GALT8_HUMAN Probable polypeptide N-acetylgalactosaminyltransferase 8 (sprot)


PPR17_HUMAN Protein phosphatase 1 regulatory subunit 17 (sprot)


TYW1_HUMAN S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 (sprot)


FNDC1_HUMAN Fibronectin type III domain-containing protein 1 (sprot)


FIP1_HUMAN Pre-mRNA 3'-end-processing factor FIP1 (sprot)


IF4A3_HUMAN Eukaryotic initiation factor 4A-III (sprot)


P5CS_HUMAN Delta-1-pyrroline-5-carboxylate synthase (sprot)


HLAF_HUMAN HLA class I histocompatibility antigen, alpha chain F (sprot)


VWA8_HUMAN von Willebrand factor A domain-containing protein 8 (sprot)


MAGAA_HUMAN Melanoma-associated antigen 10 (sprot)


MAGD1_HUMAN Melanoma-associated antigen D1 (sprot)


MCM5_HUMAN DNA replication licensing factor MCM5 (sprot)


ADAM9_HUMAN Disintegrin and metalloproteinase domain-containing protein 9 (sprot)


IMPA2_HUMAN Inositol monophosphatase 2 (sprot)


DAAF5_HUMAN Dynein axonemal assembly factor 5 (sprot)


ACL6B_HUMAN Actin-like protein 6B (sprot)


PDE1B_HUMAN Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B (sprot)


CSHL_HUMAN Chorionic somatomammotropin hormone-like 1 (sprot)


TF2H3_HUMAN General transcription factor IIH subunit 3 (sprot)


ASCL3_HUMAN Achaete-scute homolog 3 (sprot)


TRAK2_HUMAN Trafficking kinesin-binding protein 2 (sprot)


transitional cell carcinoma of the corpus uteri


PPA5_HUMAN Tartrate-resistant acid phosphatase type 5 (sprot)


TIRAP_HUMAN Toll/interleukin-1 receptor domain-containing adapter protein (sprot)


BAX_HUMAN Apoptosis regulator BAX (sprot)


ARPC3_HUMAN Actin-related protein 2/3 complex subunit 3 (sprot)


EMID1_HUMAN EMI domain-containing protein 1 (sprot)


HNF4G_HUMAN Hepatocyte nuclear factor 4-gamma (sprot)


MCCA_HUMAN Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (sprot)


TET5C_HUMAN Terminal nucleotidyltransferase 5C (sprot)


CALL4_HUMAN Calmodulin-like protein 4 (sprot)


CXA9_HUMAN Gap junction alpha-9 protein (sprot)


DRC1_HUMAN Dynein regulatory complex protein 1 (sprot)


TF2B_HUMAN Transcription initiation factor IIB (sprot)


POZP3_HUMAN POM121 and ZP3 fusion protein (sprot)


BMP10_HUMAN Bone morphogenetic protein 10 (sprot)


KIFC3_HUMAN Kinesin-like protein KIFC3 (sprot)


XRCC6_HUMAN X-ray repair cross-complementing protein 6 (sprot)


GGT1_HUMAN Glutathione hydrolase 1 proenzyme (sprot)


CDK7_HUMAN Cyclin-dependent kinase 7 (sprot)


CNKR2_HUMAN Connector enhancer of kinase suppressor of ras 2 (sprot)


RT09_HUMAN 28S ribosomal protein S9, mitochondrial (sprot)


UBP33_HUMAN Ubiquitin carboxyl-terminal hydrolase 33 (sprot)


FOXF2_HUMAN Forkhead box protein F2 (sprot)


ZNF3_HUMAN Zinc finger protein 3 (sprot)


IL27B_HUMAN Interleukin-27 subunit beta (sprot)


MAZ_HUMAN Myc-associated zinc finger protein (sprot)


PRP18_HUMAN Pre-mRNA-splicing factor 18 (sprot)


NOM1_HUMAN Nucleolar MIF4G domain-containing protein 1 (sprot)


SCRB1_HUMAN Scavenger receptor class B member 1 (sprot)


TMM26_HUMAN Transmembrane protein 26 (sprot)


LYVE1_HUMAN Lymphatic vessel endothelial hyaluronic acid receptor 1 (sprot)


MOT5_HUMAN Monocarboxylate transporter 5 (sprot)


SC24A_HUMAN Protein transport protein Sec24A (sprot)


SPX3_HUMAN Sugar phosphate exchanger 3 (sprot)


autosomal recessive limb-girdle muscular dystrophy type 2D


severe nonproliferative diabetic retinopathy


CNPY1_HUMAN Protein canopy homolog 1 (sprot)


DHX37_HUMAN Probable ATP-dependent RNA helicase DHX37 (sprot)


CIZ1_HUMAN Cip1-interacting zinc finger protein (sprot)


FUMH_HUMAN Fumarate hydratase, mitochondrial (sprot)


MATN1_HUMAN Cartilage matrix protein (sprot)


FGF13_HUMAN Fibroblast growth factor 13 (sprot)


BORA_HUMAN Protein aurora borealis (sprot)


SCOC_HUMAN Short coiled-coil protein (sprot)


DSCL1_HUMAN Cell adhesion molecule DSCAML1 (sprot)


TDRD5_HUMAN Tudor domain-containing protein 5 (sprot)


SIM29_HUMAN Small integral membrane protein 29 (sprot)


autosomal dominant nonsyndromic hearing loss 51


temporomandibular joint dysfunction syndrome


ACHD_HUMAN Acetylcholine receptor subunit delta (sprot)


GLT16_HUMAN Polypeptide N-acetylgalactosaminyltransferase 16 (sprot)


SC5A3_HUMAN Sodium/myo-inositol cotransporter (sprot)


LIRA6_HUMAN Leukocyte immunoglobulin-like receptor subfamily A member 6 (sprot)


STIP1_HUMAN Stress-induced-phosphoprotein 1 (sprot)


DDX55_HUMAN ATP-dependent RNA helicase DDX55 (sprot)


S14L3_HUMAN SEC14-like protein 3 (sprot)


EXOS5_HUMAN Exosome complex component RRP46 (sprot)


FCRL2_HUMAN Fc receptor-like protein 2 (sprot)


CLPP_HUMAN ATP-dependent Clp protease proteolytic subunit, mitochondrial (sprot)


FIS1_HUMAN Mitochondrial fission 1 protein (sprot)


GBG8_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8 (sprot)


MCTP2_HUMAN Multiple C2 and transmembrane domain-containing protein 2 (sprot)


AR6P6_HUMAN ADP-ribosylation factor-like protein 6-interacting protein 6 (sprot)


ZN823_HUMAN Zinc finger protein 823 (sprot)


ZNRF1_HUMAN E3 ubiquitin-protein ligase ZNRF1 (sprot)


OPA1_HUMAN Dynamin-like 120 kDa protein, mitochondrial (sprot)


Terephthalylidene dicamphor sulfonic acid


AT2B2_HUMAN Plasma membrane calcium-transporting ATPase 2 (sprot)


MARH5_HUMAN E3 ubiquitin-protein ligase MARCHF5 (sprot)


BORG3_HUMAN Cdc42 effector protein 5 (sprot)


HIPK2_HUMAN Homeodomain-interacting protein kinase 2 (sprot)


T150B_HUMAN Modulator of macroautophagy TMEM150B (sprot)


COJA1_HUMAN Collagen alpha-1(XIX) chain (sprot)


XAGE3_HUMAN X antigen family member 3 (sprot)


RSLAB_HUMAN Ras-like protein family member 10B (sprot)


RHG17_HUMAN Rho GTPase-activating protein 17 (sprot)


SMRP1_HUMAN Spermatid-specific manchette-related protein 1 (sprot)


diffuse large B-cell lymphoma of the central nervous system


MYPT1_HUMAN Protein phosphatase 1 regulatory subunit 12A (sprot)


SIDT1_HUMAN SID1 transmembrane family member 1 (sprot)


UBP8_HUMAN Ubiquitin carboxyl-terminal hydrolase 8 (sprot)


SIN3B_HUMAN Paired amphipathic helix protein Sin3b (sprot)


KLF8_HUMAN Krueppel-like factor 8 (sprot)


CCAR1_HUMAN Cell division cycle and apoptosis regulator protein 1 (sprot)


Glycosylated Recombinant Human Interleukin-7


RAD21_HUMAN Double-strand-break repair protein rad21 homolog (sprot)


IFM10_HUMAN Interferon-induced transmembrane protein 10 (sprot)


IFI44_HUMAN Interferon-induced protein 44 (sprot)


RPC6_HUMAN DNA-directed RNA polymerase III subunit RPC6 (sprot)


LIGO2_HUMAN Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2 (sprot)


TTLL7_HUMAN Tubulin polyglutamylase TTLL7 (sprot)


SC6A7_HUMAN Sodium-dependent proline transporter (sprot)


KAP3_HUMAN cAMP-dependent protein kinase type II-beta regulatory subunit (sprot)


CAR17_HUMAN Putative caspase recruitment domain-containing protein 17P (sprot)


PIRT_HUMAN Phosphoinositide-interacting protein (sprot)


DIK1B_HUMAN Divergent protein kinase domain 1B (sprot)


mitochondrial myopathy-lactic acidosis-deafness syndrome


SCUB3_HUMAN Signal peptide, CUB and EGF-like domain-containing protein 3 (sprot)


GP160_HUMAN Probable G-protein coupled receptor 160 (sprot)


G6PI_HUMAN Glucose-6-phosphate isomerase (sprot)


OSCAR_HUMAN Osteoclast-associated immunoglobulin-like receptor (sprot)


RL39_HUMAN 60S ribosomal protein L39 (sprot)


S13A1_HUMAN Solute carrier family 13 member 1 (sprot)


A1AG1_HUMAN Alpha-1-acid glycoprotein 1 (sprot)


COE1_HUMAN Transcription factor COE1 (sprot)


DDX31_HUMAN Probable ATP-dependent RNA helicase DDX31 (sprot)


MARH6_HUMAN E3 ubiquitin-protein ligase MARCHF6 (sprot)


monoclonal gammopathy of uncertain significance


NOC2L_HUMAN Nucleolar complex protein 2 homolog (sprot)


MTMR4_HUMAN Myotubularin-related protein 4 (sprot)


SPRY7_HUMAN SPRY domain-containing protein 7 (sprot)


RL41_HUMAN 60S ribosomal protein L41 (sprot)


ZCH10_HUMAN Zinc finger CCHC domain-containing protein 10 (sprot)


TBC20_HUMAN TBC1 domain family member 20 (sprot)


CLTR1_HUMAN Cysteinyl leukotriene receptor 1 (sprot)


TMCC1_HUMAN Transmembrane and coiled-coil domains protein 1 (sprot)


UFC1_HUMAN Ubiquitin-fold modifier-conjugating enzyme 1 (sprot)


primary cutaneous T-cell non-Hodgkin lymphoma


ENOPH_HUMAN Enolase-phosphatase E1 (sprot)


LTC4S_HUMAN Leukotriene C4 synthase (sprot)


PDE5A_HUMAN cGMP-specific 3',5'-cyclic phosphodiesterase (sprot)


RT4I1_HUMAN Reticulon-4-interacting protein 1, mitochondrial (sprot)


partial deletion of the long arm of chromosome 13


BCAT2_HUMAN Branched-chain-amino-acid aminotransferase, mitochondrial (sprot)


RNF13_HUMAN E3 ubiquitin-protein ligase RNF13 (sprot)


PTGES_HUMAN Prostaglandin E synthase (sprot)


combined oxidative phosphorylation deficiency 19


NDUA3_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 (sprot)


COQ7_HUMAN 5-demethoxyubiquinone hydroxylase, mitochondrial (sprot)


CDK1_HUMAN Cyclin-dependent kinase 1 (sprot)


STK3_HUMAN Serine/threonine-protein kinase 3 (sprot)


LYPD8_HUMAN Ly6/PLAUR domain-containing protein 8 (sprot)


LRC10_HUMAN Leucine-rich repeat-containing protein 10 (sprot)


CLK1_HUMAN Dual specificity protein kinase CLK1 (sprot)


MARCO_HUMAN Macrophage receptor MARCO (sprot)


maturity-onset diabetes of the young type 2


TIGD1_HUMAN Tigger transposable element-derived protein 1 (sprot)


DAZL_HUMAN Deleted in azoospermia-like (sprot)


AA2AR_HUMAN Adenosine receptor A2a (sprot)


RPGF6_HUMAN Rap guanine nucleotide exchange factor 6 (sprot)


NLRP1_HUMAN NACHT, LRR and PYD domains-containing protein 1 (sprot)


CSR2B_HUMAN Cysteine-rich protein 2-binding protein (sprot)


U2AF1_HUMAN Splicing factor U2AF 35 kDa subunit (sprot)


AFF2_HUMAN AF4/FMR2 family member 2 (sprot)


PCDA8_HUMAN Protocadherin alpha-8 (sprot)


KLH29_HUMAN Kelch-like protein 29 (sprot)


GOGA2_HUMAN Golgin subfamily A member 2 (sprot)


C1QL2_HUMAN Complement C1q-like protein 2 (sprot)


ATG2B_HUMAN Autophagy-related protein 2 homolog B (sprot)


NAL13_HUMAN NACHT, LRR and PYD domains-containing protein 13 (sprot)


THNS1_HUMAN Threonine synthase-like 1 (sprot)


TRIM9_HUMAN E3 ubiquitin-protein ligase TRIM9 (sprot)


NDUBA_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 (sprot)


TGM4_HUMAN Protein-glutamine gamma-glutamyltransferase 4 (sprot)


bronchiolitis obliterans with obstructive pulmonary disease


FRPD4_HUMAN FERM and PDZ domain-containing protein 4 (sprot)


APLD1_HUMAN Apolipoprotein L domain-containing protein 1 (sprot)


NSMA_HUMAN Sphingomyelin phosphodiesterase 2 (sprot)


PSA_HUMAN Puromycin-sensitive aminopeptidase (sprot)


ALLC_HUMAN Probable inactive allantoicase (sprot)


BPIFC_HUMAN BPI fold-containing family C protein (sprot)


BRD4_HUMAN Bromodomain-containing protein 4 (sprot)


COG8-congenital disorder of glycosylation


CSTFT_HUMAN Cleavage stimulation factor subunit 2 tau variant (sprot)


SAHH3_HUMAN Adenosylhomocysteinase 3 (sprot)


myopathy, lactic acidosis, and sideroblastic anemia


2A5B_HUMAN Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform (sprot)


MUTYH_HUMAN Adenine DNA glycosylase (sprot)


congenital hypotrichosis with juvenile macular dystrophy


AT1A1_HUMAN Sodium/potassium-transporting ATPase subunit alpha-1 (sprot)


congenital pulmonary airway malformation


polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG


MED8_HUMAN Mediator of RNA polymerase II transcription subunit 8 (sprot)


HSP72_HUMAN Heat shock-related 70 kDa protein 2 (sprot)


ARY2_HUMAN Arylamine N-acetyltransferase 2 (sprot)


FSP1_HUMAN Ferroptosis suppressor protein 1 (sprot)


KCTD9_HUMAN BTB/POZ domain-containing protein KCTD9 (sprot)


