


S2543_HUMAN Solute carrier family 25 member 43 (sprot)


RPP29_HUMAN Ribonuclease P protein subunit p29 (sprot)


ULK4_HUMAN Serine/threonine-protein kinase ULK4 (sprot)


NUD12_HUMAN NAD-capped RNA hydrolase NUDT12 (sprot)


SOX12_HUMAN Transcription factor SOX-12 (sprot)


B3GN6_HUMAN Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase (sprot)


BHE40_HUMAN Class E basic helix-loop-helix protein 40 (sprot)


familial male-limited precocious puberty


BBS4_HUMAN Bardet-Biedl syndrome 4 protein (sprot)


CB39L_HUMAN Calcium-binding protein 39-like (sprot)


S2544_HUMAN Solute carrier family 25 member 44 (sprot)


CLM5_HUMAN CMRF35-like molecule 5 (sprot)


CLIP4_HUMAN CAP-Gly domain-containing linker protein 4 (sprot)


EMP1_HUMAN Epithelial membrane protein 1 (sprot)


bladder inflammatory myofibroblastic tumor


ASCC1_HUMAN Activating signal cointegrator 1 complex subunit 1 (sprot)


intellectual disability, autosomal dominant 5


generalized dominant dystrophic epidermolysis bullosa


GSTA4_HUMAN Glutathione S-transferase A4 (sprot)


GABP1_HUMAN GA-binding protein subunit beta-1 (sprot)


SP6_HUMAN Transcription factor Sp6 (sprot)


XRCC3_HUMAN DNA repair protein XRCC3 (sprot)


TNR6A_HUMAN Trinucleotide repeat-containing gene 6A protein (sprot)


YYAP1_HUMAN YY1-associated protein 1 (sprot)


ASB16_HUMAN Ankyrin repeat and SOCS box protein 16 (sprot)


KLH25_HUMAN Kelch-like protein 25 (sprot)


K2C79_HUMAN Keratin, type II cytoskeletal 79 (sprot)


TMIG2_HUMAN Transmembrane and immunoglobulin domain-containing protein 2 (sprot)


F210B_HUMAN Protein FAM210B, mitochondrial (sprot)


TA2R1_HUMAN Taste receptor type 2 member 1 (sprot)


TEF_HUMAN Thyrotroph embryonic factor (sprot)


KS6A2_HUMAN Ribosomal protein S6 kinase alpha-2 (sprot)


ECI1_HUMAN Enoyl-CoA delta isomerase 1, mitochondrial (sprot)


NQO1_HUMAN NAD(P)H dehydrogenase [quinone] 1 (sprot)


HOP_HUMAN Homeodomain-only protein (sprot)


combined pituitary hormone deficiencies, genetic form


HES3_HUMAN Transcription factor HES-3 (sprot)


LRC19_HUMAN Leucine-rich repeat-containing protein 19 (sprot)


DNER_HUMAN Delta and Notch-like epidermal growth factor-related receptor (sprot)


NUP98_HUMAN Nuclear pore complex protein Nup98-Nup96 (sprot)


TAC2N_HUMAN Tandem C2 domains nuclear protein (sprot)


CDHR5_HUMAN Cadherin-related family member 5 (sprot)


RS16_HUMAN 40S ribosomal protein S16 (sprot)


attenuated familial adenomatous polyposis


GBA3_HUMAN Cytosolic beta-glucosidase (sprot)


RMND1_HUMAN Required for meiotic nuclear division protein 1 homolog (sprot)


NOP58_HUMAN Nucleolar protein 58 (sprot)


neurometabolic disorder due to serine deficiency


PCDGG_HUMAN Protocadherin gamma-B4 (sprot)


SOX4_HUMAN Transcription factor SOX-4 (sprot)


ARP6_HUMAN Actin-related protein 6 (sprot)


infantile-onset ascending hereditary spastic paralysis


IQEC3_HUMAN IQ motif and SEC7 domain-containing protein 3 (sprot)


DAW1_HUMAN Dynein assembly factor with WDR repeat domains 1 (sprot)


PTN11_HUMAN Tyrosine-protein phosphatase non-receptor type 11 (sprot)


GIPR_HUMAN Gastric inhibitory polypeptide receptor (sprot)


CCDC7_HUMAN Coiled-coil domain-containing protein 7 (sprot)


MAEL_HUMAN Protein maelstrom homolog (sprot)


E2AK4_HUMAN eIF-2-alpha kinase GCN2 (sprot)


TXD15_HUMAN Thioredoxin domain-containing protein 15 (sprot)


GLRX5_HUMAN Glutaredoxin-related protein 5, mitochondrial (sprot)


ASCL2_HUMAN Achaete-scute homolog 2 (sprot)


T23O_HUMAN Tryptophan 2,3-dioxygenase (sprot)


SMBT1_HUMAN Scm-like with four MBT domains protein 1 (sprot)


IAPP_HUMAN Islet amyloid polypeptide (sprot)


CRIM1_HUMAN Cysteine-rich motor neuron 1 protein (sprot)


SCFD1_HUMAN Sec1 family domain-containing protein 1 (sprot)


pure or complex hereditary spastic paraplegia


NNRE_HUMAN NAD(P)H-hydrate epimerase (sprot)


ARMX1_HUMAN Armadillo repeat-containing X-linked protein 1 (sprot)


Disproportionate short-trunk short stature


SPEM1_HUMAN Spermatid maturation protein 1 (sprot)


EF1B_HUMAN Elongation factor 1-beta (sprot)


CENPX_HUMAN Centromere protein X (sprot)


IKKA_HUMAN Inhibitor of nuclear factor kappa-B kinase subunit alpha (sprot)


EFGM_HUMAN Elongation factor G, mitochondrial (sprot)


NDF2_HUMAN Neurogenic differentiation factor 2 (sprot)


GABPA_HUMAN GA-binding protein alpha chain (sprot)


S27A5_HUMAN Long-chain fatty acid transport protein 5 (sprot)


SLMAP_HUMAN Sarcolemmal membrane-associated protein (sprot)


KDM4E_HUMAN Lysine-specific demethylase 4E (sprot)


IF172_HUMAN Intraflagellar transport protein 172 homolog (sprot)


TRI29_HUMAN Tripartite motif-containing protein 29 (sprot)


GNDS_HUMAN Ral guanine nucleotide dissociation stimulator (sprot)


NBPFC_HUMAN Neuroblastoma breakpoint family member 12 (sprot)


SSU72_HUMAN RNA polymerase II subunit A C-terminal domain phosphatase SSU72 (sprot)


HLF_HUMAN Hepatic leukemia factor (sprot)


TCPW_HUMAN T-complex protein 1 subunit zeta-2 (sprot)


HUNK_HUMAN Hormonally up-regulated neu tumor-associated kinase (sprot)


interstitial granulomatous dermatitis with arthritis


severe dermatitis-multiple allergies-metabolic wasting syndrome


RPP30_HUMAN Ribonuclease P protein subunit p30 (sprot)


FERM2_HUMAN Fermitin family homolog 2 (sprot)


IOD2_HUMAN Type II iodothyronine deiodinase (sprot)


TTL_HUMAN Tubulin--tyrosine ligase (sprot)


VAV3_HUMAN Guanine nucleotide exchange factor VAV3 (sprot)


UCHL3_HUMAN Ubiquitin carboxyl-terminal hydrolase isozyme L3 (sprot)


JMJD4_HUMAN 2-oxoglutarate and iron-dependent oxygenase JMJD4 (sprot)


NKX25_HUMAN Homeobox protein Nkx-2.5 (sprot)


TNR17_HUMAN Tumor necrosis factor receptor superfamily member 17 (sprot)


well-differentiated fetal adenocarcinoma of the lung


COEA1_HUMAN Collagen alpha-1(XIV) chain (sprot)


PPM1A_HUMAN Protein phosphatase 1A (sprot)


ALG11-congenital disorder of glycosylation


EPS15_HUMAN Epidermal growth factor receptor substrate 15 (sprot)


OSBL8_HUMAN Oxysterol-binding protein-related protein 8 (sprot)


BPNT1_HUMAN 3'(2'),5'-bisphosphate nucleotidase 1 (sprot)


TIE2_HUMAN Angiopoietin-1 receptor (sprot)


congenital generalized lipodystrophy type 3


FCRL5_HUMAN Fc receptor-like protein 5 (sprot)


TRPC5_HUMAN Short transient receptor potential channel 5 (sprot)


HDAC4_HUMAN Histone deacetylase 4 (sprot)


MTMRC_HUMAN Myotubularin-related protein 12 (sprot)


GLT17_HUMAN Polypeptide N-acetylgalactosaminyltransferase 17 (sprot)


RFIP1_HUMAN Rab11 family-interacting protein 1 (sprot)


MMAA_HUMAN Methylmalonic aciduria type A protein, mitochondrial (sprot)


OXSM_HUMAN 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial (sprot)


TKTL2_HUMAN Transketolase-like protein 2 (sprot)


CDC27_HUMAN Cell division cycle protein 27 homolog (sprot)


PAL4A_HUMAN Peptidyl-prolyl cis-trans isomerase A-like 4A (sprot)


KLH13_HUMAN Kelch-like protein 13 (sprot)


OTUD3_HUMAN OTU domain-containing protein 3 (sprot)


MYL1_HUMAN Myosin light chain 1/3, skeletal muscle isoform (sprot)


IN80D_HUMAN INO80 complex subunit D (sprot)


VCAM1_HUMAN Vascular cell adhesion protein 1 (sprot)


SLIK4_HUMAN SLIT and NTRK-like protein 4 (sprot)


HECD2_HUMAN Probable E3 ubiquitin-protein ligase HECTD2 (sprot)


MAAI_HUMAN Maleylacetoacetate isomerase (sprot)


NTH_HUMAN Endonuclease III-like protein 1 (sprot)


DSCR8_HUMAN Down syndrome critical region protein 8 (sprot)


TRA2B_HUMAN Transformer-2 protein homolog beta (sprot)


PZP_HUMAN Pregnancy zone protein (sprot)


spondylometaphyseal dysplasia, Sedaghatian type


DNAL1_HUMAN Dynein axonemal light chain 1 (sprot)


LATS1_HUMAN Serine/threonine-protein kinase LATS1 (sprot)


GLCE_HUMAN D-glucuronyl C5-epimerase (sprot)


LANC1_HUMAN Glutathione S-transferase LANCL1 (sprot)


SRRM1_HUMAN Serine/arginine repetitive matrix protein 1 (sprot)


hypertrophic osteoarthropathy, primary, autosomal recessive, 2


DC1I2_HUMAN Cytoplasmic dynein 1 intermediate chain 2 (sprot)


ENTP5_HUMAN Nucleoside diphosphate phosphatase ENTPD5 (sprot)


MRGX4_HUMAN Mas-related G-protein coupled receptor member X4 (sprot)


AT2A1_HUMAN Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (sprot)


frontotemporal dementia with motor neuron disease


RIN1_HUMAN Ras and Rab interactor 1 (sprot)


NFIC_HUMAN Nuclear factor 1 C-type (sprot)


URP2_HUMAN Fermitin family homolog 3 (sprot)


AJUBA_HUMAN LIM domain-containing protein ajuba (sprot)


IFIH1_HUMAN Interferon-induced helicase C domain-containing protein 1 (sprot)


MORN2_HUMAN MORN repeat-containing protein 2 (sprot)


AP1B1_HUMAN AP-1 complex subunit beta-1 (sprot)


short stature-brachydactyly-obesity-global developmental delay syndrome


CWC25_HUMAN Pre-mRNA-splicing factor CWC25 homolog (sprot)


TGM5_HUMAN Protein-glutamine gamma-glutamyltransferase 5 (sprot)


AK1C1_HUMAN Aldo-keto reductase family 1 member C1 (sprot)


VPS39_HUMAN Vam6/Vps39-like protein (sprot)


PRS8_HUMAN 26S proteasome regulatory subunit 8 (sprot)


KIF14_HUMAN Kinesin-like protein KIF14 (sprot)


CTDS2_HUMAN Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 (sprot)


SF3A2_HUMAN Splicing factor 3A subunit 2 (sprot)


BMP2K_HUMAN BMP-2-inducible protein kinase (sprot)


HSP76_HUMAN Heat shock 70 kDa protein 6 (sprot)


FOXM1_HUMAN Forkhead box protein M1 (sprot)


BAG6_HUMAN Large proline-rich protein BAG6 (sprot)


ERMP1_HUMAN Endoplasmic reticulum metallopeptidase 1 (sprot)


SLN13_HUMAN Schlafen family member 13 (sprot)


GNRR2_HUMAN Putative gonadotropin-releasing hormone II receptor (sprot)


CHFR_HUMAN E3 ubiquitin-protein ligase CHFR (sprot)


TPIS_HUMAN Triosephosphate isomerase (sprot)


TGFB2_HUMAN Transforming growth factor beta-2 proprotein (sprot)


DPF3_HUMAN Zinc finger protein DPF3 (sprot)


WNK4_HUMAN Serine/threonine-protein kinase WNK4 (sprot)


HXA10_HUMAN Homeobox protein Hox-A10 (sprot)


eosinophilic granulomatosis with polyangiitis


MOT3_HUMAN Monocarboxylate transporter 3 (sprot)


congenital fiber-type disproportion myopathy


CFA53_HUMAN Cilia- and flagella-associated protein 53 (sprot)


PAIP1_HUMAN Polyadenylate-binding protein-interacting protein 1 (sprot)


SAR1A_HUMAN GTP-binding protein SAR1a (sprot)


IRF9_HUMAN Interferon regulatory factor 9 (sprot)


PSMD3_HUMAN 26S proteasome non-ATPase regulatory subunit 3 (sprot)


CABP4_HUMAN Calcium-binding protein 4 (sprot)


IASPP_HUMAN RelA-associated inhibitor (sprot)


TCAM2_HUMAN TIR domain-containing adapter molecule 2 (sprot)


PRB2_HUMAN Basic salivary proline-rich protein 2 (sprot)