EF2K_HUMAN Eukaryotic elongation factor 2 kinase (sprot)


TMTC4_HUMAN Protein O-mannosyl-transferase TMTC4 (sprot)


ZO3_HUMAN Tight junction protein ZO-3 (sprot)


AHSA1_HUMAN Activator of 90 kDa heat shock protein ATPase homolog 1 (sprot)


FAKD4_HUMAN FAST kinase domain-containing protein 4 (sprot)


drug-induced autoimmune hemolytic anemia


PLAC4_HUMAN Placenta-specific protein 4 (sprot)


MEIS3_HUMAN Homeobox protein Meis3 (sprot)


BBS12_HUMAN Bardet-Biedl syndrome 12 protein (sprot)


ETV4_HUMAN ETS translocation variant 4 (sprot)


UTP23_HUMAN rRNA-processing protein UTP23 homolog (sprot)


PLCE1_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 (sprot)


RS25_HUMAN 40S ribosomal protein S25 (sprot)


MICA3_HUMAN [F-actin]-monooxygenase MICAL3 (sprot)


RUSD4_HUMAN Pseudouridylate synthase RPUSD4, mitochondrial (sprot)


STAR6_HUMAN StAR-related lipid transfer protein 6 (sprot)


GBRG1_HUMAN Gamma-aminobutyric acid receptor subunit gamma-1 (sprot)


M3K14_HUMAN Mitogen-activated protein kinase kinase kinase 14 (sprot)


IGS23_HUMAN Immunoglobulin superfamily member 23 (sprot)


GMDS_HUMAN GDP-mannose 4,6 dehydratase (sprot)


PLPR4_HUMAN Phospholipid phosphatase-related protein type 4 (sprot)


SPTN1_HUMAN Spectrin alpha chain, non-erythrocytic 1 (sprot)


PPAC_HUMAN Low molecular weight phosphotyrosine protein phosphatase (sprot)


NFIA_HUMAN Nuclear factor 1 A-type (sprot)


S5A2_HUMAN 3-oxo-5-alpha-steroid 4-dehydrogenase 2 (sprot)


SPR2G_HUMAN Small proline-rich protein 2G (sprot)


MTEF4_HUMAN Transcription termination factor 4, mitochondrial (sprot)


PNPO_HUMAN Pyridoxine-5'-phosphate oxidase (sprot)


STOX1_HUMAN Storkhead-box protein 1 (sprot)


ULK2_HUMAN Serine/threonine-protein kinase ULK2 (sprot)


nephrotic syndrome of childhood - steroid sensitive


radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome


ADCY9_HUMAN Adenylate cyclase type 9 (sprot)


H6ST1_HUMAN Heparan-sulfate 6-O-sulfotransferase 1 (sprot)


KMT2B_HUMAN Histone-lysine N-methyltransferase 2B (sprot)


SPSB2_HUMAN SPRY domain-containing SOCS box protein 2 (sprot)


WIPI1_HUMAN WD repeat domain phosphoinositide-interacting protein 1 (sprot)


LRP6_HUMAN Low-density lipoprotein receptor-related protein 6 (sprot)


TFB1M_HUMAN Dimethyladenosine transferase 1, mitochondrial (sprot)


TTYH2_HUMAN Protein tweety homolog 2 (sprot)


S22A7_HUMAN Solute carrier family 22 member 7 (sprot)


PGFRL_HUMAN Platelet-derived growth factor receptor-like protein (sprot)


PDE6B_HUMAN Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta (sprot)


PAQR3_HUMAN Progestin and adipoQ receptor family member 3 (sprot)


RRAGA_HUMAN Ras-related GTP-binding protein A (sprot)


S27A4_HUMAN Long-chain fatty acid transport protein 4 (sprot)


CHSS2_HUMAN Chondroitin sulfate synthase 2 (sprot)


CHSTA_HUMAN Carbohydrate sulfotransferase 10 (sprot)


CEA16_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 16 (sprot)


KPRP_HUMAN Keratinocyte proline-rich protein (sprot)


KCRU_HUMAN Creatine kinase U-type, mitochondrial (sprot)


CXD3_HUMAN Gap junction delta-3 protein (sprot)


S26A3_HUMAN Chloride anion exchanger (sprot)


UN13D_HUMAN Protein unc-13 homolog D (sprot)


ENOX2_HUMAN Ecto-NOX disulfide-thiol exchanger 2 (sprot)


progesterone-receptor positive breast cancer


ACINU_HUMAN Apoptotic chromatin condensation inducer in the nucleus (sprot)


RS21_HUMAN 40S ribosomal protein S21 (sprot)


DAZP2_HUMAN DAZ-associated protein 2 (sprot)


TTPAL_HUMAN Alpha-tocopherol transfer protein-like (sprot)


GRK6_HUMAN G protein-coupled receptor kinase 6 (sprot)


TRI27_HUMAN Zinc finger protein RFP (sprot)


Noonan syndrome with multiple lentigines


NBEL1_HUMAN Neurobeachin-like protein 1 (sprot)


PAB4L_HUMAN Polyadenylate-binding protein 4-like (sprot)


PAX9_HUMAN Paired box protein Pax-9 (sprot)


TTLL4_HUMAN Tubulin monoglutamylase TTLL4 (sprot)


MACF1_HUMAN Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5 (sprot)


HMHA1_HUMAN Rho GTPase-activating protein 45 (sprot)


POGZ_HUMAN Pogo transposable element with ZNF domain (sprot)


EHD3_HUMAN EH domain-containing protein 3 (sprot)


RSRC1_HUMAN Serine/Arginine-related protein 53 (sprot)


COG2_HUMAN Conserved oligomeric Golgi complex subunit 2 (sprot)


CASD1_HUMAN N-acetylneuraminate 9-O-acetyltransferase (sprot)


XDH_HUMAN Xanthine dehydrogenase/oxidase (sprot)


JAM1_HUMAN Junctional adhesion molecule A (sprot)


SIR5_HUMAN NAD-dependent protein deacylase sirtuin-5, mitochondrial (sprot)


IFI27_HUMAN Interferon alpha-inducible protein 27, mitochondrial (sprot)


C163B_HUMAN Scavenger receptor cysteine-rich type 1 protein M160 (sprot)


EXOG_HUMAN Nuclease EXOG, mitochondrial (sprot)


KCNC4_HUMAN Potassium voltage-gated channel subfamily C member 4 (sprot)


RRAS2_HUMAN Ras-related protein R-Ras2 (sprot)


HXA7_HUMAN Homeobox protein Hox-A7 (sprot)


DIAP2_HUMAN Protein diaphanous homolog 2 (sprot)


RHG21_HUMAN Rho GTPase-activating protein 21 (sprot)


ACHA2_HUMAN Neuronal acetylcholine receptor subunit alpha-2 (sprot)


GXLT1_HUMAN Glucoside xylosyltransferase 1 (sprot)


autosomal recessive distal spinal muscular atrophy 1


ISLR2_HUMAN Immunoglobulin superfamily containing leucine-rich repeat protein 2 (sprot)


IL9R_HUMAN Interleukin-9 receptor (sprot)


ARHG3_HUMAN Rho guanine nucleotide exchange factor 3 (sprot)


KCNQ4_HUMAN Potassium voltage-gated channel subfamily KQT member 4 (sprot)


RFX3_HUMAN Transcription factor RFX3 (sprot)


SREC2_HUMAN Scavenger receptor class F member 2 (sprot)


DHE3_HUMAN Glutamate dehydrogenase 1, mitochondrial (sprot)


FZR1_HUMAN Fizzy-related protein homolog (sprot)


PSA7_HUMAN Proteasome subunit alpha type-7 (sprot)


arrhythmogenic right ventricular cardiomyopathy


JCAD_HUMAN Junctional cadherin 5-associated protein (sprot)


SSR2_HUMAN Somatostatin receptor type 2 (sprot)


LOXL1_HUMAN Lysyl oxidase homolog 1 (sprot)


TMM51_HUMAN Transmembrane protein 51 (sprot)


WDR43_HUMAN WD repeat-containing protein 43 (sprot)


SPRR4_HUMAN Small proline-rich protein 4 (sprot)


GEMC1_HUMAN Geminin coiled-coil domain-containing protein 1 (sprot)


LSMD1_HUMAN N-alpha-acetyltransferase 38, NatC auxiliary subunit (sprot)


SLX1_HUMAN Structure-specific endonuclease subunit SLX1 (sprot)


PDE6A_HUMAN Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha (sprot)


nasopharyngeal type undifferentiated carcinoma


MBTP1_HUMAN Membrane-bound transcription factor site-1 protease (sprot)


FMR1_HUMAN Fragile X messenger ribonucleoprotein 1 (sprot)


PP14D_HUMAN Protein phosphatase 1 regulatory subunit 14D (sprot)


KLF9_HUMAN Krueppel-like factor 9 (sprot)


CIA2A_HUMAN Cytosolic iron-sulfur assembly component 2A (sprot)


DPY30_HUMAN Protein dpy-30 homolog (sprot)


INT7_HUMAN Integrator complex subunit 7 (sprot)


E41LB_HUMAN Band 4.1-like protein 4B (sprot)


CTAG2_HUMAN Cancer/testis antigen 2 (sprot)


MIS12_HUMAN Protein MIS12 homolog (sprot)


DKK4_HUMAN Dickkopf-related protein 4 (sprot)


intellectual disability, X-linked, syndromic, Bain type


DPA1_HUMAN HLA class II histocompatibility antigen, DP alpha 1 chain (sprot)


cerebrofacial arteriovenous metameric syndrome


hereditary sensory and autonomic neuropathy type 7


ATOH7_HUMAN Transcription factor ATOH7 (sprot)


HMGN4_HUMAN High mobility group nucleosome-binding domain-containing protein 4 (sprot)


BATF2_HUMAN Basic leucine zipper transcriptional factor ATF-like 2 (sprot)


KCNQ5_HUMAN Potassium voltage-gated channel subfamily KQT member 5 (sprot)


ATP5H_HUMAN ATP synthase subunit d, mitochondrial (sprot)


CDN2C_HUMAN Cyclin-dependent kinase 4 inhibitor C (sprot)


PER1_HUMAN Period circadian protein homolog 1 (sprot)


SCHI1_HUMAN Schwannomin-interacting protein 1 (sprot)


GLT13_HUMAN Polypeptide N-acetylgalactosaminyltransferase 13 (sprot)


RALB_HUMAN Ras-related protein Ral-B (sprot)


ZN552_HUMAN Zinc finger protein 552 (sprot)


intervertebral disc degenerative disorder


S7A14_HUMAN Probable cationic amino acid transporter (sprot)


PPGB_HUMAN Lysosomal protective protein (sprot)


CP21A_HUMAN Steroid 21-hydroxylase (sprot)


HMCS1_HUMAN Hydroxymethylglutaryl-CoA synthase, cytoplasmic (sprot)


UNG_HUMAN Uracil-DNA glycosylase (sprot)


CSMD3_HUMAN CUB and sushi domain-containing protein 3 (sprot)


TM7S3_HUMAN Transmembrane 7 superfamily member 3 (sprot)


K1H2_HUMAN Keratin, type I cuticular Ha2 (sprot)


ACOT2_HUMAN Acyl-coenzyme A thioesterase 2, mitochondrial (sprot)


UTP20_HUMAN Small subunit processome component 20 homolog (sprot)


HDHD2_HUMAN Haloacid dehalogenase-like hydrolase domain-containing protein 2 (sprot)


GPM6A_HUMAN Neuronal membrane glycoprotein M6-a (sprot)


NEMP1_HUMAN Nuclear envelope integral membrane protein 1 (sprot)


URM1_HUMAN Ubiquitin-related modifier 1 (sprot)


ASB4_HUMAN Ankyrin repeat and SOCS box protein 4 (sprot)


PTGR2_HUMAN Prostaglandin reductase 2 (sprot)


CDNF_HUMAN Cerebral dopamine neurotrophic factor (sprot)


CAPS1_HUMAN Calcium-dependent secretion activator 1 (sprot)


GTPB2_HUMAN GTP-binding protein 2 (sprot)


VGLL4_HUMAN Transcription cofactor vestigial-like protein 4 (sprot)


SHAN1_HUMAN SH3 and multiple ankyrin repeat domains protein 1 (sprot)


SMYD2_HUMAN N-lysine methyltransferase SMYD2 (sprot)


KCNQ1_HUMAN Potassium voltage-gated channel subfamily KQT member 1 (sprot)


FKBPL_HUMAN FK506-binding protein-like (sprot)


RHOU_HUMAN Rho-related GTP-binding protein RhoU (sprot)


ACHB3_HUMAN Neuronal acetylcholine receptor subunit beta-3 (sprot)


KCJ15_HUMAN ATP-sensitive inward rectifier potassium channel 15 (sprot)


FHOD3_HUMAN FH1/FH2 domain-containing protein 3 (sprot)


MINK1_HUMAN Misshapen-like kinase 1 (sprot)


DDX43_HUMAN Probable ATP-dependent RNA helicase DDX43 (sprot)


MRAP_HUMAN Melanocortin-2 receptor accessory protein (sprot)


EDC4_HUMAN Enhancer of mRNA-decapping protein 4 (sprot)


NB5R2_HUMAN NADH-cytochrome b5 reductase 2 (sprot)


TGFA_HUMAN Protransforming growth factor alpha (sprot)


PLCD_HUMAN 1-acyl-sn-glycerol-3-phosphate acyltransferase delta (sprot)


4F2_HUMAN 4F2 cell-surface antigen heavy chain (sprot)


BEND5_HUMAN BEN domain-containing protein 5 (sprot)


LST2_HUMAN Lateral signaling target protein 2 homolog (sprot)


HESX1_HUMAN Homeobox expressed in ES cells 1 (sprot)


ITIH2_HUMAN Inter-alpha-trypsin inhibitor heavy chain H2 (sprot)


AVR2A_HUMAN Activin receptor type-2A (sprot)


BAG1_HUMAN BAG family molecular chaperone regulator 1 (sprot)


TM119_HUMAN Transmembrane protein 119 (sprot)


LBX2_HUMAN Transcription factor LBX2 (sprot)


GADL1_HUMAN Acidic amino acid decarboxylase GADL1 (sprot)


RX_HUMAN Retinal homeobox protein Rx (sprot)


DISC1_HUMAN Disrupted in schizophrenia 1 protein (sprot)


SYSM_HUMAN Serine--tRNA ligase, mitochondrial (sprot)


AP4S1_HUMAN AP-4 complex subunit sigma-1 (sprot)


juvenile type testicular granulosa cell tumor


autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency


PRPK_HUMAN EKC/KEOPS complex subunit TP53RK (sprot)


HERC4_HUMAN Probable E3 ubiquitin-protein ligase HERC4 (sprot)


UCK2_HUMAN Uridine-cytidine kinase 2 (sprot)


NUP88_HUMAN Nuclear pore complex protein Nup88 (sprot)


SOX8_HUMAN Transcription factor SOX-8 (sprot)


RAC2_HUMAN Ras-related C3 botulinum toxin substrate 2 (sprot)


MBLC1_HUMAN Metallo-beta-lactamase domain-containing protein 1 (sprot)


idiopathic hypersomnia without long sleep time


PGM1-congenital disorder of glycosylation


ZEP2_HUMAN Transcription factor HIVEP2 (sprot)


TPC12_HUMAN Trafficking protein particle complex subunit 12 (sprot)


HXC4_HUMAN Homeobox protein Hox-C4 (sprot)


SH23A_HUMAN SH2 domain-containing protein 3A (sprot)


ASML_HUMAN Probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein (sprot)


HS12B_HUMAN Heat shock 70 kDa protein 12B (sprot)


S38A2_HUMAN Sodium-coupled neutral amino acid symporter 2 (sprot)


UBE2H_HUMAN Ubiquitin-conjugating enzyme E2 H (sprot)


TA2R8_HUMAN Taste receptor type 2 member 8 (sprot)


S20A2_HUMAN Sodium-dependent phosphate transporter 2 (sprot)


CC110_HUMAN Coiled-coil domain-containing protein 110 (sprot)


TPC2_HUMAN Two pore channel protein 2 (sprot)


PO2F3_HUMAN POU domain, class 2, transcription factor 3 (sprot)


CCGL_HUMAN Voltage-dependent calcium channel gamma-like subunit (sprot)


FEZ2_HUMAN Fasciculation and elongation protein zeta-2 (sprot)


Dianzani autoimmune lymphoproliferative disease


ZNF34_HUMAN Zinc finger protein 34 (sprot)


TF3C1_HUMAN General transcription factor 3C polypeptide 1 (sprot)


early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome


STB5L_HUMAN Syntaxin-binding protein 5-like (sprot)


UBP2L_HUMAN Ubiquitin-associated protein 2-like (sprot)


WDFY2_HUMAN WD repeat and FYVE domain-containing protein 2 (sprot)


ZNF35_HUMAN Zinc finger protein 35 (sprot)


PAX7_HUMAN Paired box protein Pax-7 (sprot)


MYL9_HUMAN Myosin regulatory light polypeptide 9 (sprot)


FGD5_HUMAN FYVE, RhoGEF and PH domain-containing protein 5 (sprot)


FCGBP_HUMAN IgGFc-binding protein (sprot)


MAG_HUMAN Myelin-associated glycoprotein (sprot)


GT252_HUMAN Procollagen galactosyltransferase 2 (sprot)


ZN702_HUMAN Putative zinc finger protein 702 (sprot)


RAD1_HUMAN Cell cycle checkpoint protein RAD1 (sprot)


SCUB2_HUMAN Signal peptide, CUB and EGF-like domain-containing protein 2 (sprot)


PPT2_HUMAN Lysosomal thioesterase PPT2 (sprot)


cleft lip/palate-ectodermal dysplasia syndrome


SMCR8_HUMAN Guanine nucleotide exchange protein SMCR8 (sprot)


TB182_HUMAN 182 kDa tankyrase-1-binding protein (sprot)


congenital disorder of glycosylation, type IAA


KCC2B_HUMAN Calcium/calmodulin-dependent protein kinase type II subunit beta (sprot)


RS15_HUMAN 40S ribosomal protein S15 (sprot)


autosomal recessive proximal renal tubular acidosis


AR2BP_HUMAN ADP-ribosylation factor-like protein 2-binding protein (sprot)


PTPRH_HUMAN Receptor-type tyrosine-protein phosphatase H (sprot)


KCNA2_HUMAN Potassium voltage-gated channel subfamily A member 2 (sprot)


CNPY2_HUMAN Protein canopy homolog 2 (sprot)


CCD22_HUMAN Coiled-coil domain-containing protein 22 (sprot)


MPIP1_HUMAN M-phase inducer phosphatase 1 (sprot)


PARP1_HUMAN Poly [ADP-ribose] polymerase 1 (sprot)


SRS11_HUMAN Serine/arginine-rich splicing factor 11 (sprot)


ACOT4_HUMAN Peroxisomal succinyl-coenzyme A thioesterase (sprot)


YAP1_HUMAN Transcriptional coactivator YAP1 (sprot)


congenital fibrosis of extraocular muscles type 1


SERC_HUMAN Phosphoserine aminotransferase (sprot)


T-cell large granular lymphocyte leukemia


early-onset cerebellar ataxia with retained tendon reflexes


GPR45_HUMAN Probable G-protein coupled receptor 45 (sprot)


AIDA_HUMAN Axin interactor, dorsalization-associated protein (sprot)


LRRN1_HUMAN Leucine-rich repeat neuronal protein 1 (sprot)


DZAN1_HUMAN Double zinc ribbon and ankyrin repeat-containing protein 1 (sprot)


TM11A_HUMAN Transmembrane protease serine 11A (sprot)


THB_HUMAN Thyroid hormone receptor beta (sprot)


autosomal recessive nonsyndromic hearing loss 59


MCES_HUMAN mRNA cap guanine-N7 methyltransferase (sprot)


NFAC1_HUMAN Nuclear factor of activated T-cells, cytoplasmic 1 (sprot)


M4A8_HUMAN Membrane-spanning 4-domains subfamily A member 8 (sprot)


DPOLQ_HUMAN DNA polymerase theta (sprot)


FACD2_HUMAN Fanconi anemia group D2 protein (sprot)


NR4A1_HUMAN Nuclear receptor subfamily 4 group A member 1 (sprot)


DYH2_HUMAN Dynein axonemal heavy chain 2 (sprot)


U17L2_HUMAN Ubiquitin carboxyl-terminal hydrolase 17 (sprot)


KANK2_HUMAN KN motif and ankyrin repeat domain-containing protein 2 (sprot)


RUNX1_HUMAN Runt-related transcription factor 1 (sprot)


AT2B4_HUMAN Plasma membrane calcium-transporting ATPase 4 (sprot)


OCAD2_HUMAN OCIA domain-containing protein 2 (sprot)


SP130_HUMAN Histone deacetylase complex subunit SAP130 (sprot)


STAT1_HUMAN Signal transducer and activator of transcription 1-alpha/beta (sprot)


CDC42_HUMAN Cell division control protein 42 homolog (sprot)


ZFAN4_HUMAN AN1-type zinc finger protein 4 (sprot)


CBG_HUMAN Corticosteroid-binding globulin (sprot)


SPCS3_HUMAN Signal peptidase complex subunit 3 (sprot)


X-linked hypohidrotic ectodermal dysplasia


HEBP2_HUMAN Heme-binding protein 2 (sprot)


RAB21_HUMAN Ras-related protein Rab-21 (sprot)


FPGT_HUMAN Fucose-1-phosphate guanylyltransferase (sprot)


SCO1_HUMAN Protein SCO1 homolog, mitochondrial (sprot)


PSME3_HUMAN Proteasome activator complex subunit 3 (sprot)


MOXD1_HUMAN DBH-like monooxygenase protein 1 (sprot)


FGFR3_HUMAN Fibroblast growth factor receptor 3 (sprot)


TNFL9_HUMAN Tumor necrosis factor ligand superfamily member 9 (sprot)


MRC1_HUMAN Macrophage mannose receptor 1 (sprot)


PTSS2_HUMAN Phosphatidylserine synthase 2 (sprot)


SBDS_HUMAN Ribosome maturation protein SBDS (sprot)


RASEF_HUMAN Ras and EF-hand domain-containing protein (sprot)


TMC5A_HUMAN Transmembrane and coiled-coil domain-containing protein 5A (sprot)


NDUC2_HUMAN NADH dehydrogenase [ubiquinone] 1 subunit C2 (sprot)


NEIL3_HUMAN Endonuclease 8-like 3 (sprot)


GP1BB_HUMAN Platelet glycoprotein Ib beta chain (sprot)


ECHA_HUMAN Trifunctional enzyme subunit alpha, mitochondrial (sprot)


KCNQ2_HUMAN Potassium voltage-gated channel subfamily KQT member 2 (sprot)


EP3A_HUMAN Epididymal secretory protein E3-alpha (sprot)


CLC3A_HUMAN C-type lectin domain family 3 member A (sprot)


CHCH2_HUMAN Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 (sprot)


AT134_HUMAN Probable cation-transporting ATPase 13A4 (sprot)


DHX9_HUMAN ATP-dependent RNA helicase A (sprot)


FXYD4_HUMAN FXYD domain-containing ion transport regulator 4 (sprot)


ZDHC7_HUMAN Palmitoyltransferase ZDHHC7 (sprot)


AN32D_HUMAN Acidic leucine-rich nuclear phosphoprotein 32 family member D (sprot)


CNO10_HUMAN CCR4-NOT transcription complex subunit 10 (sprot)


GPAT2_HUMAN Glycerol-3-phosphate acyltransferase 2, mitochondrial (sprot)


CL3L1_HUMAN C-C motif chemokine 3-like 1 (sprot)


YLAT1_HUMAN Y+L amino acid transporter 1 (sprot)


KLH14_HUMAN Kelch-like protein 14 (sprot)


XPR1_HUMAN Xenotropic and polytropic retrovirus receptor 1 (sprot)


RTL1_HUMAN Retrotransposon-like protein 1 (sprot)


developmental and epileptic encephalopathy, 39


BPIB3_HUMAN BPI fold-containing family B member 3 (sprot)


STK10_HUMAN Serine/threonine-protein kinase 10 (sprot)


TIE1_HUMAN Tyrosine-protein kinase receptor Tie-1 (sprot)


MK13_HUMAN Mitogen-activated protein kinase 13 (sprot)


VPP1_HUMAN V-type proton ATPase 116 kDa subunit a 1 (sprot)


GP151_HUMAN G-protein coupled receptor 151 (sprot)


ANGL5_HUMAN Angiopoietin-related protein 5 (sprot)


PTPRS_HUMAN Receptor-type tyrosine-protein phosphatase S (sprot)


FBX39_HUMAN F-box only protein 39 (sprot)


FGF6_HUMAN Fibroblast growth factor 6 (sprot)


NU133_HUMAN Nuclear pore complex protein Nup133 (sprot)


SC6A5_HUMAN Sodium- and chloride-dependent glycine transporter 2 (sprot)


LMBL3_HUMAN Lethal(3)malignant brain tumor-like protein 3 (sprot)


MYO10_HUMAN Unconventional myosin-X (sprot)


ALG14_HUMAN UDP-N-acetylglucosamine transferase subunit ALG14 homolog (sprot)


AP3M1_HUMAN AP-3 complex subunit mu-1 (sprot)


LRC46_HUMAN Leucine-rich repeat-containing protein 46 (sprot)


PI4P2_HUMAN Putative phosphatidylinositol 4-kinase alpha-like protein P2 (sprot)


NHLC1_HUMAN E3 ubiquitin-protein ligase NHLRC1 (sprot)


APEX1_HUMAN DNA-(apurinic or apyrimidinic site) endonuclease (sprot)


KELL_HUMAN Kell blood group glycoprotein (sprot)


PITH1_HUMAN PITH domain-containing protein 1 (sprot)


MCCB_HUMAN Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (sprot)


MSRB3_HUMAN Methionine-R-sulfoxide reductase B3 (sprot)


GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 1 (sprot)


HMGX4_HUMAN HMG domain-containing protein 4 (sprot)


NOP16_HUMAN Nucleolar protein 16 (sprot)


PF2R_HUMAN Prostaglandin F2-alpha receptor (sprot)


ADA10_HUMAN Disintegrin and metalloproteinase domain-containing protein 10 (sprot)


autoimmune disorder of central nervous system


FGF14_HUMAN Fibroblast growth factor 14 (sprot)


LRA25_HUMAN Leucine repeat adapter protein 25 (sprot)


LELP1_HUMAN Late cornified envelope-like proline-rich protein 1 (sprot)


GROA_HUMAN Growth-regulated alpha protein (sprot)


TBX5_HUMAN T-box transcription factor TBX5 (sprot)


TOPRS_HUMAN E3 ubiquitin-protein ligase Topors (sprot)


COQ8A_HUMAN Atypical kinase COQ8A, mitochondrial (sprot)


ARHG7_HUMAN Rho guanine nucleotide exchange factor 7 (sprot)


GRM8_HUMAN Metabotropic glutamate receptor 8 (sprot)


KAT6A_HUMAN Histone acetyltransferase KAT6A (sprot)


PAHO_HUMAN Pancreatic prohormone (sprot)


GA45A_HUMAN Growth arrest and DNA damage-inducible protein GADD45 alpha (sprot)


AGRG3_HUMAN Adhesion G protein-coupled receptor G3 (sprot)


non-functional pancreatic neuroendocrine tumor


FGF9_HUMAN Fibroblast growth factor 9 (sprot)


CLCA1_HUMAN Calcium-activated chloride channel regulator 1 (sprot)


MIF_HUMAN Macrophage migration inhibitory factor (sprot)


MTMRA_HUMAN Myotubularin-related protein 10 (sprot)


UBE4B_HUMAN Ubiquitin conjugation factor E4 B (sprot)


PDE4B_HUMAN cAMP-specific 3',5'-cyclic phosphodiesterase 4B (sprot)


ACHA_HUMAN Acetylcholine receptor subunit alpha (sprot)


POP1_HUMAN Ribonucleases P/MRP protein subunit POP1 (sprot)


MA1B1_HUMAN Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (sprot)


SPRL1_HUMAN SPARC-like protein 1 (sprot)


rheumatoid factor-negative juvenile idiopathic arthritis


RGPS2_HUMAN Ras-specific guanine nucleotide-releasing factor RalGPS2 (sprot)


MOT4_HUMAN Monocarboxylate transporter 4 (sprot)


RAX2_HUMAN Retina and anterior neural fold homeobox protein 2 (sprot)


UBX2A_HUMAN UBX domain-containing protein 2A (sprot)


CAC1D_HUMAN Voltage-dependent L-type calcium channel subunit alpha-1D (sprot)


TARM1_HUMAN T-cell-interacting, activating receptor on myeloid cells protein 1 (sprot)


PNMA1_HUMAN Paraneoplastic antigen Ma1 (sprot)


Pelizaeus-Merzbacher disease, classic form


LIRA1_HUMAN Leukocyte immunoglobulin-like receptor subfamily A member 1 (sprot)


TNR21_HUMAN Tumor necrosis factor receptor superfamily member 21 (sprot)


ARRD5_HUMAN Arrestin domain-containing protein 5 (sprot)


AT2C1_HUMAN Calcium-transporting ATPase type 2C member 1 (sprot)


CCN6_HUMAN Cellular communication network factor 6 (sprot)


TRAF1_HUMAN TNF receptor-associated factor 1 (sprot)


GDC_HUMAN Solute carrier family 25 member 16 (sprot)


NACAM_HUMAN Nascent polypeptide-associated complex subunit alpha, muscle-specific form (sprot)


ERGI2_HUMAN Endoplasmic reticulum-Golgi intermediate compartment protein 2 (sprot)


HGFA_HUMAN Hepatocyte growth factor activator (sprot)


CHSS3_HUMAN Chondroitin sulfate synthase 3 (sprot)


XK_HUMAN Endoplasmic reticulum membrane adapter protein XK (sprot)


LOXL4_HUMAN Lysyl oxidase homolog 4 (sprot)


LRRK2_HUMAN Leucine-rich repeat serine/threonine-protein kinase 2 (sprot)