YKT6_HUMAN Synaptobrevin homolog YKT6 (sprot)


ELP6_HUMAN Elongator complex protein 6 (sprot)


HBEGF_HUMAN Proheparin-binding EGF-like growth factor (sprot)


RTP4_HUMAN Receptor-transporting protein 4 (sprot)


RAB3C_HUMAN Ras-related protein Rab-3C (sprot)


MYEOV_HUMAN Myeloma-overexpressed gene protein (sprot)


HSPB9_HUMAN Heat shock protein beta-9 (sprot)


brachydactyly-elbow wrist dysplasia syndrome


DMRT2_HUMAN Doublesex- and mab-3-related transcription factor 2 (sprot)


TLE4_HUMAN Transducin-like enhancer protein 4 (sprot)


OTOP1_HUMAN Proton channel OTOP1 (sprot)


IGLO5_HUMAN IgLON family member 5 (sprot)


NDUAA_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial (sprot)


UB2L6_HUMAN Ubiquitin/ISG15-conjugating enzyme E2 L6 (sprot)


mitochondrial trifunctional protein deficiency


TBCD9_HUMAN TBC1 domain family member 9 (sprot)


SH2B2_HUMAN SH2B adapter protein 2 (sprot)


partially involuting congenital hemangioma


TCAL8_HUMAN Transcription elongation factor A protein-like 8 (sprot)


TAFA4_HUMAN Chemokine-like protein TAFA-4 (sprot)


CD2AP_HUMAN CD2-associated protein (sprot)


NDUB3_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 (sprot)


ULBP3_HUMAN UL16-binding protein 3 (sprot)


NACC1_HUMAN Nucleus accumbens-associated protein 1 (sprot)


PLPL4_HUMAN Patatin-like phospholipase domain-containing protein 4 (sprot)


NPT2B_HUMAN Sodium-dependent phosphate transport protein 2B (sprot)


COPD_HUMAN Coatomer subunit delta (sprot)


S22A5_HUMAN Solute carrier family 22 member 5 (sprot)


RBMS1_HUMAN RNA-binding motif, single-stranded-interacting protein 1 (sprot)


RLA1_HUMAN 60S acidic ribosomal protein P1 (sprot)


pyruvate dehydrogenase phosphatase deficiency


Morphological abnormality of the vestibule of the inner ear


SCO2_HUMAN Protein SCO2 homolog, mitochondrial (sprot)


ENPP7_HUMAN Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 (sprot)


UB2R1_HUMAN Ubiquitin-conjugating enzyme E2 R1 (sprot)


CNCG_HUMAN Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (sprot)


epidermolysis bullosa simplex 1C, localized


ITF2_HUMAN Transcription factor 4 (sprot)


CNGA4_HUMAN Cyclic nucleotide-gated cation channel alpha-4 (sprot)


ZMYM3_HUMAN Zinc finger MYM-type protein 3 (sprot)


HERC3_HUMAN Probable E3 ubiquitin-protein ligase HERC3 (sprot)


CIB1_HUMAN Calcium and integrin-binding protein 1 (sprot)


CNPY4_HUMAN Protein canopy homolog 4 (sprot)


RIR1_HUMAN Ribonucleoside-diphosphate reductase large subunit (sprot)


MYO15_HUMAN Unconventional myosin-XV (sprot)


SERHL_HUMAN Serine hydrolase-like protein (sprot)


CLK3_HUMAN Dual specificity protein kinase CLK3 (sprot)


IKZF3_HUMAN Zinc finger protein Aiolos (sprot)


VENTX_HUMAN Homeobox protein VENTX (sprot)


TRXR3_HUMAN Thioredoxin reductase 3 (sprot)


neurodevelopmental disorder with involuntary movements


STAT6_HUMAN Signal transducer and activator of transcription 6 (sprot)


RT30_HUMAN 39S ribosomal protein S30, mitochondrial (sprot)


CRLF2_HUMAN Cytokine receptor-like factor 2 (sprot)


NLRX1_HUMAN NLR family member X1 (sprot)


SETD5_HUMAN Histone-lysine N-methyltransferase SETD5 (sprot)


RMD2_HUMAN Regulator of microtubule dynamics protein 2 (sprot)


KIF2B_HUMAN Kinesin-like protein KIF2B (sprot)


TBB4A_HUMAN Tubulin beta-4A chain (sprot)


TRI63_HUMAN E3 ubiquitin-protein ligase TRIM63 (sprot)


CFTR_HUMAN Cystic fibrosis transmembrane conductance regulator (sprot)


GATA_HUMAN Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial (sprot)


UBE2O_HUMAN (E3-independent) E2 ubiquitin-conjugating enzyme (sprot)


Rab GTPase-activating protein 1-like, isoform 10 (human)


AT12A_HUMAN Potassium-transporting ATPase alpha chain 2 (sprot)


LRRT4_HUMAN Leucine-rich repeat transmembrane neuronal protein 4 (sprot)


cerebral arteriopathy with subcortical infarcts and leukoencephalopathy


X-linked dominant hypophosphatemic rickets


PRA12_HUMAN PRAME family member 12 (sprot)


CAR11_HUMAN Caspase recruitment domain-containing protein 11 (sprot)


well differentiated papillary mesothelioma


RIT1_HUMAN GTP-binding protein Rit1 (sprot)


TAF10_HUMAN Transcription initiation factor TFIID subunit 10 (sprot)


AAKB2_HUMAN 5'-AMP-activated protein kinase subunit beta-2 (sprot)


ATP4A_HUMAN Potassium-transporting ATPase alpha chain 1 (sprot)


CRLD2_HUMAN Cysteine-rich secretory protein LCCL domain-containing 2 (sprot)


VP13D_HUMAN Intermembrane lipid transfer protein VPS13D (sprot)


TRI35_HUMAN E3 ubiquitin-protein ligase TRIM35 (sprot)


INSM1_HUMAN Insulinoma-associated protein 1 (sprot)


LIRB5_HUMAN Leukocyte immunoglobulin-like receptor subfamily B member 5 (sprot)


PSB2_HUMAN Proteasome subunit beta type-2 (sprot)


MED11_HUMAN Mediator of RNA polymerase II transcription subunit 11 (sprot)


DDX27_HUMAN Probable ATP-dependent RNA helicase DDX27 (sprot)


LAP4B_HUMAN Lysosomal-associated transmembrane protein 4B (sprot)


LIN37_HUMAN Protein lin-37 homolog (sprot)


OR1G1_HUMAN Olfactory receptor 1G1 (sprot)


STAT3_HUMAN Signal transducer and activator of transcription 3 (sprot)


ELOV3_HUMAN Elongation of very long chain fatty acids protein 3 (sprot)


RHEB_HUMAN GTP-binding protein Rheb (sprot)


TM198_HUMAN Transmembrane protein 198 (sprot)


ST38L_HUMAN Serine/threonine-protein kinase 38-like (sprot)


HOME3_HUMAN Homer protein homolog 3 (sprot)


MK06_HUMAN Mitogen-activated protein kinase 6 (sprot)


TAF12_HUMAN Transcription initiation factor TFIID subunit 12 (sprot)


BORG2_HUMAN Cdc42 effector protein 3 (sprot)


GNT2A_HUMAN N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase (sprot)


TRI60_HUMAN Tripartite motif-containing protein 60 (sprot)


PE2R2_HUMAN Prostaglandin E2 receptor EP2 subtype (sprot)


BUB3_HUMAN Mitotic checkpoint protein BUB3 (sprot)


GPCP1_HUMAN Glycerophosphocholine phosphodiesterase GPCPD1 (sprot)


LRRN3_HUMAN Leucine-rich repeat neuronal protein 3 (sprot)


KI3S1_HUMAN Killer cell immunoglobulin-like receptor 3DS1 (sprot)


CMBL_HUMAN Carboxymethylenebutenolidase homolog (sprot)


pineal parenchymal tumor of intermediate differentiation


KLHL2_HUMAN Kelch-like protein 2 (sprot)


GOG6B_HUMAN Golgin subfamily A member 6B (sprot)


GNA15_HUMAN Guanine nucleotide-binding protein subunit alpha-15 (sprot)


CRDL2_HUMAN Chordin-like protein 2 (sprot)


PTPA_HUMAN Serine/threonine-protein phosphatase 2A activator (sprot)


COOA1_HUMAN Collagen alpha-1(XXIV) chain (sprot)


CLH1_HUMAN Clathrin heavy chain 1 (sprot)


CNKR1_HUMAN Connector enhancer of kinase suppressor of ras 1 (sprot)


KPRA_HUMAN Phosphoribosyl pyrophosphate synthase-associated protein 1 (sprot)


GALT5_HUMAN Polypeptide N-acetylgalactosaminyltransferase 5 (sprot)


enthesitis-related juvenile idiopathic arthritis


OPRK_HUMAN Kappa-type opioid receptor (sprot)


GALT2_HUMAN Polypeptide N-acetylgalactosaminyltransferase 2 (sprot)


NR1D2_HUMAN Nuclear receptor subfamily 1 group D member 2 (sprot)


UCMA_HUMAN Unique cartilage matrix-associated protein (sprot)


CDC20_HUMAN Cell division cycle protein 20 homolog (sprot)


PLAC8_HUMAN Placenta-specific gene 8 protein (sprot)


PDK1_HUMAN [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial (sprot)


SHC3_HUMAN SHC-transforming protein 3 (sprot)


SL9B2_HUMAN Sodium/hydrogen exchanger 9B2 (sprot)


CFA20_HUMAN Cilia- and flagella-associated protein 20 (sprot)


short chain acyl-CoA dehydrogenase deficiency


DDAH1_HUMAN N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 (sprot)


ERCC5_HUMAN DNA excision repair protein ERCC-5 (sprot)


CABP1_HUMAN Calcium-binding protein 1 (sprot)


HUS1_HUMAN Checkpoint protein HUS1 (sprot)


NLRC4_HUMAN NLR family CARD domain-containing protein 4 (sprot)


NOTC4_HUMAN Neurogenic locus notch homolog protein 4 (sprot)


HXD13_HUMAN Homeobox protein Hox-D13 (sprot)


KRA99_HUMAN Keratin-associated protein 9-9 (sprot)


MYCPP_HUMAN C-myc promoter-binding protein (sprot)


ZNF76_HUMAN Zinc finger protein 76 (sprot)


central nervous system infectious disorder


GHC2_HUMAN Mitochondrial glutamate carrier 2 (sprot)


TFE3_HUMAN Transcription factor E3 (sprot)


RN216_HUMAN E3 ubiquitin-protein ligase RNF216 (sprot)


TFEB_HUMAN Transcription factor EB (sprot)


TAB2_HUMAN TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 (sprot)


PTN6_HUMAN Tyrosine-protein phosphatase non-receptor type 6 (sprot)


MMP9_HUMAN Matrix metalloproteinase-9 (sprot)


MYT1_HUMAN Myelin transcription factor 1 (sprot)


RPAB2_HUMAN DNA-directed RNA polymerases I, II, and III subunit RPABC2 (sprot)


NEUL_HUMAN Neurolysin, mitochondrial (sprot)


TRHDE_HUMAN Thyrotropin-releasing hormone-degrading ectoenzyme (sprot)


SAMD3_HUMAN Sterile alpha motif domain-containing protein 3 (sprot)


EGF_HUMAN Pro-epidermal growth factor (sprot)


OAS2_HUMAN 2'-5'-oligoadenylate synthase 2 (sprot)


HASP_HUMAN Serine/threonine-protein kinase haspin (sprot)


PLTP_HUMAN Phospholipid transfer protein (sprot)


ANR54_HUMAN Ankyrin repeat domain-containing protein 54 (sprot)


ATPA_HUMAN ATP synthase subunit alpha, mitochondrial (sprot)


TMM68_HUMAN Transmembrane protein 68 (sprot)


ACKR2_HUMAN Atypical chemokine receptor 2 (sprot)


PTN14_HUMAN Tyrosine-protein phosphatase non-receptor type 14 (sprot)


ectodermal dysplasia and immune deficiency


KBTB4_HUMAN Kelch repeat and BTB domain-containing protein 4 (sprot)


Trichophyton tonsurans allergenic extract


CLP1_HUMAN Polyribonucleotide 5'-hydroxyl-kinase Clp1 (sprot)


HSPB1_HUMAN Heat shock protein beta-1 (sprot)


AKAP1_HUMAN A-kinase anchor protein 1, mitochondrial (sprot)


LONP2_HUMAN Lon protease homolog 2, peroxisomal (sprot)


PTAFR_HUMAN Platelet-activating factor receptor (sprot)


OSTF1_HUMAN Osteoclast-stimulating factor 1 (sprot)


MCHR1_HUMAN Melanin-concentrating hormone receptor 1 (sprot)


AGAP3_HUMAN Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 (sprot)


DUS14_HUMAN Dual specificity protein phosphatase 14 (sprot)


ZFAN5_HUMAN AN1-type zinc finger protein 5 (sprot)


ST1C4_HUMAN Sulfotransferase 1C4 (sprot)


qualitative or quantitative defects of gamma-sarcoglycan


ABCA7_HUMAN Phospholipid-transporting ATPase ABCA7 (sprot)


glycogen storage disease due to lactate dehydrogenase M-subunit deficiency


Ambras type hypertrichosis universalis congenita


MTFP1_HUMAN Mitochondrial fission process protein 1 (sprot)


OTUD1_HUMAN OTU domain-containing protein 1 (sprot)


CRNL1_HUMAN Crooked neck-like protein 1 (sprot)


BRPF3_HUMAN Bromodomain and PHD finger-containing protein 3 (sprot)


MPP4_HUMAN MAGUK p55 subfamily member 4 (sprot)


GCM1_HUMAN Chorion-specific transcription factor GCMa (sprot)


WASF3_HUMAN Actin-binding protein WASF3 (sprot)


SRRT_HUMAN Serrate RNA effector molecule homolog (sprot)


EPOR_HUMAN Erythropoietin receptor (sprot)


RHG18_HUMAN Rho GTPase-activating protein 18 (sprot)


SERB_HUMAN Phosphoserine phosphatase (sprot)


SLAI1_HUMAN SLAIN motif-containing protein 1 (sprot)


LMO7_HUMAN LIM domain only protein 7 (sprot)


GFOD2_HUMAN Glucose-fructose oxidoreductase domain-containing protein 2 (sprot)


CNRG_HUMAN Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (sprot)


NF2L3_HUMAN Nuclear factor erythroid 2-related factor 3 (sprot)


SOX10_HUMAN Transcription factor SOX-10 (sprot)


FA7_HUMAN Coagulation factor VII (sprot)


S2538_HUMAN Mitochondrial glycine transporter (sprot)


GLIS3_HUMAN Zinc finger protein GLIS3 (sprot)


ALK-positive anaplastic large cell lymphoma


K2C4_HUMAN Keratin, type II cytoskeletal 4 (sprot)


ZBTB3_HUMAN Zinc finger and BTB domain-containing protein 3 (sprot)


hemolytic anemia due to glucophosphate isomerase deficiency


S12A7_HUMAN Solute carrier family 12 member 7 (sprot)


PINK1_HUMAN Serine/threonine-protein kinase PINK1, mitochondrial (sprot)


DOC2A_HUMAN Double C2-like domain-containing protein alpha (sprot)


epithelioid malignant peripheral nerve sheath tumor


FNTA_HUMAN Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha (sprot)


MOBP_HUMAN Myelin-associated oligodendrocyte basic protein (sprot)


myelodysplastic syndrome associated with isolated del(5q)


Pelizaeus-Merzbacher disease, transitional form


PRB4_HUMAN Basic salivary proline-rich protein 4 (sprot)


TSTD1_HUMAN Thiosulfate:glutathione sulfurtransferase (sprot)


DGKB_HUMAN Diacylglycerol kinase beta (sprot)


DEN4C_HUMAN DENN domain-containing protein 4C (sprot)


NR2C2_HUMAN Nuclear receptor subfamily 2 group C member 2 (sprot)


PNO1_HUMAN RNA-binding protein PNO1 (sprot)


KCC1D_HUMAN Calcium/calmodulin-dependent protein kinase type 1D (sprot)


CNNM2_HUMAN Metal transporter CNNM2 (sprot)


RPC1_HUMAN DNA-directed RNA polymerase III subunit RPC1 (sprot)


PAR14_HUMAN Protein mono-ADP-ribosyltransferase PARP14 (sprot)


ESM1_HUMAN Endothelial cell-specific molecule 1 (sprot)


NUD15_HUMAN Nucleotide triphosphate diphosphatase NUDT15 (sprot)


NDUB1_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 (sprot)


MCM2_HUMAN DNA replication licensing factor MCM2 (sprot)


TRI18_HUMAN E3 ubiquitin-protein ligase Midline-1 (sprot)


PEX2_HUMAN Peroxisome biogenesis factor 2 (sprot)


TDG_HUMAN G/T mismatch-specific thymine DNA glycosylase (sprot)


GP171_HUMAN G-protein coupled receptor 171 (sprot)


CDN1B_HUMAN Cyclin-dependent kinase inhibitor 1B (sprot)


PGES2_HUMAN Prostaglandin E synthase 2 (sprot)


KCNS1_HUMAN Potassium voltage-gated channel subfamily S member 1 (sprot)


CCG2_HUMAN Voltage-dependent calcium channel gamma-2 subunit (sprot)


DPOG1_HUMAN DNA polymerase subunit gamma-1 (sprot)


LBR_HUMAN Delta(14)-sterol reductase LBR (sprot)


SRPRB_HUMAN Signal recognition particle receptor subunit beta (sprot)


TMCC3_HUMAN Transmembrane and coiled-coil domain protein 3 (sprot)


KCNK1_HUMAN Potassium channel subfamily K member 1 (sprot)


CHAP1_HUMAN Chromosome alignment-maintaining phosphoprotein 1 (sprot)


RN138_HUMAN E3 ubiquitin-protein ligase RNF138 (sprot)


Ehlers-Danlos syndrome, periodontitis type


DNJC4_HUMAN DnaJ homolog subfamily C member 4 (sprot)


ZFYV1_HUMAN Zinc finger FYVE domain-containing protein 1 (sprot)


GALR2_HUMAN Galanin receptor type 2 (sprot)


SOLH1_HUMAN Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 (sprot)


EIF3M_HUMAN Eukaryotic translation initiation factor 3 subunit M (sprot)


ACD10_HUMAN Acyl-CoA dehydrogenase family member 10 (sprot)


CC88B_HUMAN Coiled-coil domain-containing protein 88B (sprot)


ANGL4_HUMAN Angiopoietin-related protein 4 (sprot)


VATL_HUMAN V-type proton ATPase 16 kDa proteolipid subunit c (sprot)


GATM_HUMAN Glycine amidinotransferase, mitochondrial (sprot)


MAPK5_HUMAN MAP kinase-activated protein kinase 5 (sprot)


SSH2_HUMAN Protein phosphatase Slingshot homolog 2 (sprot)


XIAP_HUMAN E3 ubiquitin-protein ligase XIAP (sprot)


encephalopathy due to mitochondrial and peroxisomal fission defect


THUM3_HUMAN tRNA (guanine(6)-N2)-methyltransferase THUMP3 (sprot)


COXM1_HUMAN COX assembly mitochondrial protein homolog (sprot)


LRC17_HUMAN Leucine-rich repeat-containing protein 17 (sprot)


SC31A_HUMAN Protein transport protein Sec31A (sprot)


S19A3_HUMAN Thiamine transporter 2 (sprot)


CMTA1_HUMAN Calmodulin-binding transcription activator 1 (sprot)


GLYL1_HUMAN Glycine N-acyltransferase-like protein 1 (sprot)


FCHO1_HUMAN F-BAR domain only protein 1 (sprot)


MOFA1_HUMAN MORF4 family-associated protein 1 (sprot)


duodenal neuroendocrine tumor, well differentiated, low or intermediate grade


PLVAP_HUMAN Plasmalemma vesicle-associated protein (sprot)


VP13A_HUMAN Intermembrane lipid transfer protein VPS13A (sprot)


TRI47_HUMAN E3 ubiquitin-protein ligase TRIM47 (sprot)


KHDR1_HUMAN KH domain-containing, RNA-binding, signal transduction-associated protein 1 (sprot)


SPNS2_HUMAN Sphingosine-1-phosphate transporter SPNS2 (sprot)


RB_HUMAN Retinoblastoma-associated protein (sprot)


HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 (sprot)


LRIG3_HUMAN Leucine-rich repeats and immunoglobulin-like domains protein 3 (sprot)


SCRT1_HUMAN Transcriptional repressor scratch 1 (sprot)


COIA1_HUMAN Collagen alpha-1(XVIII) chain (sprot)


RGS19_HUMAN Regulator of G-protein signaling 19 (sprot)


NMRL1_HUMAN NmrA-like family domain-containing protein 1 (sprot)


DXO_HUMAN Decapping and exoribonuclease protein (sprot)


amyotrophic lateral sclerosis type 2, juvenile


TUT4_HUMAN Terminal uridylyltransferase 4 (sprot)


BTBDA_HUMAN BTB/POZ domain-containing protein 10 (sprot)


REEP2_HUMAN Receptor expression-enhancing protein 2 (sprot)


GPR78_HUMAN G-protein coupled receptor 78 (sprot)


GLYM_HUMAN Serine hydroxymethyltransferase, mitochondrial (sprot)


DZIP1_HUMAN Cilium assembly protein DZIP1 (sprot)


PACN1_HUMAN Protein kinase C and casein kinase substrate in neurons protein 1 (sprot)


RGL2_HUMAN Ral guanine nucleotide dissociation stimulator-like 2 (sprot)


YLAT2_HUMAN Y+L amino acid transporter 2 (sprot)


TBKB1_HUMAN TANK-binding kinase 1-binding protein 1 (sprot)


colorectal cancer, hereditary nonpolyposis, type 2


RPR1B_HUMAN Regulation of nuclear pre-mRNA domain-containing protein 1B (sprot)


K1C14_HUMAN Keratin, type I cytoskeletal 14 (sprot)


FBXL6_HUMAN F-box/LRR-repeat protein 6 (sprot)


RNAS2_HUMAN Non-secretory ribonuclease (sprot)


ARAP3_HUMAN Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3 (sprot)


CD5_HUMAN T-cell surface glycoprotein CD5 (sprot)


LCE3D_HUMAN Late cornified envelope protein 3D (sprot)


progressive familial intrahepatic cholestasis type 2


CLIP2_HUMAN CAP-Gly domain-containing linker protein 2 (sprot)


ETV1_HUMAN ETS translocation variant 1 (sprot)


LRC49_HUMAN Leucine-rich repeat-containing protein 49 (sprot)


V1BR_HUMAN Vasopressin V1b receptor (sprot)


PIGG_HUMAN GPI ethanolamine phosphate transferase 2 (sprot)


KI18A_HUMAN Kinesin-like protein KIF18A (sprot)


CEAM8_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 8 (sprot)


PBX4_HUMAN Pre-B-cell leukemia transcription factor 4 (sprot)


ELMD2_HUMAN ELMO domain-containing protein 2 (sprot)


DEND3_HUMAN DENN domain-containing protein 3 (sprot)


KCTD6_HUMAN BTB/POZ domain-containing protein KCTD6 (sprot)


GALT9_HUMAN Polypeptide N-acetylgalactosaminyltransferase 9 (sprot)


AT135_HUMAN Probable cation-transporting ATPase 13A5 (sprot)


BAAT_HUMAN Bile acid-CoA:amino acid N-acyltransferase (sprot)


H1BP3_HUMAN HCLS1-binding protein 3 (sprot)


PAR11_HUMAN Protein mono-ADP-ribosyltransferase PARP11 (sprot)


DNAI1_HUMAN Dynein axonemal intermediate chain 1 (sprot)


KCMA1_HUMAN Calcium-activated potassium channel subunit alpha-1 (sprot)


extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor


PSA3_HUMAN Proteasome subunit alpha type-3 (sprot)


ZFAN3_HUMAN AN1-type zinc finger protein 3 (sprot)


MAFK_HUMAN Transcription factor MafK (sprot)


MDGA1_HUMAN MAM domain-containing glycosylphosphatidylinositol anchor protein 1 (sprot)


hereditary papillary renal cell carcinoma


PAHX_HUMAN Phytanoyl-CoA dioxygenase, peroxisomal (sprot)


RUXF_HUMAN Small nuclear ribonucleoprotein F (sprot)


PAPD1_HUMAN Poly(A) RNA polymerase, mitochondrial (sprot)


GPSM2_HUMAN G-protein-signaling modulator 2 (sprot)


STXB3_HUMAN Syntaxin-binding protein 3 (sprot)


CIR1_HUMAN Corepressor interacting with RBPJ 1 (sprot)


SLF1_HUMAN SMC5-SMC6 complex localization factor protein 1 (sprot)


ABL2_HUMAN Tyrosine-protein kinase ABL2 (sprot)


CRYAB_HUMAN Alpha-crystallin B chain (sprot)


TCRGL_HUMAN Transcription elongation regulator 1-like protein (sprot)


BUD31_HUMAN Protein BUD31 homolog (sprot)


NRG4_HUMAN Pro-neuregulin-4, membrane-bound isoform (sprot)


P121A_HUMAN Nuclear envelope pore membrane protein POM 121 (sprot)


TFCP2_HUMAN Alpha-globin transcription factor CP2 (sprot)


S35E1_HUMAN Solute carrier family 35 member E1 (sprot)


KDM2B_HUMAN Lysine-specific demethylase 2B (sprot)


autosomal dominant nocturnal frontal lobe epilepsy


IFT74_HUMAN Intraflagellar transport protein 74 homolog (sprot)


GCP60_HUMAN Golgi resident protein GCP60 (sprot)


2A5E_HUMAN Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform (sprot)


RRF2M_HUMAN Ribosome-releasing factor 2, mitochondrial (sprot)


KDM7A_HUMAN Lysine-specific demethylase 7A (sprot)


NPTXR_HUMAN Neuronal pentraxin receptor (sprot)


CCD15_HUMAN Coiled-coil domain-containing protein 15 (sprot)


MGST1_HUMAN Microsomal glutathione S-transferase 1 (sprot)


LAMA2_HUMAN Laminin subunit alpha-2 (sprot)


ODR4_HUMAN Protein odr-4 homolog (sprot)


Ehlers-Danlos syndrome, arthrochalasis type


DHX57_HUMAN Putative ATP-dependent RNA helicase DHX57 (sprot)


obesity due to melanocortin 4 receptor deficiency


KS6A1_HUMAN Ribosomal protein S6 kinase alpha-1 (sprot)


ALAT2_HUMAN Alanine aminotransferase 2 (sprot)


GRP1_HUMAN RAS guanyl-releasing protein 1 (sprot)


APC_HUMAN Adenomatous polyposis coli protein (sprot)


IL1AP_HUMAN Interleukin-1 receptor accessory protein (sprot)


LAR1B_HUMAN La-related protein 1B (sprot)


I22R1_HUMAN Interleukin-22 receptor subunit alpha-1 (sprot)


CABP2_HUMAN Calcium-binding protein 2 (sprot)


CAPAM_HUMAN mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase (sprot)


LRFN5_HUMAN Leucine-rich repeat and fibronectin type-III domain-containing protein 5 (sprot)


NDUA4_HUMAN Cytochrome c oxidase subunit NDUFA4 (sprot)


GALT6_HUMAN Polypeptide N-acetylgalactosaminyltransferase 6 (sprot)


NFYC_HUMAN Nuclear transcription factor Y subunit gamma (sprot)


AIMP1_HUMAN Aminoacyl tRNA synthase complex-interacting multifunctional protein 1 (sprot)


SGMR2_HUMAN Sigma intracellular receptor 2 (sprot)


BC11A_HUMAN B-cell lymphoma/leukemia 11A (sprot)