RN135_HUMAN E3 ubiquitin-protein ligase RNF135 (sprot)


GPR52_HUMAN G-protein coupled receptor 52 (sprot)


NKX22_HUMAN Homeobox protein Nkx-2.2 (sprot)


STAR8_HUMAN StAR-related lipid transfer protein 8 (sprot)


FASTK_HUMAN Fas-activated serine/threonine kinase (sprot)


FBXW4_HUMAN F-box/WD repeat-containing protein 4 (sprot)


SDE2_HUMAN Replication stress response regulator SDE2 (sprot)


AT2L2_HUMAN 5-phosphohydroxy-L-lysine phospho-lyase (sprot)


THOC7_HUMAN THO complex subunit 7 homolog (sprot)


DCR1A_HUMAN DNA cross-link repair 1A protein (sprot)


TBA1A_HUMAN Tubulin alpha-1A chain (sprot)


NPAS4_HUMAN Neuronal PAS domain-containing protein 4 (sprot)


NFAM1_HUMAN NFAT activation molecule 1 (sprot)


VPS18_HUMAN Vacuolar protein sorting-associated protein 18 homolog (sprot)


FBX24_HUMAN F-box only protein 24 (sprot)


GPX5_HUMAN Epididymal secretory glutathione peroxidase (sprot)


SH3B4_HUMAN SH3 domain-binding protein 4 (sprot)


ACACB_HUMAN Acetyl-CoA carboxylase 2 (sprot)


TTK_HUMAN Dual specificity protein kinase TTK (sprot)


MLP3A_HUMAN Microtubule-associated proteins 1A/1B light chain 3A (sprot)


KI3L1_HUMAN Killer cell immunoglobulin-like receptor 3DL1 (sprot)


SH2D3_HUMAN SH2 domain-containing protein 3C (sprot)


MNT_HUMAN Max-binding protein MNT (sprot)


PLCA_HUMAN 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha (sprot)


STML3_HUMAN Stomatin-like protein 3 (sprot)


NHS_HUMAN Actin remodeling regulator NHS (sprot)


NBEL2_HUMAN Neurobeachin-like protein 2 (sprot)


NDST3_HUMAN Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 (sprot)


FKBP9_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP9 (sprot)


TGIF2_HUMAN Homeobox protein TGIF2 (sprot)


VNN2_HUMAN Pantetheine hydrolase VNN2 (sprot)


CPSF7_HUMAN Cleavage and polyadenylation specificity factor subunit 7 (sprot)


RBP1_HUMAN RalA-binding protein 1 (sprot)


KRT34_HUMAN Keratin, type I cuticular Ha4 (sprot)


AKIP1_HUMAN A-kinase-interacting protein 1 (sprot)


KPCZ_HUMAN Protein kinase C zeta type (sprot)


GLT12_HUMAN Polypeptide N-acetylgalactosaminyltransferase 12 (sprot)


MYOD1_HUMAN Myoblast determination protein 1 (sprot)


RET5_HUMAN Retinol-binding protein 5 (sprot)


RARB_HUMAN Retinoic acid receptor beta (sprot)


EBP2_HUMAN Probable rRNA-processing protein EBP2 (sprot)


GORS2_HUMAN Golgi reassembly-stacking protein 2 (sprot)


CIP4_HUMAN Cdc42-interacting protein 4 (sprot)


DYT2B_HUMAN Dynein light chain Tctex-type protein 2B (sprot)


CHD8_HUMAN Chromodomain-helicase-DNA-binding protein 8 (sprot)


TI17A_HUMAN Mitochondrial import inner membrane translocase subunit Tim17-A (sprot)


PIF1_HUMAN ATP-dependent DNA helicase PIF1 (sprot)


ALDOA_HUMAN Fructose-bisphosphate aldolase A (sprot)


LMCD1_HUMAN LIM and cysteine-rich domains protein 1 (sprot)


CO9A3_HUMAN Collagen alpha-3(IX) chain (sprot)


CC103_HUMAN Coiled-coil domain-containing protein 103 (sprot)


HAUS1_HUMAN HAUS augmin-like complex subunit 1 (sprot)


CLC7A_HUMAN C-type lectin domain family 7 member A (sprot)


CLCA_HUMAN Clathrin light chain A (sprot)


CCD43_HUMAN Coiled-coil domain-containing protein 43 (sprot)


FXL12_HUMAN F-box/LRR-repeat protein 12 (sprot)


SLD5_HUMAN DNA replication complex GINS protein SLD5 (sprot)


SAP3_HUMAN Ganglioside GM2 activator (sprot)


ARK72_HUMAN Aflatoxin B1 aldehyde reductase member 2 (sprot)


GTR1_HUMAN Solute carrier family 2, facilitated glucose transporter member 1 (sprot)


SGSM1_HUMAN Small G protein signaling modulator 1 (sprot)


VATE2_HUMAN V-type proton ATPase subunit E 2 (sprot)


FKB10_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP10 (sprot)


MFAP1_HUMAN Microfibrillar-associated protein 1 (sprot)


RFOX2_HUMAN RNA binding protein fox-1 homolog 2 (sprot)


SAP30_HUMAN Histone deacetylase complex subunit SAP30 (sprot)


DLGP5_HUMAN Disks large-associated protein 5 (sprot)


TRIM4_HUMAN E3 ubiquitin-protein ligase TRIM4 (sprot)


EIF1A_HUMAN Probable RNA-binding protein EIF1AD (sprot)


NIPA3_HUMAN Magnesium transporter NIPA3 (sprot)


LRRN4_HUMAN Leucine-rich repeat neuronal protein 4 (sprot)


CX7A1_HUMAN Cytochrome c oxidase subunit 7A1, mitochondrial (sprot)


CDHR1_HUMAN Cadherin-related family member 1 (sprot)


CTL1_HUMAN Choline transporter-like protein 1 (sprot)


REC8_HUMAN Meiotic recombination protein REC8 homolog (sprot)


SUN5_HUMAN SUN domain-containing protein 5 (sprot)


NEUL1_HUMAN E3 ubiquitin-protein ligase NEURL1 (sprot)


FRPD2_HUMAN FERM and PDZ domain-containing protein 2 (sprot)


WRN_HUMAN Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN (sprot)


ANFB_HUMAN Natriuretic peptides B (sprot)


KCJ11_HUMAN ATP-sensitive inward rectifier potassium channel 11 (sprot)


OCTC_HUMAN Peroxisomal carnitine O-octanoyltransferase (sprot)


benign recurrent intrahepatic cholestasis


S52A2_HUMAN Solute carrier family 52, riboflavin transporter, member 2 (sprot)


TUSC1_HUMAN Tumor suppressor candidate gene 1 protein (sprot)


TIMP4_HUMAN Metalloproteinase inhibitor 4 (sprot)


autosomal dominant cerebellar ataxia, deafness and narcolepsy


GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 3 (sprot)


HDX_HUMAN Highly divergent homeobox (sprot)


multilocular clear cell renal cell carcinoma


AOFA_HUMAN Amine oxidase [flavin-containing] A (sprot)


CD1D_HUMAN Antigen-presenting glycoprotein CD1d (sprot)


CAR18_HUMAN Caspase recruitment domain-containing protein 18 (sprot)


PAK1_HUMAN Serine/threonine-protein kinase PAK 1 (sprot)


FAKD5_HUMAN FAST kinase domain-containing protein 5, mitochondrial (sprot)


NR1H3_HUMAN Oxysterols receptor LXR-alpha (sprot)


skeletal dysplasia-intellectual disability syndrome


ACATN_HUMAN Acetyl-coenzyme A transporter 1 (sprot)


DMA_HUMAN HLA class II histocompatibility antigen, DM alpha chain (sprot)


ACSL6_HUMAN Long-chain-fatty-acid--CoA ligase 6 (sprot)


SOSD1_HUMAN Sclerostin domain-containing protein 1 (sprot)


TGM2_HUMAN Protein-glutamine gamma-glutamyltransferase 2 (sprot)


congenital hypothalamic hamartoma syndrome


GASP2_HUMAN G-protein coupled receptor-associated sorting protein 2 (sprot)


spinal cord primitive neuroectodermal tumor


KCNN2_HUMAN Small conductance calcium-activated potassium channel protein 2 (sprot)


HLAE_HUMAN HLA class I histocompatibility antigen, alpha chain E (sprot)


LPAR6_HUMAN Lysophosphatidic acid receptor 6 (sprot)


COX20_HUMAN Cytochrome c oxidase assembly protein COX20, mitochondrial (sprot)


CAR16_HUMAN Caspase recruitment domain-containing protein 16 (sprot)


KCJ18_HUMAN Inward rectifier potassium channel 18 (sprot)


KIF11_HUMAN Kinesin-like protein KIF11 (sprot)


CIDEB_HUMAN Cell death activator CIDE-B (sprot)


NRF1_HUMAN Nuclear respiratory factor 1 (sprot)


PDLI2_HUMAN PDZ and LIM domain protein 2 (sprot)


GLT15_HUMAN Polypeptide N-acetylgalactosaminyltransferase 15 (sprot)


UBA3_HUMAN NEDD8-activating enzyme E1 catalytic subunit (sprot)


familial juvenile hyperuricemic nephropathy type 1


carcinoma of liver and intrahepatic biliary tract


UBP48_HUMAN Ubiquitin carboxyl-terminal hydrolase 48 (sprot)


SPT5H_HUMAN Transcription elongation factor SPT5 (sprot)


SRP72_HUMAN Signal recognition particle subunit SRP72 (sprot)


MTMR6_HUMAN Myotubularin-related protein 6 (sprot)


RB27A_HUMAN Ras-related protein Rab-27A (sprot)


GP146_HUMAN Probable G-protein coupled receptor 146 (sprot)


S15A1_HUMAN Solute carrier family 15 member 1 (sprot)


DCAM_HUMAN S-adenosylmethionine decarboxylase proenzyme (sprot)


IQGA3_HUMAN Ras GTPase-activating-like protein IQGAP3 (sprot)


LAT3_HUMAN Large neutral amino acids transporter small subunit 3 (sprot)


TBX18_HUMAN T-box transcription factor TBX18 (sprot)


APH1A_HUMAN Gamma-secretase subunit APH-1A (sprot)


MFAP2_HUMAN Microfibrillar-associated protein 2 (sprot)


TNNI2_HUMAN Troponin I, fast skeletal muscle (sprot)


PMYT1_HUMAN Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase (sprot)


FBX22_HUMAN F-box only protein 22 (sprot)


GDAP2_HUMAN Ganglioside-induced differentiation-associated protein 2 (sprot)


BHA15_HUMAN Class A basic helix-loop-helix protein 15 (sprot)


SUFU_HUMAN Suppressor of fused homolog (sprot)


GDAP1_HUMAN Ganglioside-induced differentiation-associated protein 1 (sprot)


B3GA3_HUMAN Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (sprot)


RTP1_HUMAN Receptor-transporting protein 1 (sprot)


GDIA_HUMAN Rab GDP dissociation inhibitor alpha (sprot)


RBM43_HUMAN RNA-binding protein 43 (sprot)


GALT1_HUMAN Polypeptide N-acetylgalactosaminyltransferase 1 (sprot)


congenital contractures of the limbs and face, hypotonia, and developmental delay


MOT8_HUMAN Monocarboxylate transporter 8 (sprot)


CSN4_HUMAN COP9 signalosome complex subunit 4 (sprot)


chronic inflammatory demyelinating polyradiculoneuropathy


CD28_HUMAN T-cell-specific surface glycoprotein CD28 (sprot)


NKTR_HUMAN NK-tumor recognition protein (sprot)


LRC15_HUMAN Leucine-rich repeat-containing protein 15 (sprot)


RASF6_HUMAN Ras association domain-containing protein 6 (sprot)


P3C2G_HUMAN Phosphatidylinositol 3-kinase C2 domain-containing subunit gamma (sprot)


PHAX_HUMAN Phosphorylated adapter RNA export protein (sprot)


fibrosis, neurodegeneration, and cerebral angiomatosis


CISY_HUMAN Citrate synthase, mitochondrial (sprot)


SBK1_HUMAN Serine/threonine-protein kinase SBK1 (sprot)


cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome


ADCY7_HUMAN Adenylate cyclase type 7 (sprot)


HERC2_HUMAN E3 ubiquitin-protein ligase HERC2 (sprot)


LIMD1_HUMAN LIM domain-containing protein 1 (sprot)


CEBPE_HUMAN CCAAT/enhancer-binding protein epsilon (sprot)


MIS_HUMAN Muellerian-inhibiting factor (sprot)


familial thoracic aortic aneurysm and aortic dissection


SRCH_HUMAN Sarcoplasmic reticulum histidine-rich calcium-binding protein (sprot)


RTP3_HUMAN Receptor-transporting protein 3 (sprot)


ACTA_HUMAN Actin, aortic smooth muscle (sprot)


CXE1_HUMAN Putative gap junction epsilon-1 protein (sprot)


TNR6_HUMAN Tumor necrosis factor receptor superfamily member 6 (sprot)


FARP1_HUMAN FERM, ARHGEF and pleckstrin domain-containing protein 1 (sprot)


autosomal recessive limb-girdle muscular dystrophy type 2C


PISD_HUMAN Phosphatidylserine decarboxylase proenzyme, mitochondrial (sprot)


MPU1_HUMAN Mannose-P-dolichol utilization defect 1 protein (sprot)


SIA8C_HUMAN Sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase (sprot)


TNNC2_HUMAN Troponin C, skeletal muscle (sprot)


UBA5_HUMAN Ubiquitin-like modifier-activating enzyme 5 (sprot)


MAGE1_HUMAN Melanoma-associated antigen E1 (sprot)


ASIC3_HUMAN Acid-sensing ion channel 3 (sprot)


ZKSC7_HUMAN Zinc finger protein with KRAB and SCAN domains 7 (sprot)


SWAHC_HUMAN Ankyrin repeat domain-containing protein SOWAHC (sprot)


digestive system neuroendocrine neoplasm


GRSF1_HUMAN G-rich sequence factor 1 (sprot)


KINH_HUMAN Kinesin-1 heavy chain (sprot)


PLCE_HUMAN 1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon (sprot)


ATIF1_HUMAN ATPase inhibitor, mitochondrial (sprot)


MCM4_HUMAN DNA replication licensing factor MCM4 (sprot)


KMCP1_HUMAN Kidney mitochondrial carrier protein 1 (sprot)


ZHANG_HUMAN CREB/ATF bZIP transcription factor (sprot)


DDIT4_HUMAN DNA damage-inducible transcript 4 protein (sprot)


CELF4_HUMAN CUGBP Elav-like family member 4 (sprot)


RBM45_HUMAN RNA-binding protein 45 (sprot)


PI5L1_HUMAN Phosphatidylinositol 4-phosphate 5-kinase-like protein 1 (sprot)


CDK6_HUMAN Cyclin-dependent kinase 6 (sprot)


GOLM1_HUMAN Golgi membrane protein 1 (sprot)


SVEP1_HUMAN Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 (sprot)


TF2AY_HUMAN TFIIA-alpha and beta-like factor (sprot)


ST32C_HUMAN Serine/threonine-protein kinase 32C (sprot)