HAKAI_HUMAN E3 ubiquitin-protein ligase Hakai (sprot)


FABD_HUMAN Malonyl-CoA-acyl carrier protein transacylase, mitochondrial (sprot)


ADPRH_HUMAN ADP-ribosylhydrolase ARH1 (sprot)


PRDM2_HUMAN PR domain zinc finger protein 2 (sprot)


I12R2_HUMAN Interleukin-12 receptor subunit beta-2 (sprot)


GLRX2_HUMAN Glutaredoxin-2, mitochondrial (sprot)


NAF1_HUMAN H/ACA ribonucleoprotein complex non-core subunit NAF1 (sprot)


CO2A1_HUMAN Collagen alpha-1(II) chain (sprot)


TPIP1_HUMAN p53-regulated apoptosis-inducing protein 1 (sprot)


PRCC_HUMAN Proline-rich protein PRCC (sprot)


O2AG2_HUMAN Olfactory receptor 2AG2 (sprot)


AMPE_HUMAN Glutamyl aminopeptidase (sprot)


SF3A1_HUMAN Splicing factor 3A subunit 1 (sprot)


KCTD1_HUMAN BTB/POZ domain-containing protein KCTD1 (sprot)


syndromic X-linked intellectual disability Snyder type


L-Alanine, N-(2'-C-methyl-6-O-methyl-P-1-naphthalenyl-5'-guanylyl)-, 2,2-dimethylpropyl ester


GSTM5_HUMAN Glutathione S-transferase Mu 5 (sprot)


PLPP4_HUMAN Phospholipid phosphatase 4 (sprot)


NTM1A_HUMAN N-terminal Xaa-Pro-Lys N-methyltransferase 1 (sprot)


small intestinal neuroendocrine tumor G1


RXRG_HUMAN Retinoic acid receptor RXR-gamma (sprot)


CCND3_HUMAN G1/S-specific cyclin-D3 (sprot)


M3K1_HUMAN Mitogen-activated protein kinase kinase kinase 1 (sprot)


PHF23_HUMAN PHD finger protein 23 (sprot)


FLII_HUMAN Protein flightless-1 homolog (sprot)


PEDF_HUMAN Pigment epithelium-derived factor (sprot)


NOD1_HUMAN Nucleotide-binding oligomerization domain-containing protein 1 (sprot)


SET1A_HUMAN Histone-lysine N-methyltransferase SETD1A (sprot)


CD14_HUMAN Monocyte differentiation antigen CD14 (sprot)


GFRA1_HUMAN GDNF family receptor alpha-1 (sprot)


MYO7A_HUMAN Unconventional myosin-VIIa (sprot)


LHX4_HUMAN LIM/homeobox protein Lhx4 (sprot)


CCD69_HUMAN Coiled-coil domain-containing protein 69 (sprot)


RHBL4_HUMAN Rhomboid-related protein 4 (sprot)


ROM1_HUMAN Rod outer segment membrane protein 1 (sprot)


PARN_HUMAN Poly(A)-specific ribonuclease PARN (sprot)


ZN541_HUMAN Zinc finger protein 541 (sprot)


UNC4_HUMAN Homeobox protein unc-4 homolog (sprot)


cerebellar ataxia, intellectual disability, and dysequilibrium


SC6A9_HUMAN Sodium- and chloride-dependent glycine transporter 1 (sprot)


CLMP_HUMAN CXADR-like membrane protein (sprot)


MDM2_HUMAN E3 ubiquitin-protein ligase Mdm2 (sprot)


TSHB_HUMAN Thyrotropin subunit beta (sprot)


LUZP2_HUMAN Leucine zipper protein 2 (sprot)


CCL26_HUMAN C-C motif chemokine 26 (sprot)


HMGN5_HUMAN High mobility group nucleosome-binding domain-containing protein 5 (sprot)


TCF25_HUMAN Transcription factor 25 (sprot)


Cyclopropanecarboxylic acid, 1-hydroxy-2,2,6,6-tetramethyl-4-piperidinyl ester


ADT2_HUMAN ADP/ATP translocase 2 (sprot)


GNA1_HUMAN Glucosamine 6-phosphate N-acetyltransferase (sprot)


VEGFA_HUMAN Vascular endothelial growth factor A (sprot)


DHX35_HUMAN Probable ATP-dependent RNA helicase DHX35 (sprot)


MAGF1_HUMAN Melanoma-associated antigen F1 (sprot)


F215A_HUMAN Uncharacterized protein FAM215A (sprot)


DPOE3_HUMAN DNA polymerase epsilon subunit 3 (sprot)


NCKX5_HUMAN Sodium/potassium/calcium exchanger 5 (sprot)


TRI44_HUMAN Tripartite motif-containing protein 44 (sprot)


TSPO gene translation product isoform PBR-S (human)


GCP4_HUMAN Gamma-tubulin complex component 4 (sprot)


GRIK1_HUMAN Glutamate receptor ionotropic, kainate 1 (sprot)


EMC2_HUMAN ER membrane protein complex subunit 2 (sprot)


NTF2_HUMAN Nuclear transport factor 2 (sprot)


RIPK1_HUMAN Receptor-interacting serine/threonine-protein kinase 1 (sprot)


ADH1B_HUMAN All-trans-retinol dehydrogenase [NAD(+)] ADH1B (sprot)


CONA1_HUMAN Collagen alpha-1(XXIII) chain (sprot)


SAS6_HUMAN Spindle assembly abnormal protein 6 homolog (sprot)


NGF_HUMAN Beta-nerve growth factor (sprot)


COX3_HUMAN Cytochrome c oxidase subunit 3 (sprot)


UBX11_HUMAN UBX domain-containing protein 11 (sprot)


SRGEF_HUMAN Secretion-regulating guanine nucleotide exchange factor (sprot)


IRS1_HUMAN Insulin receptor substrate 1 (sprot)


MPZL2_HUMAN Myelin protein zero-like protein 2 (sprot)


RHDF2_HUMAN Inactive rhomboid protein 2 (sprot)


HECW2_HUMAN E3 ubiquitin-protein ligase HECW2 (sprot)


S22AE_HUMAN Solute carrier family 22 member 14 (sprot)


STYK1_HUMAN Tyrosine-protein kinase STYK1 (sprot)


familial thoracic aortic aneurysm and aortic dissection


CD36_HUMAN Platelet glycoprotein 4 (sprot)


RGS9_HUMAN Regulator of G-protein signaling 9 (sprot)


PGH2_HUMAN Prostaglandin G/H synthase 2 (sprot)


RORA_HUMAN Nuclear receptor ROR-alpha (sprot)


CR1_HUMAN Complement receptor type 1 (sprot)


REV1_HUMAN DNA repair protein REV1 (sprot)


MC4R_HUMAN Melanocortin receptor 4 (sprot)


KLD8A_HUMAN Kelch domain-containing protein 8A (sprot)


K2C78_HUMAN Keratin, type II cytoskeletal 78 (sprot)


RN180_HUMAN E3 ubiquitin-protein ligase RNF180 (sprot)


1H-Imidazole-5-carboxylic acid, 1-((1R)-1-phenylethyl)-, 1-(methoxycarbonyl)cyclopropyl ester


THG1_HUMAN Probable tRNA(His) guanylyltransferase (sprot)


TEX14_HUMAN Inactive serine/threonine-protein kinase TEX14 (sprot)


HXC5_HUMAN Homeobox protein Hox-C5 (sprot)


SO4C1_HUMAN Solute carrier organic anion transporter family member 4C1 (sprot)


EGFL7_HUMAN Epidermal growth factor-like protein 7 (sprot)


NUD11_HUMAN Diphosphoinositol polyphosphate phosphohydrolase 3-beta (sprot)


OLIG1_HUMAN Oligodendrocyte transcription factor 1 (sprot)


BMAL1_HUMAN Aryl hydrocarbon receptor nuclear translocator-like protein 1 (sprot)


SNRPA_HUMAN U1 small nuclear ribonucleoprotein A (sprot)


PLPP2_HUMAN Phospholipid phosphatase 2 (sprot)


NRG2_HUMAN Pro-neuregulin-2, membrane-bound isoform (sprot)


DDX18_HUMAN ATP-dependent RNA helicase DDX18 (sprot)


craniofacial dysplasia - osteopenia syndrome


PDCD1_HUMAN Programmed cell death protein 1 (sprot)


T2R13_HUMAN Taste receptor type 2 member 13 (sprot)


epidermolysis bullosa simplex superficialis


KI3L2_HUMAN Killer cell immunoglobulin-like receptor 3DL2 (sprot)


UBP16_HUMAN Ubiquitin carboxyl-terminal hydrolase 16 (sprot)


GRP4_HUMAN RAS guanyl-releasing protein 4 (sprot)


Bacillus anthracis strain V770-NP1-R antigens


P85A_HUMAN Phosphatidylinositol 3-kinase regulatory subunit alpha (sprot)


CLIC6_HUMAN Chloride intracellular channel protein 6 (sprot)


UGGG2_HUMAN UDP-glucose:glycoprotein glucosyltransferase 2 (sprot)


SIG10_HUMAN Sialic acid-binding Ig-like lectin 10 (sprot)


ZN521_HUMAN Zinc finger protein 521 (sprot)


autosomal dominant nonsyndromic hearing loss 6


ANPRA_HUMAN Atrial natriuretic peptide receptor 1 (sprot)


PLCZ1_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 (sprot)


UNC5A_HUMAN Netrin receptor UNC5A (sprot)


C2C2L_HUMAN Phospholipid transfer protein C2CD2L (sprot)


CD8A_HUMAN T-cell surface glycoprotein CD8 alpha chain (sprot)


HCN1_HUMAN Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 (sprot)


CBPC4_HUMAN Cytosolic carboxypeptidase 4 (sprot)


ZNHI1_HUMAN Zinc finger HIT domain-containing protein 1 (sprot)


EMC5_HUMAN ER membrane protein complex subunit 5 (sprot)


recessive dystrophic epidermolysis bullosa inversa


BL1S6_HUMAN Biogenesis of lysosome-related organelles complex 1 subunit 6 (sprot)


ABCB6_HUMAN ATP-binding cassette sub-family B member 6 (sprot)


PROL1_HUMAN Opiorphin prepropeptide (sprot)


LAT_HUMAN Linker for activation of T-cells family member 1 (sprot)


PLD4_HUMAN 5'-3' exonuclease PLD4 (sprot)


VATC2_HUMAN V-type proton ATPase subunit C 2 (sprot)


ATOX1_HUMAN Copper transport protein ATOX1 (sprot)


ITPR3_HUMAN Inositol 1,4,5-trisphosphate receptor type 3 (sprot)


ZN384_HUMAN Zinc finger protein 384 (sprot)


MLC1_HUMAN Membrane protein MLC1 (sprot)


TMM60_HUMAN Transmembrane protein 60 (sprot)


PO3F2_HUMAN POU domain, class 3, transcription factor 2 (sprot)


MYCB2_HUMAN E3 ubiquitin-protein ligase MYCBP2 (sprot)


Z518B_HUMAN Zinc finger protein 518B (sprot)


TSAP1_HUMAN tRNA selenocysteine 1-associated protein 1 (sprot)


ONEC2_HUMAN One cut domain family member 2 (sprot)


RPP25_HUMAN Ribonuclease P protein subunit p25 (sprot)


RUFY4_HUMAN RUN and FYVE domain-containing protein 4 (sprot)


GFRAL_HUMAN GDNF family receptor alpha-like (sprot)


TSSK6_HUMAN Testis-specific serine/threonine-protein kinase 6 (sprot)


RNF34_HUMAN E3 ubiquitin-protein ligase RNF34 (sprot)


DYRK2_HUMAN Dual specificity tyrosine-phosphorylation-regulated kinase 2 (sprot)


H6ST2_HUMAN Heparan-sulfate 6-O-sulfotransferase 2 (sprot)


SC65_HUMAN Endoplasmic reticulum protein SC65 (sprot)


EI2BE_HUMAN Translation initiation factor eIF-2B subunit epsilon (sprot)


TNF18_HUMAN Tumor necrosis factor ligand superfamily member 18 (sprot)


MMP26_HUMAN Matrix metalloproteinase-26 (sprot)


SIX5_HUMAN Homeobox protein SIX5 (sprot)


MOG_HUMAN Myelin-oligodendrocyte glycoprotein (sprot)


AIF1_HUMAN Allograft inflammatory factor 1 (sprot)


congenital generalized lipodystrophy type 2


HXB6_HUMAN Homeobox protein Hox-B6 (sprot)


HES5_HUMAN Transcription factor HES-5 (sprot)


G3PT_HUMAN Glyceraldehyde-3-phosphate dehydrogenase, testis-specific (sprot)


NIPA1_HUMAN Magnesium transporter NIPA1 (sprot)


AMOL2_HUMAN Angiomotin-like protein 2 (sprot)


GLRA2_HUMAN Glycine receptor subunit alpha-2 (sprot)


CSH2_HUMAN Chorionic somatomammotropin hormone 2 (sprot)


MYCT1_HUMAN Myc target protein 1 (sprot)


Noonan syndrome-like disorder with loose anagen hair 2


AK1A1_HUMAN Aldo-keto reductase family 1 member A1 (sprot)


AATC_HUMAN Aspartate aminotransferase, cytoplasmic (sprot)


KCNJ8_HUMAN ATP-sensitive inward rectifier potassium channel 8 (sprot)


PNCB_HUMAN Nicotinate phosphoribosyltransferase (sprot)


oculocerebral hypopigmentation syndrome, Cross type


SPG16_HUMAN Sperm-associated antigen 16 protein (sprot)


CBL_HUMAN E3 ubiquitin-protein ligase CBL (sprot)


CPXM2_HUMAN Inactive carboxypeptidase-like protein X2 (sprot)


GAK_HUMAN Cyclin-G-associated kinase (sprot)


MCUR1_HUMAN Mitochondrial calcium uniporter regulator 1 (sprot)


DUS18_HUMAN Dual specificity protein phosphatase 18 (sprot)


FX4L4_HUMAN Forkhead box protein D4-like 4 (sprot)


RHG31_HUMAN Rho GTPase-activating protein 31 (sprot)


SIA7C_HUMAN Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (sprot)


PTPRG_HUMAN Receptor-type tyrosine-protein phosphatase gamma (sprot)


LSM5_HUMAN U6 snRNA-associated Sm-like protein LSm5 (sprot)


NPSR1_HUMAN Neuropeptide S receptor (sprot)


mitochondrial complex III deficiency nuclear type 5


CENPU_HUMAN Centromere protein U (sprot)


SIR1_HUMAN NAD-dependent protein deacetylase sirtuin-1 (sprot)


HOP2_HUMAN Homologous-pairing protein 2 homolog (sprot)


AIG1_HUMAN Androgen-induced gene 1 protein (sprot)


methylmalonic aciduria and homocystinuria


RGS14_HUMAN Regulator of G-protein signaling 14 (sprot)


SPCS2_HUMAN Signal peptidase complex subunit 2 (sprot)


PLET1_HUMAN Placenta-expressed transcript 1 protein (sprot)


FOXK1_HUMAN Forkhead box protein K1 (sprot)


RAD17_HUMAN Cell cycle checkpoint protein RAD17 (sprot)


NEUL4_HUMAN Neuralized-like protein 4 (sprot)


MACD2_HUMAN ADP-ribose glycohydrolase MACROD2 (sprot)


LCE1C_HUMAN Late cornified envelope protein 1C (sprot)


PTH2_HUMAN Peptidyl-tRNA hydrolase 2, mitochondrial (sprot)


STXB1_HUMAN Syntaxin-binding protein 1 (sprot)


LINES_HUMAN Protein Lines homolog 1 (sprot)


ELL3_HUMAN RNA polymerase II elongation factor ELL3 (sprot)


K2C1_HUMAN Keratin, type II cytoskeletal 1 (sprot)


F120B_HUMAN Constitutive coactivator of peroxisome proliferator-activated receptor gamma (sprot)


NPC2_HUMAN NPC intracellular cholesterol transporter 2 (sprot)


HS3S6_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 6 (sprot)


5NTC_HUMAN Cytosolic purine 5'-nucleotidase (sprot)


SPAT6_HUMAN Spermatogenesis-associated protein 6 (sprot)


RL31_HUMAN 60S ribosomal protein L31 (sprot)


MACC1_HUMAN Metastasis-associated in colon cancer protein 1 (sprot)


autosomal recessive severe congenital neutropenia


NLGNX_HUMAN Neuroligin-4, X-linked (sprot)


MAML3_HUMAN Mastermind-like protein 3 (sprot)


CO4A5_HUMAN Collagen alpha-5(IV) chain (sprot)


TNNT2_HUMAN Troponin T, cardiac muscle (sprot)


VATE1_HUMAN V-type proton ATPase subunit E 1 (sprot)


KIT_HUMAN Mast/stem cell growth factor receptor Kit (sprot)


PPIP1_HUMAN Proline-serine-threonine phosphatase-interacting protein 1 (sprot)


AP1S3_HUMAN AP-1 complex subunit sigma-3 (sprot)


WSB1_HUMAN WD repeat and SOCS box-containing protein 1 (sprot)


AGT1_HUMAN Alanine--glyoxylate aminotransferase (sprot)


IRAK1_HUMAN Interleukin-1 receptor-associated kinase 1 (sprot)


MSX1_HUMAN Homeobox protein MSX-1 (sprot)


TBL1X_HUMAN F-box-like/WD repeat-containing protein TBL1X (sprot)


OCSTP_HUMAN Osteoclast stimulatory transmembrane protein (sprot)


ZC3H8_HUMAN Zinc finger CCCH domain-containing protein 8 (sprot)


S26A7_HUMAN Anion exchange transporter (sprot)


IMUP_HUMAN Immortalization up-regulated protein (sprot)


TYB4Y_HUMAN Thymosin beta-4, Y-chromosomal (sprot)


RPB7_HUMAN DNA-directed RNA polymerase II subunit RPB7 (sprot)


HOT_HUMAN Hydroxyacid-oxoacid transhydrogenase, mitochondrial (sprot)


TY3H_HUMAN Tyrosine 3-monooxygenase (sprot)


spondyloepimetaphyseal dysplasia, Maroteaux type


BAIP3_HUMAN BAI1-associated protein 3 (sprot)


CEAM3_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 3 (sprot)


RFC4_HUMAN Replication factor C subunit 4 (sprot)


IGHG4_HUMAN Immunoglobulin heavy constant gamma 4 (sprot)


NRK2_HUMAN Nicotinamide riboside kinase 2 (sprot)


SURF4_HUMAN Surfeit locus protein 4 (sprot)


TAF7_HUMAN Transcription initiation factor TFIID subunit 7 (sprot)


NTRK2_HUMAN BDNF/NT-3 growth factors receptor (sprot)


TRAM1_HUMAN Translocating chain-associated membrane protein 1 (sprot)


porphyria due to ALA dehydratase deficiency


ALPK3_HUMAN Alpha-protein kinase 3 (sprot)


ZN281_HUMAN Zinc finger protein 281 (sprot)


BARH2_HUMAN BarH-like 2 homeobox protein (sprot)


PAPS1_HUMAN Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (sprot)


ISG15_HUMAN Ubiquitin-like protein ISG15 (sprot)


LDB1_HUMAN LIM domain-binding protein 1 (sprot)


NKX32_HUMAN Homeobox protein Nkx-3.2 (sprot)


VP37C_HUMAN Vacuolar protein sorting-associated protein 37C (sprot)


PEBP1_HUMAN Phosphatidylethanolamine-binding protein 1 (sprot)


ELK3_HUMAN ETS domain-containing protein Elk-3 (sprot)


MEG11_HUMAN Multiple epidermal growth factor-like domains protein 11 (sprot)


PLCH1_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 (sprot)


SH2D5_HUMAN SH2 domain-containing protein 5 (sprot)


DDI1_HUMAN Protein DDI1 homolog 1 (sprot)


K1C10_HUMAN Keratin, type I cytoskeletal 10 (sprot)


NEIL1_HUMAN Endonuclease 8-like 1 (sprot)


DPYL1_HUMAN Dihydropyrimidinase-related protein 1 (sprot)


T176B_HUMAN Transmembrane protein 176B (sprot)


SCUB1_HUMAN Signal peptide, CUB and EGF-like domain-containing protein 1 (sprot)


RS10_HUMAN 40S ribosomal protein S10 (sprot)


PLCD4_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 (sprot)


Phosphinic acid, P,P-bis(1-aziridinyl)-, (1R)-1-(3-(3-((dimethylamino)carbonyl)phenoxy)-4-nitrophenyl)ethyl ester


KCNG4_HUMAN Potassium voltage-gated channel subfamily G member 4 (sprot)


NOL9_HUMAN Polynucleotide 5'-hydroxyl-kinase NOL9 (sprot)


EGR1_HUMAN Early growth response protein 1 (sprot)


ENPP1_HUMAN Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (sprot)


RAB1B_HUMAN Ras-related protein Rab-1B (sprot)


alpha thalassemia-intellectual disability syndrome type 1


K2C71_HUMAN Keratin, type II cytoskeletal 71 (sprot)


TOM6_HUMAN Mitochondrial import receptor subunit TOM6 homolog (sprot)


neoplasm with perivascular epithelioid cell differentiation


NEK10_HUMAN Serine/threonine-protein kinase Nek10 (sprot)


NANOG_HUMAN Homeobox protein NANOG (sprot)


EKI2_HUMAN Ethanolamine kinase 2 (sprot)


myelodysplastic syndrome with single lineage dysplasia


HEM4_HUMAN Uroporphyrinogen-III synthase (sprot)


KSR1_HUMAN Kinase suppressor of Ras 1 (sprot)


GPR39_HUMAN G-protein coupled receptor 39 (sprot)


IDH3A_HUMAN Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial (sprot)


AMOL1_HUMAN Angiomotin-like protein 1 (sprot)


I23O1_HUMAN Indoleamine 2,3-dioxygenase 1 (sprot)


RBM24_HUMAN RNA-binding protein 24 (sprot)


HAT1_HUMAN Histone acetyltransferase type B catalytic subunit (sprot)


USBP1_HUMAN Harmonin-binding protein USHBP1 (sprot)


WASF2_HUMAN Actin-binding protein WASF2 (sprot)


MEPE_HUMAN Matrix extracellular phosphoglycoprotein (sprot)


bile duct mucinous cystic neoplasm with an associated invasive carcinoma


PRAC1_HUMAN Small nuclear protein PRAC1 (sprot)


GBP3_HUMAN Guanylate-binding protein 3 (sprot)


TDR12_HUMAN Putative ATP-dependent RNA helicase TDRD12 (sprot)


XRCC1_HUMAN DNA repair protein XRCC1 (sprot)


RPC9_HUMAN DNA-directed RNA polymerase III subunit RPC9 (sprot)


PLPP1_HUMAN Phospholipid phosphatase 1 (sprot)


TM45B_HUMAN Transmembrane protein 45B (sprot)


HXB3_HUMAN Homeobox protein Hox-B3 (sprot)


ABC3B_HUMAN DNA dC->dU-editing enzyme APOBEC-3B (sprot)


FOXO1_HUMAN Forkhead box protein O1 (sprot)


TPC10_HUMAN Trafficking protein particle complex subunit 10 (sprot)


LRRF1_HUMAN Leucine-rich repeat flightless-interacting protein 1 (sprot)


ABCE1_HUMAN ATP-binding cassette sub-family E member 1 (sprot)


HPRT_HUMAN Hypoxanthine-guanine phosphoribosyltransferase (sprot)


EXD2_HUMAN Exonuclease 3'-5' domain-containing protein 2 (sprot)


PIP_HUMAN Prolactin-inducible protein (sprot)


MK01_HUMAN Mitogen-activated protein kinase 1 (sprot)


MICA2_HUMAN [F-actin]-monooxygenase MICAL2 (sprot)


MASU1_HUMAN Mitochondrial assembly of ribosomal large subunit protein 1 (sprot)


fatal multiple mitochondrial dysfunctions syndrome


BUB1B_HUMAN Mitotic checkpoint serine/threonine-protein kinase BUB1 beta (sprot)


NUF2_HUMAN Kinetochore protein Nuf2 (sprot)


ABCF1_HUMAN ATP-binding cassette sub-family F member 1 (sprot)


KAD3_HUMAN GTP:AMP phosphotransferase AK3, mitochondrial (sprot)


KITM_HUMAN Thymidine kinase 2, mitochondrial (sprot)


pyoderma gangrenosum-acne-suppurative hidradenitis syndrome


duodenal gastrin-producing neuroendocrine tumor


MYPR_HUMAN Myelin proteolipid protein (sprot)


KCTD7_HUMAN BTB/POZ domain-containing protein KCTD7 (sprot)


CC136_HUMAN Coiled-coil domain-containing protein 136 (sprot)


PKHM2_HUMAN Pleckstrin homology domain-containing family M member 2 (sprot)


TCAL4_HUMAN Transcription elongation factor A protein-like 4 (sprot)


SETD9_HUMAN SET domain-containing protein 9 (sprot)


OSR2_HUMAN Protein odd-skipped-related 2 (sprot)


CCNE2_HUMAN G1/S-specific cyclin-E2 (sprot)


X-linked mixed hearing loss with perilymphatic gusher


CABL2_HUMAN CDK5 and ABL1 enzyme substrate 2 (sprot)


TBX2_HUMAN T-box transcription factor TBX2 (sprot)


WDR6_HUMAN WD repeat-containing protein 6 (sprot)


ALKB1_HUMAN Nucleic acid dioxygenase ALKBH1 (sprot)


ILRL1_HUMAN Interleukin-1 receptor-like 1 (sprot)


MAFF_HUMAN Transcription factor MafF (sprot)


THRSP_HUMAN Thyroid hormone-inducible hepatic protein (sprot)


PDZD4_HUMAN PDZ domain-containing protein 4 (sprot)


GP179_HUMAN Probable G-protein coupled receptor 179 (sprot)


S39A6_HUMAN Zinc transporter ZIP6 (sprot)


cryptogenic multifocal ulcerous stenosing enteritis


NOTC1_HUMAN Neurogenic locus notch homolog protein 1 (sprot)


RLA0_HUMAN 60S acidic ribosomal protein P0 (sprot)


ZDHC6_HUMAN Palmitoyltransferase ZDHHC6 (sprot)


AGAP1_HUMAN Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 (sprot)


X-linked Emery-Dreifuss muscular dystrophy


SIR4_HUMAN NAD-dependent protein lipoamidase sirtuin-4, mitochondrial (sprot)


AOFB_HUMAN Amine oxidase [flavin-containing] B (sprot)


FBX16_HUMAN F-box only protein 16 (sprot)


RDM1_HUMAN RAD52 motif-containing protein 1 (sprot)


BEND3_HUMAN BEN domain-containing protein 3 (sprot)


GHC1_HUMAN Mitochondrial glutamate carrier 1 (sprot)


RASL2_HUMAN Ras GTPase-activating protein 4 (sprot)


BICD1_HUMAN Protein bicaudal D homolog 1 (sprot)


FOXD2_HUMAN Forkhead box protein D2 (sprot)


MYPT2_HUMAN Protein phosphatase 1 regulatory subunit 12B (sprot)


CC14A_HUMAN Dual specificity protein phosphatase CDC14A (sprot)


ZN395_HUMAN Zinc finger protein 395 (sprot)


macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome


UAP1L_HUMAN UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 (sprot)


SAC2_HUMAN Phosphatidylinositide phosphatase SAC2 (sprot)


ROA1_HUMAN Heterogeneous nuclear ribonucleoprotein A1 (sprot)


TBG2_HUMAN Tubulin gamma-2 chain (sprot)


LRRC3_HUMAN Leucine-rich repeat-containing protein 3 (sprot)


CAC1H_HUMAN Voltage-dependent T-type calcium channel subunit alpha-1H (sprot)