CDCA4_HUMAN Cell division cycle-associated protein 4 (sprot)


UBP46_HUMAN Ubiquitin carboxyl-terminal hydrolase 46 (sprot)


GPC5C_HUMAN G-protein coupled receptor family C group 5 member C (sprot)


NEUT_HUMAN Neurotensin/neuromedin N (sprot)


CO6A5_HUMAN Collagen alpha-5(VI) chain (sprot)


DESI2_HUMAN Deubiquitinase DESI2 (sprot)


ACVR1_HUMAN Activin receptor type-1 (sprot)


PGRP4_HUMAN Peptidoglycan recognition protein 4 (sprot)


FGF2_HUMAN Fibroblast growth factor 2 (sprot)


TCAF2_HUMAN TRPM8 channel-associated factor 2 (sprot)


MED6_HUMAN Mediator of RNA polymerase II transcription subunit 6 (sprot)


BL1S1_HUMAN Biogenesis of lysosome-related organelles complex 1 subunit 1 (sprot)


IGFL3_HUMAN Insulin growth factor-like family member 3 (sprot)


RS7_HUMAN 40S ribosomal protein S7 (sprot)


TZAP_HUMAN Telomere zinc finger-associated protein (sprot)


MELT_HUMAN Ventricular zone-expressed PH domain-containing protein homolog 1 (sprot)


STAM2_HUMAN Signal transducing adapter molecule 2 (sprot)


GEMI7_HUMAN Gem-associated protein 7 (sprot)


UGDH_HUMAN UDP-glucose 6-dehydrogenase (sprot)


CIA2B_HUMAN Cytosolic iron-sulfur assembly component 2B (sprot)


HMGB1_HUMAN High mobility group protein B1 (sprot)


MTG1_HUMAN Mitochondrial ribosome-associated GTPase 1 (sprot)


METL8_HUMAN tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial (sprot)


RNF38_HUMAN E3 ubiquitin-protein ligase RNF38 (sprot)


FRMD5_HUMAN FERM domain-containing protein 5 (sprot)


K22E_HUMAN Keratin, type II cytoskeletal 2 epidermal (sprot)


MPRI_HUMAN Cation-independent mannose-6-phosphate receptor (sprot)


autosomal dominant nonsyndromic hearing loss 36


SASH1_HUMAN SAM and SH3 domain-containing protein 1 (sprot)


ASAP1_HUMAN Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 (sprot)


prolactin-producing pituitary gland carcinoma


R113A_HUMAN E3 ubiquitin-protein ligase RNF113A (sprot)


TERT_HUMAN Telomerase reverse transcriptase (sprot)


EOMES_HUMAN Eomesodermin homolog (sprot)


PO2F1_HUMAN POU domain, class 2, transcription factor 1 (sprot)


WDR62_HUMAN WD repeat-containing protein 62 (sprot)


SSF1_HUMAN Suppressor of SWI4 1 homolog (sprot)


MBPHL_HUMAN Myosin-binding protein H-like (sprot)


ABTB1_HUMAN Ankyrin repeat and BTB/POZ domain-containing protein 1 (sprot)


THOC6_HUMAN THO complex subunit 6 homolog (sprot)


NPDC1_HUMAN Neural proliferation differentiation and control protein 1 (sprot)


NAR3_HUMAN Ecto-ADP-ribosyltransferase 3 (sprot)


RM51_HUMAN 39S ribosomal protein L51, mitochondrial (sprot)


DAOA_HUMAN D-amino acid oxidase activator (sprot)


MTA70_HUMAN N6-adenosine-methyltransferase catalytic subunit (sprot)


WTIP_HUMAN Wilms tumor protein 1-interacting protein (sprot)


DLX3_HUMAN Homeobox protein DLX-3 (sprot)


MTG2_HUMAN Mitochondrial ribosome-associated GTPase 2 (sprot)


IGHG1_HUMAN Immunoglobulin heavy constant gamma 1 (sprot)


IF6_HUMAN Eukaryotic translation initiation factor 6 (sprot)


CP8B1_HUMAN 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase (sprot)


TREX2_HUMAN Three prime repair exonuclease 2 (sprot)


RNZ2_HUMAN Zinc phosphodiesterase ELAC protein 2 (sprot)


DRD2_HUMAN D(2) dopamine receptor (sprot)


RPC7L_HUMAN DNA-directed RNA polymerase III subunit RPC7-like (sprot)


CENPS_HUMAN Centromere protein S (sprot)


MSI2H_HUMAN RNA-binding protein Musashi homolog 2 (sprot)


ISL2_HUMAN Insulin gene enhancer protein ISL-2 (sprot)


TBX19_HUMAN T-box transcription factor TBX19 (sprot)


FABP9_HUMAN Fatty acid-binding protein 9 (sprot)


STA5B_HUMAN Signal transducer and activator of transcription 5B (sprot)


autosomal recessive nonsyndromic hearing loss 3


TP4A2_HUMAN Protein tyrosine phosphatase type IVA 2 (sprot)


WDR33_HUMAN pre-mRNA 3' end processing protein WDR33 (sprot)


E2AK2_HUMAN Interferon-induced, double-stranded RNA-activated protein kinase (sprot)


PI51A_HUMAN Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha (sprot)


DTX2_HUMAN Probable E3 ubiquitin-protein ligase DTX2 (sprot)


CD79B_HUMAN B-cell antigen receptor complex-associated protein beta chain (sprot)


PCDB7_HUMAN Protocadherin beta-7 (sprot)


intellectual developmental disorder with dysmorphic facies and ptosis


STAU2_HUMAN Double-stranded RNA-binding protein Staufen homolog 2 (sprot)


KCC4_HUMAN Calcium/calmodulin-dependent protein kinase type IV (sprot)


CDR2L_HUMAN Cerebellar degeneration-related protein 2-like (sprot)


BTBDI_HUMAN BTB/POZ domain-containing protein 18 (sprot)


central nervous system melanocytic neoplasm


UBL5_HUMAN Ubiquitin-like protein 5 (sprot)


AKTS1_HUMAN Proline-rich AKT1 substrate 1 (sprot)


DDX46_HUMAN Probable ATP-dependent RNA helicase DDX46 (sprot)


HS902_HUMAN Heat shock protein HSP 90-alpha A2 (sprot)


CENPW_HUMAN Centromere protein W (sprot)


S26A6_HUMAN Solute carrier family 26 member 6 (sprot)


NHRF3_HUMAN Na(+)/H(+) exchange regulatory cofactor NHE-RF3 (sprot)


MOT2_HUMAN Monocarboxylate transporter 2 (sprot)


TPM3_HUMAN Tropomyosin alpha-3 chain (sprot)


cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome


Ewing sarcoma/peripheral primitive neuroectodermal tumor


NAL10_HUMAN NACHT, LRR and PYD domains-containing protein 10 (sprot)


MESH1_HUMAN Guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 (sprot)


SCAF4_HUMAN SR-related and CTD-associated factor 4 (sprot)


GABP2_HUMAN GA-binding protein subunit beta-2 (sprot)


MEF2A_HUMAN Myocyte-specific enhancer factor 2A (sprot)


FLI1_HUMAN Friend leukemia integration 1 transcription factor (sprot)


TBX20_HUMAN T-box transcription factor TBX20 (sprot)


FCERG_HUMAN High affinity immunoglobulin epsilon receptor subunit gamma (sprot)


CIDEC_HUMAN Cell death activator CIDE-3 (sprot)


ERIC1_HUMAN Glutamate-rich protein 1 (sprot)


NTCP7_HUMAN Sodium/bile acid cotransporter 7 (sprot)


DMC1_HUMAN Meiotic recombination protein DMC1/LIM15 homolog (sprot)


IFIT5_HUMAN Interferon-induced protein with tetratricopeptide repeats 5 (sprot)


DPYL3_HUMAN Dihydropyrimidinase-related protein 3 (sprot)


MICU3_HUMAN Calcium uptake protein 3, mitochondrial (sprot)


MOT10_HUMAN Monocarboxylate transporter 10 (sprot)


PP4P1_HUMAN Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase (sprot)


ARM12_HUMAN Armadillo repeat-containing protein 12 (sprot)


WDR19_HUMAN WD repeat-containing protein 19 (sprot)


glycogen storage disease due to glucose-6-phosphatase deficiency type IA


RHBT2_HUMAN Rho-related BTB domain-containing protein 2 (sprot)


TYDP2_HUMAN Tyrosyl-DNA phosphodiesterase 2 (sprot)


DHRS7_HUMAN Dehydrogenase/reductase SDR family member 7 (sprot)


undifferentiated connective tissue syndrome


LENG8_HUMAN Leukocyte receptor cluster member 8 (sprot)


SKT_HUMAN Sickle tail protein homolog (sprot)


SHC2_HUMAN SHC-transforming protein 2 (sprot)


SYCP3_HUMAN Synaptonemal complex protein 3 (sprot)


ATL1_HUMAN ADAMTS-like protein 1 (sprot)


ING5_HUMAN Inhibitor of growth protein 5 (sprot)


rhabdoid tumor predisposition syndrome 2


autosomal dominant childhood-onset proximal spinal muscular atrophy


CLCN4_HUMAN H(+)/Cl(-) exchange transporter 4 (sprot)


SSDH_HUMAN Succinate-semialdehyde dehydrogenase, mitochondrial (sprot)


PUR8_HUMAN Adenylosuccinate lyase (sprot)


lethal arthrogryposis-anterior horn cell disease syndrome


CO4A3_HUMAN Collagen alpha-3(IV) chain (sprot)


PEX12_HUMAN Peroxisome assembly protein 12 (sprot)


DGKZ_HUMAN Diacylglycerol kinase zeta (sprot)


NADE_HUMAN Glutamine-dependent NAD(+) synthetase (sprot)


ENC1_HUMAN Ectoderm-neural cortex protein 1 (sprot)


CEP43_HUMAN Centrosomal protein 43 (sprot)


TRIA1_HUMAN TP53-regulated inhibitor of apoptosis 1 (sprot)


juvenile idiopathic inflammatory myopathy


MORC4_HUMAN MORC family CW-type zinc finger protein 4 (sprot)


UD13_HUMAN UDP-glucuronosyltransferase 1A3 (sprot)


RS2_HUMAN 40S ribosomal protein S2 (sprot)


DJC24_HUMAN DnaJ homolog subfamily C member 24 (sprot)


LRRC7_HUMAN Leucine-rich repeat-containing protein 7 (sprot)


PITC1_HUMAN Cytoplasmic phosphatidylinositol transfer protein 1 (sprot)


GDPD4_HUMAN Glycerophosphodiester phosphodiesterase domain-containing protein 4 (sprot)


RN112_HUMAN RING finger protein 112 (sprot)


MILK1_HUMAN MICAL-like protein 1 (sprot)


SMG1_HUMAN Serine/threonine-protein kinase SMG1 (sprot)


TNF11_HUMAN Tumor necrosis factor ligand superfamily member 11 (sprot)


PP2BB_HUMAN Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform (sprot)


PAPD7_HUMAN Terminal nucleotidyltransferase 4A (sprot)


RT06_HUMAN 28S ribosomal protein S6, mitochondrial (sprot)


FEZF2_HUMAN Fez family zinc finger protein 2 (sprot)


ARI4A_HUMAN AT-rich interactive domain-containing protein 4A (sprot)


combined deficiency of factor V and factor VIII


MAOM_HUMAN NAD-dependent malic enzyme, mitochondrial (sprot)


autosomal recessive nonsyndromic hearing loss 2


TPST1_HUMAN Protein-tyrosine sulfotransferase 1 (sprot)


GTPB1_HUMAN GTP-binding protein 1 (sprot)


TCTP_HUMAN Translationally-controlled tumor protein (sprot)


FBXL8_HUMAN F-box/LRR-repeat protein 8 (sprot)


MRGX2_HUMAN Mas-related G-protein coupled receptor member X2 (sprot)


S7A13_HUMAN Solute carrier family 7 member 13 (sprot)


UTP25_HUMAN U3 small nucleolar RNA-associated protein 25 homolog (sprot)


PPR29_HUMAN Protein phosphatase 1 regulatory subunit 29 (sprot)


GATD1_HUMAN GATA zinc finger domain-containing protein 1 (sprot)


EFL1_HUMAN Elongation factor-like GTPase 1 (sprot)


ADA1B_HUMAN Alpha-1B adrenergic receptor (sprot)


KLDC4_HUMAN Kelch domain-containing protein 4 (sprot)


TRI65_HUMAN Tripartite motif-containing protein 65 (sprot)


NR6A1_HUMAN Nuclear receptor subfamily 6 group A member 1 (sprot)


GRAM4_HUMAN GRAM domain-containing protein 4 (sprot)


LIRB2_HUMAN Leukocyte immunoglobulin-like receptor subfamily B member 2 (sprot)


HDAC5_HUMAN Histone deacetylase 5 (sprot)


K1109_HUMAN Transmembrane protein KIAA1109 (sprot)


CCD66_HUMAN Coiled-coil domain-containing protein 66 (sprot)


epidermophyton floccosum allergenic extract


DJC10_HUMAN DnaJ homolog subfamily C member 10 (sprot)


TRPM4_HUMAN Transient receptor potential cation channel subfamily M member 4 (sprot)


HXD3_HUMAN Homeobox protein Hox-D3 (sprot)


FAN1_HUMAN Fanconi-associated nuclease 1 (sprot)


FOXC1_HUMAN Forkhead box protein C1 (sprot)


TSSK2_HUMAN Testis-specific serine/threonine-protein kinase 2 (sprot)


RHGBA_HUMAN Rho GTPase-activating protein 11A (sprot)


MORN4_HUMAN MORN repeat-containing protein 4 (sprot)


CGNL1_HUMAN Cingulin-like protein 1 (sprot)


HRK_HUMAN Activator of apoptosis harakiri (sprot)


PCSK5_HUMAN Proprotein convertase subtilisin/kexin type 5 (sprot)


FADS3_HUMAN Fatty acid desaturase 3 (sprot)


PLAT3_HUMAN Phospholipase A and acyltransferase 3 (sprot)


MX1_HUMAN Interferon-induced GTP-binding protein Mx1 (sprot)


distal hereditary motor neuropathy type 2


CCZ1_HUMAN Vacuolar fusion protein CCZ1 homolog (sprot)


CNBP1_HUMAN Beta-catenin-interacting protein 1 (sprot)


TSYL1_HUMAN Testis-specific Y-encoded-like protein 1 (sprot)


SESD1_HUMAN SEC14 domain and spectrin repeat-containing protein 1 (sprot)


JKAMP_HUMAN JNK1/MAPK8-associated membrane protein (sprot)


KTNA1_HUMAN Katanin p60 ATPase-containing subunit A1 (sprot)


ZSC21_HUMAN Zinc finger and SCAN domain-containing protein 21 (sprot)


P66B_HUMAN Transcriptional repressor p66-beta (sprot)


NOBOX_HUMAN Homeobox protein NOBOX (sprot)


SKAP2_HUMAN Src kinase-associated phosphoprotein 2 (sprot)