TLE1_HUMAN Transducin-like enhancer protein 1 (sprot)


REG3G_HUMAN Regenerating islet-derived protein 3-gamma (sprot)


GSTO2_HUMAN Glutathione S-transferase omega-2 (sprot)


recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome


PRKRA_HUMAN Interferon-inducible double-stranded RNA-dependent protein kinase activator A (sprot)


ISLR_HUMAN Immunoglobulin superfamily containing leucine-rich repeat protein (sprot)


MEIS2_HUMAN Homeobox protein Meis2 (sprot)


NFIP1_HUMAN NEDD4 family-interacting protein 1 (sprot)


DCE2_HUMAN Glutamate decarboxylase 2 (sprot)


TBB4B_HUMAN Tubulin beta-4B chain (sprot)


sickle cell-hemoglobin c disease syndrome


SYDE2_HUMAN Rho GTPase-activating protein SYDE2 (sprot)


RNF8_HUMAN E3 ubiquitin-protein ligase RNF8 (sprot)


KLF5_HUMAN Krueppel-like factor 5 (sprot)


LHPL3_HUMAN LHFPL tetraspan subfamily member 3 protein (sprot)


RHG33_HUMAN Rho GTPase-activating protein 33 (sprot)


NR1D1_HUMAN Nuclear receptor subfamily 1 group D member 1 (sprot)


IGSF1_HUMAN Immunoglobulin superfamily member 1 (sprot)


AFF3_HUMAN AF4/FMR2 family member 3 (sprot)


I13R2_HUMAN Interleukin-13 receptor subunit alpha-2 (sprot)


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly


ZN260_HUMAN Zinc finger protein 260 (sprot)


FBP1L_HUMAN Formin-binding protein 1-like (sprot)


PDK4_HUMAN [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial (sprot)


SFRP5_HUMAN Secreted frizzled-related protein 5 (sprot)


ZRAB3_HUMAN DNA annealing helicase and endonuclease ZRANB3 (sprot)


Z354B_HUMAN Zinc finger protein 354B (sprot)


ZN185_HUMAN Zinc finger protein 185 (sprot)


T2R38_HUMAN Taste receptor type 2 member 38 (sprot)


MCFD2_HUMAN Multiple coagulation factor deficiency protein 2 (sprot)


ZBT43_HUMAN Zinc finger and BTB domain-containing protein 43 (sprot)


DAZ3_HUMAN Deleted in azoospermia protein 3 (sprot)


P5CR1_HUMAN Pyrroline-5-carboxylate reductase 1, mitochondrial (sprot)


ICT1_HUMAN Peptidyl-tRNA hydrolase ICT1, mitochondrial (sprot)


DAXX_HUMAN Death domain-associated protein 6 (sprot)


ACBD4_HUMAN Acyl-CoA-binding domain-containing protein 4 (sprot)


salivary gland basal cell adenocarcinoma


SBNO1_HUMAN Protein strawberry notch homolog 1 (sprot)


IBTK_HUMAN Inhibitor of Bruton tyrosine kinase (sprot)


COX16_HUMAN Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial (sprot)


IL1RA_HUMAN Interleukin-1 receptor antagonist protein (sprot)


ACSM6_HUMAN Acyl-coenzyme A synthetase ACSM6, mitochondrial (sprot)


ST1B1_HUMAN Sulfotransferase 1B1 (sprot)


QCR10_HUMAN Cytochrome b-c1 complex subunit 10 (sprot)


TMM25_HUMAN Transmembrane protein 25 (sprot)


U5S1_HUMAN 116 kDa U5 small nuclear ribonucleoprotein component (sprot)


ECD_HUMAN Protein ecdysoneless homolog (sprot)


BC11B_HUMAN B-cell lymphoma/leukemia 11B (sprot)


IP6K2_HUMAN Inositol hexakisphosphate kinase 2 (sprot)


Anti-Gd2 igg3 monoclonal antibody 3F8 humanized


AT2A3_HUMAN Sarcoplasmic/endoplasmic reticulum calcium ATPase 3 (sprot)


CKAP2_HUMAN Cytoskeleton-associated protein 2 (sprot)


C163A_HUMAN Scavenger receptor cysteine-rich type 1 protein M130 (sprot)


CSN9_HUMAN COP9 signalosome complex subunit 9 (sprot)


HBD_HUMAN Hemoglobin subunit delta (sprot)


GNPTA_HUMAN N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (sprot)


GRHL2_HUMAN Grainyhead-like protein 2 homolog (sprot)


FBX33_HUMAN F-box only protein 33 (sprot)


VKORL_HUMAN Vitamin K epoxide reductase complex subunit 1-like protein 1 (sprot)


UCP4_HUMAN Mitochondrial uncoupling protein 4 (sprot)


TIF1A_HUMAN Transcription intermediary factor 1-alpha (sprot)


ITPR2_HUMAN Inositol 1,4,5-trisphosphate receptor type 2 (sprot)


HLAA_HUMAN HLA class I histocompatibility antigen, A alpha chain (sprot)


ceroid lipofuscinosis, neuronal, 4 (Kufs type)


RET3_HUMAN Retinol-binding protein 3 (sprot)


SAP18_HUMAN Histone deacetylase complex subunit SAP18 (sprot)


SRBS1_HUMAN Sorbin and SH3 domain-containing protein 1 (sprot)


GIMA8_HUMAN GTPase IMAP family member 8 (sprot)


PE2R4_HUMAN Prostaglandin E2 receptor EP4 subtype (sprot)


UCP3_HUMAN Mitochondrial uncoupling protein 3 (sprot)


LMF2_HUMAN Lipase maturation factor 2 (sprot)


NAA15_HUMAN N-alpha-acetyltransferase 15, NatA auxiliary subunit (sprot)


LIPC_HUMAN Hepatic triacylglycerol lipase (sprot)


RARA_HUMAN Retinoic acid receptor alpha (sprot)


TIAF1_HUMAN Putative TGFB1-induced anti-apoptotic factor 1 (sprot)


ROBO3_HUMAN Roundabout homolog 3 (sprot)


NANP8_HUMAN Homeobox protein NANOGP8 (sprot)


GGH_HUMAN Gamma-glutamyl hydrolase (sprot)


KIF17_HUMAN Kinesin-like protein KIF17 (sprot)


progressive pseudorheumatoid arthropathy of childhood


VPS4B_HUMAN Vacuolar protein sorting-associated protein 4B (sprot)


EHMT2_HUMAN Histone-lysine N-methyltransferase EHMT2 (sprot)


ABEC1_HUMAN C->U-editing enzyme APOBEC-1 (sprot)


CHMP7_HUMAN Charged multivesicular body protein 7 (sprot)


TNR18_HUMAN Tumor necrosis factor receptor superfamily member 18 (sprot)


PCSK9_HUMAN Proprotein convertase subtilisin/kexin type 9 (sprot)


NAAA_HUMAN N-acylethanolamine-hydrolyzing acid amidase (sprot)


DIK2B_HUMAN Divergent protein kinase domain 2B (sprot)


EIF1B_HUMAN Eukaryotic translation initiation factor 1b (sprot)


ELF1_HUMAN ETS-related transcription factor Elf-1 (sprot)


PWP3A_HUMAN PWWP domain-containing DNA repair factor 3A (sprot)


IL23A_HUMAN Interleukin-23 subunit alpha (sprot)


KS6A3_HUMAN Ribosomal protein S6 kinase alpha-3 (sprot)


LCLT1_HUMAN Lysocardiolipin acyltransferase 1 (sprot)


STRBP_HUMAN Spermatid perinuclear RNA-binding protein (sprot)


LPAR2_HUMAN Lysophosphatidic acid receptor 2 (sprot)


APOBR_HUMAN Apolipoprotein B receptor (sprot)


CISD3_HUMAN CDGSH iron-sulfur domain-containing protein 3, mitochondrial (sprot)


SHE_HUMAN SH2 domain-containing adapter protein E (sprot)


LAMA3_HUMAN Laminin subunit alpha-3 (sprot)


RPP38_HUMAN Ribonuclease P protein subunit p38 (sprot)


lamina-associated polypeptide 2 isoform alpha (human)


ODO2_HUMAN Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial (sprot)


BACD3_HUMAN BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 (sprot)


ZN239_HUMAN Zinc finger protein 239 (sprot)


congenital muscular dystrophy-infantile cataract-hypogonadism syndrome


RL27_HUMAN 60S ribosomal protein L27 (sprot)


FXL18_HUMAN F-box/LRR-repeat protein 18 (sprot)


KCD19_HUMAN BTB/POZ domain-containing protein KCTD19 (sprot)


CILK1_HUMAN Serine/threonine-protein kinase ICK (sprot)


PDD2L_HUMAN Programmed cell death protein 2-like (sprot)


AMRA1_HUMAN Activating molecule in BECN1-regulated autophagy protein 1 (sprot)


CEMIP_HUMAN Cell migration-inducing and hyaluronan-binding protein (sprot)


ARL2_HUMAN ADP-ribosylation factor-like protein 2 (sprot)


ANGL6_HUMAN Angiopoietin-related protein 6 (sprot)


distal hereditary motor neuropathy type 7


PPIP2_HUMAN Proline-serine-threonine phosphatase-interacting protein 2 (sprot)


KCC1A_HUMAN Calcium/calmodulin-dependent protein kinase type 1 (sprot)


P85B_HUMAN Phosphatidylinositol 3-kinase regulatory subunit beta (sprot)


CCD68_HUMAN Coiled-coil domain-containing protein 68 (sprot)


OSMR_HUMAN Oncostatin-M-specific receptor subunit beta (sprot)


alpha thalassemia-X-linked intellectual disability syndrome


AP2A1_HUMAN AP-2 complex subunit alpha-1 (sprot)


DDI2_HUMAN Protein DDI1 homolog 2 (sprot)


APC4_HUMAN Anaphase-promoting complex subunit 4 (sprot)


AT10A_HUMAN Phospholipid-transporting ATPase VA (sprot)


PP2AB_HUMAN Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform (sprot)


X-linked lymphoproliferative disease due to XIAP deficiency


CPMD8_HUMAN C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 (sprot)


CTR3_HUMAN Cationic amino acid transporter 3 (sprot)


LONF3_HUMAN LON peptidase N-terminal domain and RING finger protein 3 (sprot)


SENP6_HUMAN Sentrin-specific protease 6 (sprot)


NKG2C_HUMAN NKG2-C type II integral membrane protein (sprot)


ASC_HUMAN Apoptosis-associated speck-like protein containing a CARD (sprot)


PAPOG_HUMAN Poly(A) polymerase gamma (sprot)


WBP1L_HUMAN WW domain binding protein 1-like (sprot)


VIPR1_HUMAN Vasoactive intestinal polypeptide receptor 1 (sprot)


SPR2D_HUMAN Small proline-rich protein 2D (sprot)


SAM9L_HUMAN Sterile alpha motif domain-containing protein 9-like (sprot)


TCFL5_HUMAN Transcription factor-like 5 protein (sprot)


PDE6C_HUMAN Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' (sprot)


HORM1_HUMAN HORMA domain-containing protein 1 (sprot)


PLS3_HUMAN Phospholipid scramblase 3 (sprot)


BAIP2_HUMAN Brain-specific angiogenesis inhibitor 1-associated protein 2 (sprot)


classic Hodgkin lymphoma, nodular sclerosis type


GBRP_HUMAN Gamma-aminobutyric acid receptor subunit pi (sprot)


UD18_HUMAN UDP-glucuronosyltransferase 1A8 (sprot)


EIF3K_HUMAN Eukaryotic translation initiation factor 3 subunit K (sprot)


ZBT7C_HUMAN Zinc finger and BTB domain-containing protein 7C (sprot)


CNO6L_HUMAN CCR4-NOT transcription complex subunit 6-like (sprot)


KLH32_HUMAN Kelch-like protein 32 (sprot)


OCRL_HUMAN Inositol polyphosphate 5-phosphatase OCRL (sprot)


TEX11_HUMAN Testis-expressed protein 11 (sprot)


PRB3_HUMAN Basic salivary proline-rich protein 3 (sprot)


X-linked intellectual disability-psychosis-macroorchidism syndrome


SOCS7_HUMAN Suppressor of cytokine signaling 7 (sprot)


SOCS1_HUMAN Suppressor of cytokine signaling 1 (sprot)


DAAM1_HUMAN Disheveled-associated activator of morphogenesis 1 (sprot)


ZRAN1_HUMAN Ubiquitin thioesterase ZRANB1 (sprot)


RL34_HUMAN 60S ribosomal protein L34 (sprot)


TR11B_HUMAN Tumor necrosis factor receptor superfamily member 11B (sprot)


QSOX1_HUMAN Sulfhydryl oxidase 1 (sprot)


SCML2_HUMAN Sex comb on midleg-like protein 2 (sprot)


HHIP_HUMAN Hedgehog-interacting protein (sprot)


SRPK2_HUMAN SRSF protein kinase 2 (sprot)


INO80_HUMAN Chromatin-remodeling ATPase INO80 (sprot)


TCPZ_HUMAN T-complex protein 1 subunit zeta (sprot)


PD1L2_HUMAN Programmed cell death 1 ligand 2 (sprot)


TTC7A_HUMAN Tetratricopeptide repeat protein 7A (sprot)


SCRB2_HUMAN Lysosome membrane protein 2 (sprot)


SIR7_HUMAN NAD-dependent protein deacetylase sirtuin-7 (sprot)


TOIP1_HUMAN Torsin-1A-interacting protein 1 (sprot)


RHG29_HUMAN Rho GTPase-activating protein 29 (sprot)


CBAR2_HUMAN CBY1-interacting BAR domain-containing protein 2 (sprot)


IDE_HUMAN Insulin-degrading enzyme (sprot)


MF2L2_HUMAN Probable guanine nucleotide exchange factor MCF2L2 (sprot)


AGM1_HUMAN Phosphoacetylglucosamine mutase (sprot)


TPH1_HUMAN Tryptophan 5-hydroxylase 1 (sprot)


STK39_HUMAN STE20/SPS1-related proline-alanine-rich protein kinase (sprot)


CCG7_HUMAN Voltage-dependent calcium channel gamma-7 subunit (sprot)


VATO_HUMAN V-type proton ATPase 21 kDa proteolipid subunit c'' (sprot)


CSK22_HUMAN Casein kinase II subunit alpha' (sprot)


NDUA8_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 (sprot)


FA8_HUMAN Coagulation factor VIII (sprot)


RETR1_HUMAN Reticulophagy regulator 1 (sprot)


TAF8_HUMAN Transcription initiation factor TFIID subunit 8 (sprot)


RGS12_HUMAN Regulator of G-protein signaling 12 (sprot)


PAFA2_HUMAN Platelet-activating factor acetylhydrolase 2, cytoplasmic (sprot)


HILS1_HUMAN Putative spermatid-specific linker histone H1-like protein (sprot)


PCY1B_HUMAN Choline-phosphate cytidylyltransferase B (sprot)


ARHL1_HUMAN Inactive ADP-ribosyltransferase ARH2 (sprot)


SYFM_HUMAN Phenylalanine--tRNA ligase, mitochondrial (sprot)


PBOV1_HUMAN Prostate and breast cancer overexpressed gene 1 protein (sprot)


PPR3C_HUMAN Protein phosphatase 1 regulatory subunit 3C (sprot)


GRB7_HUMAN Growth factor receptor-bound protein 7 (sprot)


TRPM2_HUMAN Transient receptor potential cation channel subfamily M member 2 (sprot)


GDIR1_HUMAN Rho GDP-dissociation inhibitor 1 (sprot)


LIRA2_HUMAN Leukocyte immunoglobulin-like receptor subfamily A member 2 (sprot)


PAP1L_HUMAN Polyadenylate-binding protein 1-like (sprot)


CIA30_HUMAN Complex I intermediate-associated protein 30, mitochondrial (sprot)


TERF1_HUMAN Telomeric repeat-binding factor 1 (sprot)


RL13A_HUMAN 60S ribosomal protein L13a (sprot)


ZPBP2_HUMAN Zona pellucida-binding protein 2 (sprot)


GIPC1_HUMAN PDZ domain-containing protein GIPC1 (sprot)


DRD5_HUMAN D(1B) dopamine receptor (sprot)


DMRT3_HUMAN Doublesex- and mab-3-related transcription factor 3 (sprot)


5HT3A_HUMAN 5-hydroxytryptamine receptor 3A (sprot)


PA24B_HUMAN Cytosolic phospholipase A2 beta (sprot)


FPR1_HUMAN fMet-Leu-Phe receptor (sprot)


K2C74_HUMAN Keratin, type II cytoskeletal 74 (sprot)


MARH8_HUMAN E3 ubiquitin-protein ligase MARCHF8 (sprot)


SC6A3_HUMAN Sodium-dependent dopamine transporter (sprot)


GAMT_HUMAN Guanidinoacetate N-methyltransferase (sprot)


febrile infection-related epilepsy syndrome


UBP53_HUMAN Inactive ubiquitin carboxyl-terminal hydrolase 53 (sprot)


PCGF5_HUMAN Polycomb group RING finger protein 5 (sprot)


WIT1_HUMAN Putative Wilms tumor upstream neighbor 1 gene protein (sprot)


YBOX3_HUMAN Y-box-binding protein 3 (sprot)


RED1_HUMAN Double-stranded RNA-specific editase 1 (sprot)


GIMA5_HUMAN GTPase IMAP family member 5 (sprot)


DISP3_HUMAN Protein dispatched homolog 3 (sprot)


ZN675_HUMAN Zinc finger protein 675 (sprot)


FBX30_HUMAN F-box only protein 30 (sprot)


GP149_HUMAN Probable G-protein coupled receptor 149 (sprot)


IL21R_HUMAN Interleukin-21 receptor (sprot)


SETD2_HUMAN Histone-lysine N-methyltransferase SETD2 (sprot)


CABYR_HUMAN Calcium-binding tyrosine phosphorylation-regulated protein (sprot)


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome


RBMS3_HUMAN RNA-binding motif, single-stranded-interacting protein 3 (sprot)


COQ4_HUMAN Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial (sprot)


THAP7_HUMAN THAP domain-containing protein 7 (sprot)


RPGR_HUMAN X-linked retinitis pigmentosa GTPase regulator (sprot)


CDCP1_HUMAN CUB domain-containing protein 1 (sprot)


T178A_HUMAN Transmembrane protein 178A (sprot)


CCDB1_HUMAN Cyclin-D1-binding protein 1 (sprot)


DUS3_HUMAN Dual specificity protein phosphatase 3 (sprot)


KC1D_HUMAN Casein kinase I isoform delta (sprot)


ST32B_HUMAN Serine/threonine-protein kinase 32B (sprot)


WFDC1_HUMAN WAP four-disulfide core domain protein 1 (sprot)


PSG2_HUMAN Pregnancy-specific beta-1-glycoprotein 2 (sprot)


DDR2_HUMAN Discoidin domain-containing receptor 2 (sprot)


GLIP1_HUMAN Glioma pathogenesis-related protein 1 (sprot)


RAD51_HUMAN DNA repair protein RAD51 homolog 1 (sprot)


RS15A_HUMAN 40S ribosomal protein S15a (sprot)


KANK1_HUMAN KN motif and ankyrin repeat domain-containing protein 1 (sprot)


intellectual disability, autosomal dominant 24


ALPK1_HUMAN Alpha-protein kinase 1 (sprot)


NDUS5_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 5 (sprot)


PTPRJ_HUMAN Receptor-type tyrosine-protein phosphatase eta (sprot)


Pentanoic acid, 4-(((1,1'-biphenyl)-4-ylcarbonyl)amino)-5-((2-(4-fluorophenyl)-1,1-dimethylethyl)amino)-5-oxo-, (4S)-


MMP14_HUMAN Matrix metalloproteinase-14 (sprot)


PDIP2_HUMAN Polymerase delta-interacting protein 2 (sprot)


STIM1_HUMAN Stromal interaction molecule 1 (sprot)


DND1_HUMAN Dead end protein homolog 1 (sprot)


TRI32_HUMAN E3 ubiquitin-protein ligase TRIM32 (sprot)


GASR_HUMAN Gastrin/cholecystokinin type B receptor (sprot)


ERGI1_HUMAN Endoplasmic reticulum-Golgi intermediate compartment protein 1 (sprot)


autism spectrum disorder due to AUTS2 deficiency


EFNMT_HUMAN eEF1A lysine and N-terminal methyltransferase (sprot)


MTREX_HUMAN Exosome RNA helicase MTR4 (sprot)


WIPF3_HUMAN WAS/WASL-interacting protein family member 3 (sprot)


SH3R1_HUMAN E3 ubiquitin-protein ligase SH3RF1 (sprot)


posterior polymorphous corneal dystrophy 1


CPT1A_HUMAN Carnitine O-palmitoyltransferase 1, liver isoform (sprot)


SH3K1_HUMAN SH3 domain-containing kinase-binding protein 1 (sprot)


OSTA_HUMAN Organic solute transporter subunit alpha (sprot)


BBS5_HUMAN Bardet-Biedl syndrome 5 protein (sprot)


DPOD1_HUMAN DNA polymerase delta catalytic subunit (sprot)


CDKL1_HUMAN Cyclin-dependent kinase-like 1 (sprot)


ZBT21_HUMAN Zinc finger and BTB domain-containing protein 21 (sprot)


TBX22_HUMAN T-box transcription factor TBX22 (sprot)


ZNF24_HUMAN Zinc finger protein 24 (sprot)


familial juvenile hyperuricemic nephropathy type 2


SETB2_HUMAN Histone-lysine N-methyltransferase SETDB2 (sprot)


biliary atresia with splenic malformation syndrome


KCD12_HUMAN BTB/POZ domain-containing protein KCTD12 (sprot)


MYO6_HUMAN Unconventional myosin-VI (sprot)


SMIM1_HUMAN Small integral membrane protein 1 (sprot)


UBIA1_HUMAN UbiA prenyltransferase domain-containing protein 1 (sprot)


SPT32_HUMAN Spermatogenesis-associated protein 32 (sprot)


CSF3_HUMAN Granulocyte colony-stimulating factor (sprot)


RIMB2_HUMAN RIMS-binding protein 2 (sprot)


congenital insensitivity to pain-hypohidrosis syndrome


ERN2_HUMAN Serine/threonine-protein kinase/endoribonuclease IRE2 (sprot)


FSHR_HUMAN Follicle-stimulating hormone receptor (sprot)


DEP1B_HUMAN DEP domain-containing protein 1B (sprot)


RNH2B_HUMAN Ribonuclease H2 subunit B (sprot)


DCLK2_HUMAN Serine/threonine-protein kinase DCLK2 (sprot)


Hodgkin's lymphoma, lymphocytic-histiocytic predominance


G2E3_HUMAN G2/M phase-specific E3 ubiquitin-protein ligase (sprot)


SWET1_HUMAN Sugar transporter SWEET1 (sprot)


TRIM3_HUMAN Tripartite motif-containing protein 3 (sprot)


MGT4B_HUMAN Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B (sprot)


LTOR2_HUMAN Ragulator complex protein LAMTOR2 (sprot)


ANM5_HUMAN Protein arginine N-methyltransferase 5 (sprot)


subcutaneous panniculitis-like T-cell lymphoma


TBCC1_HUMAN TBCC domain-containing protein 1 (sprot)


DOCK9_HUMAN Dedicator of cytokinesis protein 9 (sprot)


PDXL2_HUMAN Podocalyxin-like protein 2 (sprot)


severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome


RPB1_HUMAN DNA-directed RNA polymerase II subunit RPB1 (sprot)


S13A2_HUMAN Solute carrier family 13 member 2 (sprot)


RHG23_HUMAN Rho GTPase-activating protein 23 (sprot)


GUAA_HUMAN GMP synthase [glutamine-hydrolyzing] (sprot)


SCRT2_HUMAN Transcriptional repressor scratch 2 (sprot)


CNOT4_HUMAN CCR4-NOT transcription complex subunit 4 (sprot)


SPC24_HUMAN Kinetochore protein Spc24 (sprot)


AGRE5_HUMAN Adhesion G protein-coupled receptor E5 (sprot)


TIM14_HUMAN Mitochondrial import inner membrane translocase subunit TIM14 (sprot)


EMAL2_HUMAN Echinoderm microtubule-associated protein-like 2 (sprot)


MSPD2_HUMAN Motile sperm domain-containing protein 2 (sprot)


SUSD4_HUMAN Sushi domain-containing protein 4 (sprot)


LRC52_HUMAN Leucine-rich repeat-containing protein 52 (sprot)


MAGH1_HUMAN Melanoma-associated antigen H1 (sprot)


SYNG1_HUMAN Synapse differentiation-inducing gene protein 1 (sprot)


VPS35_HUMAN Vacuolar protein sorting-associated protein 35 (sprot)


NDUF6_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 (sprot)


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations


GRIA3_HUMAN Glutamate receptor 3 (sprot)


ZN287_HUMAN Zinc finger protein 287 (sprot)


PSB5_HUMAN Proteasome subunit beta type-5 (sprot)


HME2_HUMAN Homeobox protein engrailed-2 (sprot)


RS29_HUMAN 40S ribosomal protein S29 (sprot)


ARP19_HUMAN cAMP-regulated phosphoprotein 19 (sprot)


YJU2B_HUMAN Probable splicing factor YJU2B (sprot)


Arsenic(III)oxide,arsenic trioxide,arsenous acid anhydride,arsenous acid,arsenic sesquioxide,white arsenic


FMR1N_HUMAN FMR1 neighbor protein (sprot)


ETV3L_HUMAN ETS translocation variant 3-like protein (sprot)


SCMC1_HUMAN Calcium-binding mitochondrial carrier protein SCaMC-1 (sprot)


MINP1_HUMAN Multiple inositol polyphosphate phosphatase 1 (sprot)


idiopathic chronic eosinophilic pneumonia


1433G_HUMAN 14-3-3 protein gamma (sprot)


C1QC_HUMAN Complement C1q subcomponent subunit C (sprot)


TNR11_HUMAN Tumor necrosis factor receptor superfamily member 11A (sprot)


JMJD6_HUMAN Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 (sprot)


COPT1_HUMAN High affinity copper uptake protein 1 (sprot)


BMAL2_HUMAN Aryl hydrocarbon receptor nuclear translocator-like protein 2 (sprot)


IGS10_HUMAN Immunoglobulin superfamily member 10 (sprot)


VIAAT_HUMAN Vesicular inhibitory amino acid transporter (sprot)


SUSD2_HUMAN Sushi domain-containing protein 2 (sprot)


GPR82_HUMAN Probable G-protein coupled receptor 82 (sprot)


VIP1_HUMAN Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1 (sprot)


RFC2_HUMAN Replication factor C subunit 2 (sprot)


IF4G3_HUMAN Eukaryotic translation initiation factor 4 gamma 3 (sprot)


PCSK6_HUMAN Proprotein convertase subtilisin/kexin type 6 (sprot)


CXA1_HUMAN Gap junction alpha-1 protein (sprot)


LGI1_HUMAN Leucine-rich glioma-inactivated protein 1 (sprot)


MCSP_HUMAN Sperm mitochondrial-associated cysteine-rich protein (sprot)


WNK3_HUMAN Serine/threonine-protein kinase WNK3 (sprot)


DUS11_HUMAN RNA/RNP complex-1-interacting phosphatase (sprot)


ANS1A_HUMAN Ankyrin repeat and SAM domain-containing protein 1A (sprot)


SCN1A_HUMAN Sodium channel protein type 1 subunit alpha (sprot)


LRC34_HUMAN Leucine-rich repeat-containing protein 34 (sprot)


MDHM_HUMAN Malate dehydrogenase, mitochondrial (sprot)


recessive dystrophic epidermolysis bullosa


EXOC7_HUMAN Exocyst complex component 7 (sprot)