AGRB2_HUMAN Adhesion G protein-coupled receptor B2 (sprot)


gastric mucosa-associated lymphoid tissue lymphoma


CTDP1_HUMAN RNA polymerase II subunit A C-terminal domain phosphatase (sprot)


autosomal recessive inherited pseudoxanthoma elasticum


ZBT17_HUMAN Zinc finger and BTB domain-containing protein 17 (sprot)


PLK4_HUMAN Serine/threonine-protein kinase PLK4 (sprot)


SCTM1_HUMAN Secreted and transmembrane protein 1 (sprot)


EVA1A_HUMAN Protein eva-1 homolog A (sprot)


VMAT1_HUMAN Chromaffin granule amine transporter (sprot)


BIN3_HUMAN Bridging integrator 3 (sprot)


DLRB1_HUMAN Dynein light chain roadblock-type 1 (sprot)


NALP8_HUMAN NACHT, LRR and PYD domains-containing protein 8 (sprot)


TUSC3_HUMAN Tumor suppressor candidate 3 (sprot)


ROA3_HUMAN Heterogeneous nuclear ribonucleoprotein A3 (sprot)


ZW10_HUMAN Centromere/kinetochore protein zw10 homolog (sprot)


MSH2_HUMAN DNA mismatch repair protein Msh2 (sprot)


myeloid neoplasm associated with FGFR1 rearrangement


myelodysplastic syndrome with excess blasts


AT11A_HUMAN Phospholipid-transporting ATPase IH (sprot)


FX4L1_HUMAN Forkhead box protein D4-like 1 (sprot)


KCNK3_HUMAN Potassium channel subfamily K member 3 (sprot)


ZCPW1_HUMAN Zinc finger CW-type PWWP domain protein 1 (sprot)


COMD5_HUMAN COMM domain-containing protein 5 (sprot)


CBLB_HUMAN E3 ubiquitin-protein ligase CBL-B (sprot)


TRI22_HUMAN E3 ubiquitin-protein ligase TRIM22 (sprot)


PCBP3_HUMAN Poly(rC)-binding protein 3 (sprot)


SHCAF_HUMAN SIN3-HDAC complex-associated factor (sprot)


HXC12_HUMAN Homeobox protein Hox-C12 (sprot)


NDUA1_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 (sprot)


APRV1_HUMAN Retroviral-like aspartic protease 1 (sprot)


autosomal dominant nonsyndromic hearing loss 17


DCOR_HUMAN Ornithine decarboxylase (sprot)


SPN90_HUMAN NCK-interacting protein with SH3 domain (sprot)


ABLM2_HUMAN Actin-binding LIM protein 2 (sprot)


BRX1_HUMAN Ribosome biogenesis protein BRX1 homolog (sprot)


GLYAT_HUMAN Glycine N-acyltransferase (sprot)


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


HXC11_HUMAN Homeobox protein Hox-C11 (sprot)


ANGL2_HUMAN Angiopoietin-related protein 2 (sprot)


ACAP1_HUMAN Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 (sprot)


USP9X_HUMAN Probable ubiquitin carboxyl-terminal hydrolase FAF-X (sprot)


hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1


AGTR2_HUMAN Type-2 angiotensin II receptor (sprot)


RT05_HUMAN 28S ribosomal protein S5, mitochondrial (sprot)


VPS4A_HUMAN Vacuolar protein sorting-associated protein 4A (sprot)


SOAT_HUMAN Sodium-dependent organic anion transporter (sprot)


FLRT1_HUMAN Leucine-rich repeat transmembrane protein FLRT1 (sprot)


DPTOR_HUMAN DEP domain-containing mTOR-interacting protein (sprot)


TM9S3_HUMAN Transmembrane 9 superfamily member 3 (sprot)


IGHM_HUMAN Immunoglobulin heavy constant mu (sprot)


CLPB_HUMAN Caseinolytic peptidase B protein homolog (sprot)


NDUAC_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 (sprot)


ABCD2_HUMAN ATP-binding cassette sub-family D member 2 (sprot)


CXCR3_HUMAN C-X-C chemokine receptor type 3 (sprot)


short rib-polydactyly syndrome, Majewski type


MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 (sprot)


ABCAA_HUMAN ATP-binding cassette sub-family A member 10 (sprot)


CARD8_HUMAN Caspase recruitment domain-containing protein 8 (sprot)


acute inflammatory demyelinating polyradiculoneuropathy


CPEB3_HUMAN Cytoplasmic polyadenylation element-binding protein 3 (sprot)


AL3A2_HUMAN Aldehyde dehydrogenase family 3 member A2 (sprot)


PCY2_HUMAN Ethanolamine-phosphate cytidylyltransferase (sprot)


FNDC5_HUMAN Fibronectin type III domain-containing protein 5 (sprot)


CLCC1_HUMAN Chloride channel CLIC-like protein 1 (sprot)


UROK_HUMAN Urokinase-type plasminogen activator (sprot)


CFA91_HUMAN Cilia- and flagella-associated protein 91 (sprot)


BCDO2_HUMAN Carotenoid-cleaving dioxygenase, mitochondrial (sprot)


FBX47_HUMAN F-box only protein 47 (sprot)


congenital generalized lipodystrophy type 1


CE104_HUMAN Centrosomal protein of 104 kDa (sprot)


DYLT4_HUMAN Dynein light chain Tctex-type 4 (sprot)


RAB3A_HUMAN Ras-related protein Rab-3A (sprot)


MIC60_HUMAN MICOS complex subunit MIC60 (sprot)


CLC4G_HUMAN C-type lectin domain family 4 member G (sprot)


ELF4_HUMAN ETS-related transcription factor Elf-4 (sprot)


HINT1_HUMAN Adenosine 5'-monophosphoramidase HINT1 (sprot)


generalized galactose epimerase deficiency


PTTG_HUMAN Pituitary tumor-transforming gene 1 protein-interacting protein (sprot)


ACKR1_HUMAN Atypical chemokine receptor 1 (sprot)


TSG6_HUMAN Tumor necrosis factor-inducible gene 6 protein (sprot)


UFSP2_HUMAN Ufm1-specific protease 2 (sprot)


PNKP_HUMAN Bifunctional polynucleotide phosphatase/kinase (sprot)


TIDC1_HUMAN Complex I assembly factor TIMMDC1, mitochondrial (sprot)


IQGA2_HUMAN Ras GTPase-activating-like protein IQGAP2 (sprot)


FBLN3_HUMAN EGF-containing fibulin-like extracellular matrix protein 1 (sprot)


DC1L2_HUMAN Cytoplasmic dynein 1 light intermediate chain 2 (sprot)


PPIL1_HUMAN Peptidyl-prolyl cis-trans isomerase-like 1 (sprot)


body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency


CLUA1_HUMAN Clusterin-associated protein 1 (sprot)


LARP1_HUMAN La-related protein 1 (sprot)


REPI1_HUMAN Replication initiator 1 (sprot)


VKOR1_HUMAN Vitamin K epoxide reductase complex subunit 1 (sprot)


SNUT1_HUMAN U4/U6.U5 tri-snRNP-associated protein 1 (sprot)


HIG1B_HUMAN HIG1 domain family member 1B (sprot)


CR3L3_HUMAN Cyclic AMP-responsive element-binding protein 3-like protein 3 (sprot)


RASF2_HUMAN Ras association domain-containing protein 2 (sprot)


BMPR2_HUMAN Bone morphogenetic protein receptor type-2 (sprot)


BIG1_HUMAN Brefeldin A-inhibited guanine nucleotide-exchange protein 1 (sprot)


SETX_HUMAN Probable helicase senataxin (sprot)


BRCA1_HUMAN Breast cancer type 1 susceptibility protein (sprot)


NCOA5_HUMAN Nuclear receptor coactivator 5 (sprot)


ALG6-congenital disorder of glycosylation 1C


DUS15_HUMAN Dual specificity protein phosphatase 15 (sprot)


UDB17_HUMAN UDP-glucuronosyltransferase 2B17 (sprot)


GDPD3_HUMAN Lysophospholipase D GDPD3 (sprot)


MIRO1_HUMAN Mitochondrial Rho GTPase 1 (sprot)


NALP2_HUMAN NACHT, LRR and PYD domains-containing protein 2 (sprot)


KRA23_HUMAN Keratin-associated protein 2-3 (sprot)


GYS2_HUMAN Glycogen [starch] synthase, liver (sprot)


GCNA_HUMAN Germ cell nuclear acidic protein (sprot)


CLC10_HUMAN C-type lectin domain family 10 member A (sprot)


autosomal dominant medullary cystic kidney disease with or without hyperuricemia


PDIA6_HUMAN Protein disulfide-isomerase A6 (sprot)


CO4A6_HUMAN Collagen alpha-6(IV) chain (sprot)


TM52B_HUMAN Transmembrane protein 52B (sprot)


DMP1_HUMAN Dentin matrix acidic phosphoprotein 1 (sprot)


carnitine palmitoyltransferase II deficiency


TADBP_HUMAN TAR DNA-binding protein 43 (sprot)


TTYH1_HUMAN Protein tweety homolog 1 (sprot)


PP4R2_HUMAN Serine/threonine-protein phosphatase 4 regulatory subunit 2 (sprot)


TBX3_HUMAN T-box transcription factor TBX3 (sprot)


C1QT4_HUMAN Complement C1q tumor necrosis factor-related protein 4 (sprot)


RL14_HUMAN 60S ribosomal protein L14 (sprot)


SKAP_HUMAN Small kinetochore-associated protein (sprot)


ATS15_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 15 (sprot)


AGRE1_HUMAN Adhesion G protein-coupled receptor E1 (sprot)


LRIG1_HUMAN Leucine-rich repeats and immunoglobulin-like domains protein 1 (sprot)


autosomal dominant distal renal tubular acidosis


SLNL1_HUMAN Schlafen-like protein 1 (sprot)


Febrile seizure (within the age range of 3 months to 6 years)


PRDC1_HUMAN Phosphoribosyltransferase domain-containing protein 1 (sprot)


NFH_HUMAN Neurofilament heavy polypeptide (sprot)


RED2_HUMAN Double-stranded RNA-specific editase B2 (sprot)


TSP50_HUMAN Probable threonine protease PRSS50 (sprot)


PDIA1_HUMAN Protein disulfide-isomerase (sprot)


PTF1A_HUMAN Pancreas transcription factor 1 subunit alpha (sprot)


PPARD_HUMAN Peroxisome proliferator-activated receptor delta (sprot)


ACTS_HUMAN Actin, alpha skeletal muscle (sprot)


MITOS_HUMAN Mitochondrial potassium channel ATP-binding subunit (sprot)


SEN2_HUMAN tRNA-splicing endonuclease subunit Sen2 (sprot)


RBM33_HUMAN RNA-binding protein 33 (sprot)


SUCO_HUMAN SUN domain-containing ossification factor (sprot)


CCR5_HUMAN C-C chemokine receptor type 5 (sprot)


RECQ1_HUMAN ATP-dependent DNA helicase Q1 (sprot)


complete androgen insensitivity syndrome


SBK3_HUMAN Uncharacterized serine/threonine-protein kinase SBK3 (sprot)


CTBL1_HUMAN Beta-catenin-like protein 1 (sprot)


VEGFB_HUMAN Vascular endothelial growth factor B (sprot)


LRIF1_HUMAN Ligand-dependent nuclear receptor-interacting factor 1 (sprot)


TRI13_HUMAN E3 ubiquitin-protein ligase TRIM13 (sprot)


AGR3_HUMAN Anterior gradient protein 3 (sprot)


GMCL2_HUMAN Germ cell-less protein-like 2 (sprot)


BUD23_HUMAN Probable 18S rRNA (guanine-N(7))-methyltransferase (sprot)


BL1S4_HUMAN Biogenesis of lysosome-related organelles complex 1 subunit 4 (sprot)


ARI3B_HUMAN AT-rich interactive domain-containing protein 3B (sprot)


SPSB1_HUMAN SPRY domain-containing SOCS box protein 1 (sprot)


AF1L1_HUMAN Actin filament-associated protein 1-like 1 (sprot)


RET1_HUMAN Retinol-binding protein 1 (sprot)


OR6C2_HUMAN Olfactory receptor 6C2 (sprot)


KTDAP_HUMAN Keratinocyte differentiation-associated protein (sprot)


DAZ4_HUMAN Deleted in azoospermia protein 4 (sprot)


ALG2_HUMAN Alpha-1,3/1,6-mannosyltransferase ALG2 (sprot)


GSTM2_HUMAN Glutathione S-transferase Mu 2 (sprot)


ATP5L_HUMAN ATP synthase subunit g, mitochondrial (sprot)


autoinflammation with arthritis and dyskeratosis


MGAP_HUMAN MAX gene-associated protein (sprot)


SL9A2_HUMAN Sodium/hydrogen exchanger 2 (sprot)


FUND1_HUMAN FUN14 domain-containing protein 1 (sprot)


MARC2_HUMAN Mitochondrial amidoxime reducing component 2 (sprot)


IL12A_HUMAN Interleukin-12 subunit alpha (sprot)


CHM2B_HUMAN Charged multivesicular body protein 2b (sprot)


ZCHC4_HUMAN rRNA N6-adenosine-methyltransferase ZCCHC4 (sprot)


tumor of hematopoietic and lymphoid tissues


FKRP_HUMAN Ribitol 5-phosphate transferase FKRP (sprot)


RAB19_HUMAN Ras-related protein Rab-19 (sprot)


MTCH2_HUMAN Mitochondrial carrier homolog 2 (sprot)


FOXB1_HUMAN Forkhead box protein B1 (sprot)


S12A8_HUMAN Solute carrier family 12 member 8 (sprot)


ARMC3_HUMAN Armadillo repeat-containing protein 3 (sprot)


SLAF1_HUMAN Signaling lymphocytic activation molecule (sprot)


ASB17_HUMAN Ankyrin repeat and SOCS box protein 17 (sprot)


GAS2_HUMAN Growth arrest-specific protein 2 (sprot)


SCRIB_HUMAN Protein scribble homolog (sprot)


SYCP2_HUMAN Synaptonemal complex protein 2 (sprot)


thyroid hormone resistance, generalized, autosomal recessive


TMTC1_HUMAN Protein O-mannosyl-transferase TMTC1 (sprot)


IBP2_HUMAN Insulin-like growth factor-binding protein 2 (sprot)


RL28_HUMAN 60S ribosomal protein L28 (sprot)


LIRB1_HUMAN Leukocyte immunoglobulin-like receptor subfamily B member 1 (sprot)


CACB2_HUMAN Voltage-dependent L-type calcium channel subunit beta-2 (sprot)


NIPS2_HUMAN Protein NipSnap homolog 2 (sprot)


GNAI2_HUMAN Guanine nucleotide-binding protein G(i) subunit alpha-2 (sprot)


NCKP1_HUMAN Nck-associated protein 1 (sprot)


STF1_HUMAN Steroidogenic factor 1 (sprot)


RAB31_HUMAN Ras-related protein Rab-31 (sprot)


FHR4_HUMAN Complement factor H-related protein 4 (sprot)


GCDH_HUMAN Glutaryl-CoA dehydrogenase, mitochondrial (sprot)


LRIT3_HUMAN Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 (sprot)


DCBD2_HUMAN Discoidin, CUB and LCCL domain-containing protein 2 (sprot)