WFKN1_HUMAN WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 1 (sprot)


KAP1_HUMAN cAMP-dependent protein kinase type I-beta regulatory subunit (sprot)


TRXR2_HUMAN Thioredoxin reductase 2, mitochondrial (sprot)


MSTO1_HUMAN Protein misato homolog 1 (sprot)


KRT38_HUMAN Keratin, type I cuticular Ha8 (sprot)


ZN568_HUMAN Zinc finger protein 568 (sprot)


autosomal recessive nonsyndromic hearing loss 1A


ODF3A_HUMAN Outer dense fiber protein 3 (sprot)


ACP7_HUMAN Acid phosphatase type 7 (sprot)


DHI1L_HUMAN Hydroxysteroid 11-beta-dehydrogenase 1-like protein (sprot)


KCNK9_HUMAN Potassium channel subfamily K member 9 (sprot)


ZN282_HUMAN Zinc finger protein 282 (sprot)


ADNP_HUMAN Activity-dependent neuroprotector homeobox protein (sprot)


ABCB9_HUMAN ABC-type oligopeptide transporter ABCB9 (sprot)


GT251_HUMAN Procollagen galactosyltransferase 1 (sprot)


CKLF4_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 4 (sprot)


RBM15_HUMAN RNA-binding protein 15 (sprot)


SIX4_HUMAN Homeobox protein SIX4 (sprot)


ALPK2_HUMAN Alpha-protein kinase 2 (sprot)


OLFL3_HUMAN Olfactomedin-like protein 3 (sprot)


ANR28_HUMAN Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A (sprot)


HAX1_HUMAN HCLS1-associated protein X-1 (sprot)


CALCB_HUMAN Calcitonin gene-related peptide 2 (sprot)


RIMS1_HUMAN Regulating synaptic membrane exocytosis protein 1 (sprot)


FXYD7_HUMAN FXYD domain-containing ion transport regulator 7 (sprot)


GLTL6_HUMAN Polypeptide N-acetylgalactosaminyltransferase-like 6 (sprot)


HCLS1_HUMAN Hematopoietic lineage cell-specific protein (sprot)


KLH24_HUMAN Kelch-like protein 24 (sprot)


MAGE2_HUMAN Melanoma-associated antigen E2 (sprot)


ATP9B_HUMAN Probable phospholipid-transporting ATPase IIB (sprot)


TCP11_HUMAN T-complex protein 11 homolog (sprot)


RENBP_HUMAN N-acylglucosamine 2-epimerase (sprot)


DGAT1_HUMAN Diacylglycerol O-acyltransferase 1 (sprot)


TTBK2_HUMAN Tau-tubulin kinase 2 (sprot)


ACTT1_HUMAN Actin-related protein T1 (sprot)


ABCG8_HUMAN ATP-binding cassette sub-family G member 8 (sprot)


PTK7_HUMAN Inactive tyrosine-protein kinase 7 (sprot)


CLUL1_HUMAN Clusterin-like protein 1 (sprot)


MFS10_HUMAN Major facilitator superfamily domain-containing protein 10 (sprot)


CEP85_HUMAN Centrosomal protein of 85 kDa (sprot)


NFU1_HUMAN NFU1 iron-sulfur cluster scaffold homolog, mitochondrial (sprot)


RASF8_HUMAN Ras association domain-containing protein 8 (sprot)


encephalopathy due to hydroxykynureninuria


PALB2_HUMAN Partner and localizer of BRCA2 (sprot)


SDIM1_HUMAN Stress-responsive DNAJB4-interacting membrane protein 1 (sprot)


GATA5_HUMAN Transcription factor GATA-5 (sprot)


PDE8B_HUMAN High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B (sprot)


PXT1_HUMAN Peroxisomal testis-specific protein 1 (sprot)


CHD6_HUMAN Chromodomain-helicase-DNA-binding protein 6 (sprot)


U2QL1_HUMAN Ubiquitin-conjugating enzyme E2Q-like protein 1 (sprot)


LGR6_HUMAN Leucine-rich repeat-containing G-protein coupled receptor 6 (sprot)


cystic partially differentiated nephroblastoma


TFPI1_HUMAN Tissue factor pathway inhibitor (sprot)


JAM3_HUMAN Junctional adhesion molecule C (sprot)


CCG3_HUMAN Voltage-dependent calcium channel gamma-3 subunit (sprot)


FPR3_HUMAN N-formyl peptide receptor 3 (sprot)


GSAP_HUMAN Gamma-secretase-activating protein (sprot)


TAF2_HUMAN Transcription initiation factor TFIID subunit 2 (sprot)


HEBP1_HUMAN Heme-binding protein 1 (sprot)


TAGAP_HUMAN T-cell activation Rho GTPase-activating protein (sprot)


WASC5_HUMAN WASH complex subunit 5 (sprot)


PK1IP_HUMAN p21-activated protein kinase-interacting protein 1 (sprot)


M4K3_HUMAN Mitogen-activated protein kinase kinase kinase kinase 3 (sprot)


HNRPR_HUMAN Heterogeneous nuclear ribonucleoprotein R (sprot)


S35D2_HUMAN UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter (sprot)


RHGBB_HUMAN Inactive Rho GTPase-activating protein 11B (sprot)


FBXL7_HUMAN F-box/LRR-repeat protein 7 (sprot)


CP2CJ_HUMAN Cytochrome P450 2C19 (sprot)


AIPL1_HUMAN Aryl-hydrocarbon-interacting protein-like 1 (sprot)


ALG1_HUMAN Chitobiosyldiphosphodolichol beta-mannosyltransferase (sprot)


SAMD1_HUMAN Sterile alpha motif domain-containing protein 1 (sprot)


short-rib thoracic dysplasia 9 with or without polydactyly


PIAS2_HUMAN E3 SUMO-protein ligase PIAS2 (sprot)


DHX40_HUMAN Probable ATP-dependent RNA helicase DHX40 (sprot)


renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions


NRL_HUMAN Neural retina-specific leucine zipper protein (sprot)


CD1B_HUMAN T-cell surface glycoprotein CD1b (sprot)


PEBP4_HUMAN Phosphatidylethanolamine-binding protein 4 (sprot)


CHD3_HUMAN Chromodomain-helicase-DNA-binding protein 3 (sprot)


PGGHG_HUMAN Protein-glucosylgalactosylhydroxylysine glucosidase (sprot)


COBA1_HUMAN Collagen alpha-1(XI) chain (sprot)


REPS1_HUMAN RalBP1-associated Eps domain-containing protein 1 (sprot)


CRTAP_HUMAN Cartilage-associated protein (sprot)


NDUBB_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial (sprot)


PRIMA_HUMAN Proline-rich membrane anchor 1 (sprot)


GBP1_HUMAN Guanylate-binding protein 1 (sprot)


desmin-related myopathy with Mallory body-like inclusions


NELL2_HUMAN Protein kinase C-binding protein NELL2 (sprot)


CCNB2_HUMAN G2/mitotic-specific cyclin-B2 (sprot)


AAK1_HUMAN AP2-associated protein kinase 1 (sprot)


NEU2_HUMAN Vasopressin-neurophysin 2-copeptin (sprot)


SPAT7_HUMAN Spermatogenesis-associated protein 7 (sprot)


TTC14_HUMAN Tetratricopeptide repeat protein 14 (sprot)


SYTL3_HUMAN Synaptotagmin-like protein 3 (sprot)


RAB6B_HUMAN Ras-related protein Rab-6B (sprot)


ZDHC3_HUMAN Palmitoyltransferase ZDHHC3 (sprot)


RB39B_HUMAN Ras-related protein Rab-39B (sprot)


WDR91_HUMAN WD repeat-containing protein 91 (sprot)


PRP16_HUMAN Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 (sprot)


ANPRC_HUMAN Atrial natriuretic peptide receptor 3 (sprot)


AOAH_HUMAN Acyloxyacyl hydrolase (sprot)


CSC1_HUMAN Calcium permeable stress-gated cation channel 1 (sprot)


KRA11_HUMAN Keratin-associated protein 1-1 (sprot)


KLHL7_HUMAN Kelch-like protein 7 (sprot)


GRAP1_HUMAN GRIP1-associated protein 1 (sprot)


CRCT1_HUMAN Cysteine-rich C-terminal protein 1 (sprot)


SCAR5_HUMAN Scavenger receptor class A member 5 (sprot)


PRUN1_HUMAN Exopolyphosphatase PRUNE1 (sprot)


ODPA_HUMAN Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial (sprot)


CP26A_HUMAN Cytochrome P450 26A1 (sprot)


BCL10_HUMAN B-cell lymphoma/leukemia 10 (sprot)


LYRM4_HUMAN LYR motif-containing protein 4 (sprot)


BAZ1A_HUMAN Bromodomain adjacent to zinc finger domain protein 1A (sprot)


RAN_HUMAN GTP-binding nuclear protein Ran (sprot)


simian acquired immunodeficiency syndrome


CEP70_HUMAN Centrosomal protein of 70 kDa (sprot)


PP13G_HUMAN Protein phosphatase 1 regulatory subunit 3G (sprot)


isolated growth hormone deficiency type III


RDH5_HUMAN Retinol dehydrogenase 5 (sprot)


HBB_HUMAN Hemoglobin subunit beta (sprot)


DNJC8_HUMAN DnaJ homolog subfamily C member 8 (sprot)


SPNXA_HUMAN Sperm protein associated with the nucleus on the X chromosome A (sprot)


LACC1_HUMAN Purine nucleoside phosphorylase LACC1 (sprot)


rhizomelic chondrodysplasia punctata type 3


NPFF1_HUMAN Neuropeptide FF receptor 1 (sprot)


CEP41_HUMAN Centrosomal protein of 41 kDa (sprot)


CD123_HUMAN Cell division cycle protein 123 homolog (sprot)


GLRB_HUMAN Glycine receptor subunit beta (sprot)


FATE1_HUMAN Fetal and adult testis-expressed transcript protein (sprot)


VPS41_HUMAN Vacuolar protein sorting-associated protein 41 homolog (sprot)


SAPC2_HUMAN Suppressor APC domain-containing protein 2 (sprot)


P3H2_HUMAN Prolyl 3-hydroxylase 2 (sprot)


CCD34_HUMAN Coiled-coil domain-containing protein 34 (sprot)


PDE4C_HUMAN cAMP-specific 3',5'-cyclic phosphodiesterase 4C (sprot)


FKB1A_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP1A (sprot)


OXGR1_HUMAN 2-oxoglutarate receptor 1 (sprot)


RFX7_HUMAN DNA-binding protein RFX7 (sprot)


VATC1_HUMAN V-type proton ATPase subunit C 1 (sprot)


HGFL_HUMAN Hepatocyte growth factor-like protein (sprot)


RP9_HUMAN Retinitis pigmentosa 9 protein (sprot)


PGM5_HUMAN Phosphoglucomutase-like protein 5 (sprot)


PTN23_HUMAN Tyrosine-protein phosphatase non-receptor type 23 (sprot)


PC11X_HUMAN Protocadherin-11 X-linked (sprot)


TBC25_HUMAN TBC1 domain family member 25 (sprot)


HYAS3_HUMAN Hyaluronan synthase 3 (sprot)


TAL1_HUMAN T-cell acute lymphocytic leukemia protein 1 (sprot)


ZFPL1_HUMAN Zinc finger protein-like 1 (sprot)


TNG2_HUMAN Transport and Golgi organization protein 2 homolog (sprot)


FGF19_HUMAN Fibroblast growth factor 19 (sprot)


S12A1_HUMAN Solute carrier family 12 member 1 (sprot)


ZN266_HUMAN Zinc finger protein 266 (sprot)


KI2S5_HUMAN Killer cell immunoglobulin-like receptor 2DS5 (sprot)


SC5A6_HUMAN Sodium-dependent multivitamin transporter (sprot)


C4BPA_HUMAN C4b-binding protein alpha chain (sprot)


thyroid gland oncocytic follicular carcinoma


KCNF1_HUMAN Potassium voltage-gated channel subfamily F member 1 (sprot)


TEAD4_HUMAN Transcriptional enhancer factor TEF-3 (sprot)


SC16A_HUMAN Protein transport protein Sec16A (sprot)


C2C4C_HUMAN C2 calcium-dependent domain-containing protein 4C (sprot)


MIEAP_HUMAN Mitochondria-eating protein (sprot)


Cladosporium herbarum allergenic extract


MSH5_HUMAN MutS protein homolog 5 (sprot)


COMD1_HUMAN COMM domain-containing protein 1 (sprot)


TRI25_HUMAN E3 ubiquitin/ISG15 ligase TRIM25 (sprot)


multiple acyl-CoA dehydrogenase deficiency


OSGI1_HUMAN Oxidative stress-induced growth inhibitor 1 (sprot)


DRS7C_HUMAN Dehydrogenase/reductase SDR family member 7C (sprot)


AGRL2_HUMAN Adhesion G protein-coupled receptor L2 (sprot)


CLIC1_HUMAN Chloride intracellular channel protein 1 (sprot)


UCHL5_HUMAN Ubiquitin carboxyl-terminal hydrolase isozyme L5 (sprot)


NRAP_HUMAN Nebulin-related-anchoring protein (sprot)


PAGE3_HUMAN P antigen family member 3 (sprot)


RNBP6_HUMAN Ran-binding protein 6 (sprot)


CLTR2_HUMAN Cysteinyl leukotriene receptor 2 (sprot)


EMAL1_HUMAN Echinoderm microtubule-associated protein-like 1 (sprot)


autosomal recessive nonsyndromic hearing loss 97


IR3IP_HUMAN Immediate early response 3-interacting protein 1 (sprot)


AGT2_HUMAN Alanine--glyoxylate aminotransferase 2, mitochondrial (sprot)


fatty acid hydroxylase-associated neurodegeneration


PTEN_HUMAN Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN (sprot)


TAFA2_HUMAN Chemokine-like protein TAFA-2 (sprot)