IER5L_HUMAN Immediate early response gene 5-like protein (sprot)


PTBP2_HUMAN Polypyrimidine tract-binding protein 2 (sprot)


CXA4_HUMAN Gap junction alpha-4 protein (sprot)


ATRN1_HUMAN Attractin-like protein 1 (sprot)


RXLT1_HUMAN Ribitol-5-phosphate xylosyltransferase 1 (sprot)


DGAT2_HUMAN Diacylglycerol O-acyltransferase 2 (sprot)


REPS2_HUMAN RalBP1-associated Eps domain-containing protein 2 (sprot)


GATA4_HUMAN Transcription factor GATA-4 (sprot)


MACD1_HUMAN ADP-ribose glycohydrolase MACROD1 (sprot)


ATL2_HUMAN ADAMTS-like protein 2 (sprot)


S39A8_HUMAN Metal cation symporter ZIP8 (sprot)


Z385B_HUMAN Zinc finger protein 385B (sprot)


LPP_HUMAN Lipoma-preferred partner (sprot)


RAB4B_HUMAN Ras-related protein Rab-4B (sprot)


SIRB1_HUMAN Signal-regulatory protein beta-1 (sprot)


succinyl-CoA:3-ketoacid CoA transferase deficiency


microcephalic osteodysplastic dysplasia, Saul-Wilson type


LTBP1_HUMAN Latent-transforming growth factor beta-binding protein 1 (sprot)


ISK8_HUMAN Serine protease inhibitor Kazal-type 8 (sprot)


SIT1_HUMAN Signaling threshold-regulating transmembrane adapter 1 (sprot)


CRLD1_HUMAN Cysteine-rich secretory protein LCCL domain-containing 1 (sprot)


CASZ1_HUMAN Zinc finger protein castor homolog 1 (sprot)


TR10B_HUMAN Tumor necrosis factor receptor superfamily member 10B (sprot)


COBL1_HUMAN Cordon-bleu protein-like 1 (sprot)


autosomal recessive nonsyndromic hearing loss 8


KCNJ1_HUMAN ATP-sensitive inward rectifier potassium channel 1 (sprot)


GBG1_HUMAN Guanine nucleotide-binding protein G(T) subunit gamma-T1 (sprot)


LTOR5_HUMAN Ragulator complex protein LAMTOR5 (sprot)


ANKY2_HUMAN Ankyrin repeat and MYND domain-containing protein 2 (sprot)


FBX27_HUMAN F-box only protein 27 (sprot)


TTLL3_HUMAN Tubulin monoglycylase TTLL3 (sprot)


MSH6_HUMAN DNA mismatch repair protein Msh6 (sprot)


PREX2_HUMAN Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein (sprot)


LARP7_HUMAN La-related protein 7 (sprot)


TGON2_HUMAN Trans-Golgi network integral membrane protein 2 (sprot)


T185B_HUMAN Transmembrane protein 185B (sprot)


TNF12_HUMAN Tumor necrosis factor ligand superfamily member 12 (sprot)


isolated focal cortical dysplasia type IIa


DPPA5_HUMAN Developmental pluripotency-associated 5 protein (sprot)


FUT3_HUMAN 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3 (sprot)


MCM10_HUMAN Protein MCM10 homolog (sprot)


RGPD1_HUMAN RANBP2-like and GRIP domain-containing protein 1 (sprot)


BANK1_HUMAN B-cell scaffold protein with ankyrin repeats (sprot)


SC5A8_HUMAN Sodium-coupled monocarboxylate transporter 1 (sprot)


hematopoietic and lymphoid cell neoplasm


PTTG3_HUMAN Putative pituitary tumor-transforming gene 3 protein (sprot)


NKAI4_HUMAN Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4 (sprot)


RAB20_HUMAN Ras-related protein Rab-20 (sprot)


KAAG1_HUMAN Kidney-associated antigen 1 (sprot)


RM11_HUMAN 39S ribosomal protein L11, mitochondrial (sprot)


RELB_HUMAN Transcription factor RelB (sprot)


CIB2_HUMAN Calcium and integrin-binding family member 2 (sprot)


HPS5_HUMAN BLOC-2 complex member HPS5 (sprot)


FUT9_HUMAN 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 (sprot)


TNFL6_HUMAN Tumor necrosis factor ligand superfamily member 6 (sprot)


HXA11_HUMAN Homeobox protein Hox-A11 (sprot)


NAKD2_HUMAN NAD kinase 2, mitochondrial (sprot)


EMC7_HUMAN ER membrane protein complex subunit 7 (sprot)


MORN1_HUMAN MORN repeat-containing protein 1 (sprot)


IN35_HUMAN Interferon-induced 35 kDa protein (sprot)


SPT22_HUMAN Spermatogenesis-associated protein 22 (sprot)


SPP24_HUMAN Secreted phosphoprotein 24 (sprot)


HTF4_HUMAN Transcription factor 12 (sprot)


CSH1_HUMAN Chorionic somatomammotropin hormone 1 (sprot)


AROS_HUMAN Active regulator of SIRT1 (sprot)


FA11_HUMAN Coagulation factor XI (sprot)


FOXE1_HUMAN Forkhead box protein E1 (sprot)


OTP_HUMAN Homeobox protein orthopedia (sprot)


HEY2_HUMAN Hairy/enhancer-of-split related with YRPW motif protein 2 (sprot)


autosomal dominant optic atrophy, classic form


ZN148_HUMAN Zinc finger protein 148 (sprot)


IBP5_HUMAN Insulin-like growth factor-binding protein 5 (sprot)


KCD17_HUMAN BTB/POZ domain-containing protein KCTD17 (sprot)


DC2I1_HUMAN Cytoplasmic dynein 2 intermediate chain 1 (sprot)


zinc-responsive necrolytic acral erythema


AKA11_HUMAN A-kinase anchor protein 11 (sprot)


CTL2_HUMAN Choline transporter-like protein 2 (sprot)


SRP14_HUMAN Signal recognition particle 14 kDa protein (sprot)


ECHM_HUMAN Enoyl-CoA hydratase, mitochondrial (sprot)


IFRD1_HUMAN Interferon-related developmental regulator 1 (sprot)


WWTR1_HUMAN WW domain-containing transcription regulator protein 1 (sprot)


BMP5_HUMAN Bone morphogenetic protein 5 (sprot)


NCS1_HUMAN Neuronal calcium sensor 1 (sprot)


DPOA2_HUMAN DNA polymerase alpha subunit B (sprot)


ZWILC_HUMAN Protein zwilch homolog (sprot)


diffuse nonepidermolytic palmoplantar keratoderma


INO1_HUMAN Inositol-3-phosphate synthase 1 (sprot)


PARK7_HUMAN Parkinson disease protein 7 (sprot)


RHOQ_HUMAN Rho-related GTP-binding protein RhoQ (sprot)


HELT_HUMAN Hairy and enhancer of split-related protein HELT (sprot)


BTNL2_HUMAN Butyrophilin-like protein 2 (sprot)


S38A9_HUMAN Sodium-coupled neutral amino acid transporter 9 (sprot)


SCN3B_HUMAN Sodium channel subunit beta-3 (sprot)


GPVI_HUMAN Platelet glycoprotein VI (sprot)


IF2B2_HUMAN Insulin-like growth factor 2 mRNA-binding protein 2 (sprot)


LETM2_HUMAN LETM1 domain-containing protein LETM2, mitochondrial (sprot)


PA2GC_HUMAN Putative inactive group IIC secretory phospholipase A2 (sprot)


IKBA_HUMAN NF-kappa-B inhibitor alpha (sprot)


MED9_HUMAN Mediator of RNA polymerase II transcription subunit 9 (sprot)


ATAD5_HUMAN ATPase family AAA domain-containing protein 5 (sprot)


SIG12_HUMAN Sialic acid-binding Ig-like lectin 12 (sprot)


FOXJ1_HUMAN Forkhead box protein J1 (sprot)


DBX1_HUMAN Homeobox protein DBX1 (sprot)


RSLBB_HUMAN Ras-like protein family member 11B (sprot)


SHPS1_HUMAN Tyrosine-protein phosphatase non-receptor type substrate 1 (sprot)


PCDA9_HUMAN Protocadherin alpha-9 (sprot)


ARY1_HUMAN Arylamine N-acetyltransferase 1 (sprot)


RHG30_HUMAN Rho GTPase-activating protein 30 (sprot)


GPNMB_HUMAN Transmembrane glycoprotein NMB (sprot)


G0S2_HUMAN G0/G1 switch protein 2 (sprot)


MED20_HUMAN Mediator of RNA polymerase II transcription subunit 20 (sprot)


DEF1_HUMAN Neutrophil defensin 1 (sprot)


CPT1B_HUMAN Carnitine O-palmitoyltransferase 1, muscle isoform (sprot)


KCNJ3_HUMAN G protein-activated inward rectifier potassium channel 1 (sprot)


MPP8_HUMAN M-phase phosphoprotein 8 (sprot)


D19L4_HUMAN Probable C-mannosyltransferase DPY19L4 (sprot)


TIGD4_HUMAN Tigger transposable element-derived protein 4 (sprot)


ZN471_HUMAN Zinc finger protein 471 (sprot)


TRPM3_HUMAN Transient receptor potential cation channel subfamily M member 3 (sprot)


ARP3_HUMAN Actin-related protein 3 (sprot)


KSYK_HUMAN Tyrosine-protein kinase SYK (sprot)


UB2Q2_HUMAN Ubiquitin-conjugating enzyme E2 Q2 (sprot)


METL4_HUMAN N(6)-adenine-specific methyltransferase METTL4 (sprot)


MI4GD_HUMAN MIF4G domain-containing protein (sprot)


NKG2D_HUMAN NKG2-D type II integral membrane protein (sprot)


CL18B_HUMAN C-type lectin domain family 18 member B (sprot)


GOT1B_HUMAN Vesicle transport protein GOT1B (sprot)


spondyloepiphyseal dysplasia with congenital joint dislocations


CK5P3_HUMAN CDK5 regulatory subunit-associated protein 3 (sprot)


SIA8B_HUMAN Alpha-2,8-sialyltransferase 8B (sprot)


CHM4C_HUMAN Charged multivesicular body protein 4c (sprot)


ZN461_HUMAN Zinc finger protein 461 (sprot)


MYO16_HUMAN Unconventional myosin-XVI (sprot)


CANT1_HUMAN Soluble calcium-activated nucleotidase 1 (sprot)


IF3M_HUMAN Translation initiation factor IF-3, mitochondrial (sprot)


PRP6_HUMAN Pre-mRNA-processing factor 6 (sprot)


GRK1_HUMAN Rhodopsin kinase GRK1 (sprot)


NR4A2_HUMAN Nuclear receptor subfamily 4 group A member 2 (sprot)


DPYL4_HUMAN Dihydropyrimidinase-related protein 4 (sprot)


STN1_HUMAN CST complex subunit STN1 (sprot)


PROC_HUMAN Vitamin K-dependent protein C (sprot)


AP2B_HUMAN Transcription factor AP-2-beta (sprot)


TM240_HUMAN Transmembrane protein 240 (sprot)


PLOD1_HUMAN Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (sprot)


KLD7B_HUMAN Kelch domain-containing protein 7B (sprot)


U1SBP_HUMAN U11/U12 small nuclear ribonucleoprotein 35 kDa protein (sprot)


Propanamide, N-(2,6-dimethyl-4-((4-(methyl(2-phenylethyl)amino)-1-piperidinyl)carbonyl)phenyl)-, hydrochloride, hydrate (1:1:1)


PSA1_HUMAN Proteasome subunit alpha type-1 (sprot)


HEM2_HUMAN Delta-aminolevulinic acid dehydratase (sprot)


WASL_HUMAN Actin nucleation-promoting factor WASL (sprot)


AK1C2_HUMAN Aldo-keto reductase family 1 member C2 (sprot)


LATS2_HUMAN Serine/threonine-protein kinase LATS2 (sprot)


MRP5_HUMAN ATP-binding cassette sub-family C member 5 (sprot)


GABT_HUMAN 4-aminobutyrate aminotransferase, mitochondrial (sprot)


APC7_HUMAN Anaphase-promoting complex subunit 7 (sprot)


NPY4R_HUMAN Neuropeptide Y receptor type 4 (sprot)


MALD3_HUMAN MARVEL domain-containing protein 3 (sprot)


PI4KA_HUMAN Phosphatidylinositol 4-kinase alpha (sprot)


neurodegeneration with brain iron accumulation 6


MED16_HUMAN Mediator of RNA polymerase II transcription subunit 16 (sprot)


SGK3_HUMAN Serine/threonine-protein kinase Sgk3 (sprot)


PI2R_HUMAN Prostacyclin receptor (sprot)


RGS10_HUMAN Regulator of G-protein signaling 10 (sprot)


Langerhans cell histiocytosis specific to childhood


FANCL_HUMAN E3 ubiquitin-protein ligase FANCL (sprot)


VACHT_HUMAN Vesicular acetylcholine transporter (sprot)


RPOM_HUMAN DNA-directed RNA polymerase, mitochondrial (sprot)


CABP8_HUMAN Calcium-binding protein 8 (sprot)


BI2L2_HUMAN Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 (sprot)


ALK_HUMAN ALK tyrosine kinase receptor (sprot)


LRC8C_HUMAN Volume-regulated anion channel subunit LRRC8C (sprot)


DFFB_HUMAN DNA fragmentation factor subunit beta (sprot)


CCD39_HUMAN Coiled-coil domain-containing protein 39 (sprot)


S22A6_HUMAN Solute carrier family 22 member 6 (sprot)


GGNB2_HUMAN Gametogenetin-binding protein 2 (sprot)


ISY1_HUMAN Pre-mRNA-splicing factor ISY1 homolog (sprot)


chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids


LRC25_HUMAN Leucine-rich repeat-containing protein 25 (sprot)


KI3L3_HUMAN Killer cell immunoglobulin-like receptor 3DL3 (sprot)


C1QT5_HUMAN Complement C1q tumor necrosis factor-related protein 5 (sprot)


epidermolysis bullosa simplex due to plakophilin deficiency


OAZ2_HUMAN Ornithine decarboxylase antizyme 2 (sprot)


CPEB2_HUMAN Cytoplasmic polyadenylation element-binding protein 2 (sprot)


KI18B_HUMAN Kinesin-like protein KIF18B (sprot)


IMP4_HUMAN U3 small nucleolar ribonucleoprotein protein IMP4 (sprot)


RHG24_HUMAN Rho GTPase-activating protein 24 (sprot)


NDUF5_HUMAN Arginine-hydroxylase NDUFAF5, mitochondrial (sprot)


AL7A1_HUMAN Alpha-aminoadipic semialdehyde dehydrogenase (sprot)


GRIK4_HUMAN Glutamate receptor ionotropic, kainate 4 (sprot)


ERMAP_HUMAN Erythroid membrane-associated protein (sprot)


MAP11_HUMAN Methionine aminopeptidase 1 (sprot)


PACN3_HUMAN Protein kinase C and casein kinase substrate in neurons protein 3 (sprot)


CL17A_HUMAN C-type lectin domain family 17, member A (sprot)


autosomal recessive limb-girdle muscular dystrophy type 2I


TFB2M_HUMAN Dimethyladenosine transferase 2, mitochondrial (sprot)


UBA7_HUMAN Ubiquitin-like modifier-activating enzyme 7 (sprot)


chronic thromboembolic pulmonary hypertension


yolk sac tumor of central nervous system


AP1S1_HUMAN AP-1 complex subunit sigma-1A (sprot)


EF1A1_HUMAN Elongation factor 1-alpha 1 (sprot)


FBX28_HUMAN F-box only protein 28 (sprot)


PYRD2_HUMAN Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 (sprot)


SYLM_HUMAN Leucine--tRNA ligase, mitochondrial (sprot)


RM32_HUMAN 39S ribosomal protein L32, mitochondrial (sprot)


CAC1E_HUMAN Voltage-dependent R-type calcium channel subunit alpha-1E (sprot)


ILK_HUMAN Integrin-linked protein kinase (sprot)


APC11_HUMAN Anaphase-promoting complex subunit 11 (sprot)


IQEC2_HUMAN IQ motif and SEC7 domain-containing protein 2 (sprot)


SEN15_HUMAN tRNA-splicing endonuclease subunit Sen15 (sprot)


HBG1_HUMAN Hemoglobin subunit gamma-1 (sprot)


progressive myoclonic epilepsy with dystonia


KLRF1_HUMAN Killer cell lectin-like receptor subfamily F member 1 (sprot)


NDUV1_HUMAN NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial (sprot)


HDGL1_HUMAN Hepatoma-derived growth factor-like protein 1 (sprot)


FOXK2_HUMAN Forkhead box protein K2 (sprot)


MED24_HUMAN Mediator of RNA polymerase II transcription subunit 24 (sprot)


RHG25_HUMAN Rho GTPase-activating protein 25 (sprot)


PCDB3_HUMAN Protocadherin beta-3 (sprot)


UD14_HUMAN UDP-glucuronosyltransferase 1A4 (sprot)


NFYB_HUMAN Nuclear transcription factor Y subunit beta (sprot)


ITCH_HUMAN E3 ubiquitin-protein ligase Itchy homolog (sprot)


TMED6_HUMAN Transmembrane emp24 domain-containing protein 6 (sprot)


GPTC8_HUMAN G patch domain-containing protein 8 (sprot)


CLCB_HUMAN Clathrin light chain B (sprot)


MOGS_HUMAN Mannosyl-oligosaccharide glucosidase (sprot)


B2LA1_HUMAN Bcl-2-related protein A1 (sprot)


KCNK4_HUMAN Potassium channel subfamily K member 4 (sprot)


progressive encephalopathy with leukodystrophy due to DECR deficiency


TISD_HUMAN mRNA decay activator protein ZFP36L2 (sprot)


ZN451_HUMAN E3 SUMO-protein ligase ZNF451 (sprot)


MAS1L_HUMAN Mas-related G-protein coupled receptor MRG (sprot)


CND1_HUMAN Condensin complex subunit 1 (sprot)


FNDC4_HUMAN Fibronectin type III domain-containing protein 4 (sprot)


SUV3_HUMAN ATP-dependent RNA helicase SUPV3L1, mitochondrial (sprot)


SYCM_HUMAN Probable cysteine--tRNA ligase, mitochondrial (sprot)


PRR3_HUMAN Proline-rich protein 3 (sprot)


GCYB1_HUMAN Guanylate cyclase soluble subunit beta-1 (sprot)


CCR3_HUMAN C-C chemokine receptor type 3 (sprot)


PGTA_HUMAN Geranylgeranyl transferase type-2 subunit alpha (sprot)


TBC23_HUMAN TBC1 domain family member 23 (sprot)


SMC1B_HUMAN Structural maintenance of chromosomes protein 1B (sprot)


SBK2_HUMAN Serine/threonine-protein kinase SBK2 (sprot)


K1C13_HUMAN Keratin, type I cytoskeletal 13 (sprot)


intracranial primitive neuroectodermal tumor


MTEF2_HUMAN Transcription termination factor 2, mitochondrial (sprot)


autosomal recessive limb-girdle muscular dystrophy type 2H


FBX34_HUMAN F-box only protein 34 (sprot)


GRK5_HUMAN G protein-coupled receptor kinase 5 (sprot)


EFMT3_HUMAN EEF1A lysine methyltransferase 3 (sprot)


isolated focal cortical dysplasia type IIb


MET14_HUMAN N6-adenosine-methyltransferase non-catalytic subunit (sprot)


VCX3B_HUMAN Variable charge X-linked protein 3B (sprot)


TRI66_HUMAN Tripartite motif-containing protein 66 (sprot)


maturity-onset diabetes of the young type 8


EXOS3_HUMAN Exosome complex component RRP40 (sprot)


BCDO1_HUMAN Beta,beta-carotene 15,15'-dioxygenase (sprot)


B3GT6_HUMAN Beta-1,3-galactosyltransferase 6 (sprot)


EREP1_HUMAN Endosomal transmembrane epsin interactor 1 (sprot)


EHD1_HUMAN EH domain-containing protein 1 (sprot)


NUAK2_HUMAN NUAK family SNF1-like kinase 2 (sprot)


CRLS1_HUMAN Cardiolipin synthase (CMP-forming) (sprot)


ZNF41_HUMAN Zinc finger protein 41 (sprot)


PXMP4_HUMAN Peroxisomal membrane protein 4 (sprot)


CENPB_HUMAN Major centromere autoantigen B (sprot)


ODAD2_HUMAN Outer dynein arm-docking complex subunit 2 (sprot)


NR1I2_HUMAN Nuclear receptor subfamily 1 group I member 2 (sprot)


DAD1_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1 (sprot)


progressive relapsing multiple sclerosis


familial hemophagocytic lymphohistiocytosis 2


VPS16_HUMAN Vacuolar protein sorting-associated protein 16 homolog (sprot)


TP4A3_HUMAN Protein tyrosine phosphatase type IVA 3 (sprot)


ANGL3_HUMAN Angiopoietin-related protein 3 (sprot)


RNAS1_HUMAN Ribonuclease pancreatic (sprot)


DPB1_HUMAN HLA class II histocompatibility antigen, DP beta 1 chain (sprot)


WWOX_HUMAN WW domain-containing oxidoreductase (sprot)


PP1RB_HUMAN E3 ubiquitin-protein ligase PPP1R11 (sprot)


GCN1_HUMAN eIF-2-alpha kinase activator GCN1 (sprot)


GDPD2_HUMAN Glycerophosphoinositol inositolphosphodiesterase GDPD2 (sprot)


ROBO4_HUMAN Roundabout homolog 4 (sprot)


ELOV1_HUMAN Elongation of very long chain fatty acids protein 1 (sprot)


CDHR3_HUMAN Cadherin-related family member 3 (sprot)


SYMM_HUMAN Methionine--tRNA ligase, mitochondrial (sprot)


PINX1_HUMAN PIN2/TERF1-interacting telomerase inhibitor 1 (sprot)


DGKI_HUMAN Diacylglycerol kinase iota (sprot)


SCAM2_HUMAN Secretory carrier-associated membrane protein 2 (sprot)


WAC_HUMAN WW domain-containing adapter protein with coiled-coil (sprot)


FNBP4_HUMAN Formin-binding protein 4 (sprot)


GP143_HUMAN G-protein coupled receptor 143 (sprot)


TTC5_HUMAN Tetratricopeptide repeat protein 5 (sprot)


RL1D1_HUMAN Ribosomal L1 domain-containing protein 1 (sprot)


RN146_HUMAN E3 ubiquitin-protein ligase RNF146 (sprot)


RL29_HUMAN 60S ribosomal protein L29 (sprot)


AP4-related intellectual disability and spastic paraplegia


DRAM1_HUMAN DNA damage-regulated autophagy modulator protein 1 (sprot)


MAGT1_HUMAN Magnesium transporter protein 1 (sprot)


GCSH_HUMAN Glycine cleavage system H protein, mitochondrial (sprot)


DOHH_HUMAN Deoxyhypusine hydroxylase (sprot)


FHDC1_HUMAN FH2 domain-containing protein 1 (sprot)


RNF41_HUMAN E3 ubiquitin-protein ligase NRDP1 (sprot)


TRI59_HUMAN Tripartite motif-containing protein 59 (sprot)


LSHR_HUMAN Lutropin-choriogonadotropic hormone receptor (sprot)


MIC26_HUMAN MICOS complex subunit MIC26 (sprot)


PAIRB_HUMAN Plasminogen activator inhibitor 1 RNA-binding protein (sprot)


linear and whorled nevoid hypermelanosis


SAMH1_HUMAN Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 (sprot)


KLHL9_HUMAN Kelch-like protein 9 (sprot)


CK2N2_HUMAN Calcium/calmodulin-dependent protein kinase II inhibitor 2 (sprot)


inborn mitochondrial metabolism disorder


ANM6_HUMAN Protein arginine N-methyltransferase 6 (sprot)


SEN34_HUMAN tRNA-splicing endonuclease subunit Sen34 (sprot)


HS3S4_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 4 (sprot)


PCCA_HUMAN Propionyl-CoA carboxylase alpha chain, mitochondrial (sprot)


PPIC_HUMAN Peptidyl-prolyl cis-trans isomerase C (sprot)


HRH2_HUMAN Histamine H2 receptor (sprot)


PCGF2_HUMAN Polycomb group RING finger protein 2 (sprot)


PPIF_HUMAN Peptidyl-prolyl cis-trans isomerase F, mitochondrial (sprot)


NUAK1_HUMAN NUAK family SNF1-like kinase 1 (sprot)


E41LA_HUMAN Band 4.1-like protein 4A (sprot)


RB6I2_HUMAN ELKS/Rab6-interacting/CAST family member 1 (sprot)


SNURF_HUMAN SNRPN upstream reading frame protein (sprot)


NDUAB_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 (sprot)


ZNF74_HUMAN Zinc finger protein 74 (sprot)


IRGM_HUMAN Immunity-related GTPase family M protein (sprot)


HSP7C_HUMAN Heat shock cognate 71 kDa protein (sprot)


LIPR3_HUMAN Pancreatic lipase-related protein 3 (sprot)


OR3A4_HUMAN Putative olfactory receptor 3A4 (sprot)


CP26B_HUMAN Cytochrome P450 26B1 (sprot)


DMPK_HUMAN Myotonin-protein kinase (sprot)


SACA3_HUMAN Sperm acrosome membrane-associated protein 3 (sprot)


METL6_HUMAN tRNA N(3)-methylcytidine methyltransferase METTL6 (sprot)


AKA12_HUMAN A-kinase anchor protein 12 (sprot)


RPB4_HUMAN DNA-directed RNA polymerase II subunit RPB4 (sprot)


SCN4B_HUMAN Sodium channel subunit beta-4 (sprot)


SP20H_HUMAN Transcription factor SPT20 homolog (sprot)


POC1A_HUMAN POC1 centriolar protein homolog A (sprot)


BDP1_HUMAN Transcription factor TFIIIB component B'' homolog (sprot)


2(1H)-Isoquinolinecarboxylic acid, 3,4-dihydro-6-[[[6-methoxy-4'-(trifluoromethyl)[1,1'-biphenyl]-2-yl]carbonyl]amino]-, phenyl ester


IKBP1_HUMAN Interleukin-1 receptor-associated kinase 1-binding protein 1 (sprot)


BIEA_HUMAN Biliverdin reductase A (sprot)


PRDM4_HUMAN PR domain zinc finger protein 4 (sprot)


myeloid neoplasm associated with PDGFRA rearrangement


ADCY6_HUMAN Adenylate cyclase type 6 (sprot)


TAF4_HUMAN Transcription initiation factor TFIID subunit 4 (sprot)


CLK4_HUMAN Dual specificity protein kinase CLK4 (sprot)


RAG1_HUMAN V(D)J recombination-activating protein 1 (sprot)


MEX3A_HUMAN RNA-binding protein MEX3A (sprot)


OAZ1_HUMAN Ornithine decarboxylase antizyme 1 (sprot)


5HT3B_HUMAN 5-hydroxytryptamine receptor 3B (sprot)


ACHE_HUMAN Acetylcholine receptor subunit epsilon (sprot)


GCM2_HUMAN Chorion-specific transcription factor GCMb (sprot)


DHI2_HUMAN 11-beta-hydroxysteroid dehydrogenase type 2 (sprot)


RNF12_HUMAN E3 ubiquitin-protein ligase RLIM (sprot)


RASF3_HUMAN Ras association domain-containing protein 3 (sprot)


MUT7_HUMAN Exonuclease mut-7 homolog (sprot)


C1QB_HUMAN Complement C1q subcomponent subunit B (sprot)


LMTK1_HUMAN Serine/threonine-protein kinase LMTK1 (sprot)


HS105_HUMAN Heat shock protein 105 kDa (sprot)


MOT11_HUMAN Monocarboxylate transporter 11 (sprot)


NALDL_HUMAN Aminopeptidase NAALADL1 (sprot)


autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome


ISL1_HUMAN Insulin gene enhancer protein ISL-1 (sprot)


SYNC_HUMAN Asparagine--tRNA ligase, cytoplasmic (sprot)


CWC27_HUMAN Spliceosome-associated protein CWC27 homolog (sprot)


UBA6_HUMAN Ubiquitin-like modifier-activating enzyme 6 (sprot)


T4S5_HUMAN Transmembrane 4 L6 family member 5 (sprot)


TEX19_HUMAN Testis-expressed protein 19 (sprot)


HAND2_HUMAN Heart- and neural crest derivatives-expressed protein 2 (sprot)


MO2R1_HUMAN Cell surface glycoprotein CD200 receptor 1 (sprot)


KMT5C_HUMAN Histone-lysine N-methyltransferase KMT5C (sprot)


SPTN2_HUMAN Spectrin beta chain, non-erythrocytic 2 (sprot)


ALR_HUMAN FAD-linked sulfhydryl oxidase ALR (sprot)


dopa-responsive dystonia due to sepiapterin reductase deficiency


RAC1_HUMAN Ras-related C3 botulinum toxin substrate 1 (sprot)


ANGL1_HUMAN Angiopoietin-related protein 1 (sprot)


CAH13_HUMAN Carbonic anhydrase 13 (sprot)


T106B_HUMAN Transmembrane protein 106B (sprot)


DISP1_HUMAN Protein dispatched homolog 1 (sprot)


CLCN5_HUMAN H(+)/Cl(-) exchange transporter 5 (sprot)


GPR88_HUMAN Probable G-protein coupled receptor 88 (sprot)


SOX3_HUMAN Transcription factor SOX-3 (sprot)


renal tubular acidosis, distal, 3, with or without sensorineural hearing loss


LRP10_HUMAN Low-density lipoprotein receptor-related protein 10 (sprot)


TIF1B_HUMAN Transcription intermediary factor 1-beta (sprot)


RFXK_HUMAN DNA-binding protein RFXANK (sprot)


autosomal dominant nonsyndromic hearing loss 4B


HPCA_HUMAN Neuron-specific calcium-binding protein hippocalcin (sprot)


AZIN1_HUMAN Antizyme inhibitor 1 (sprot)


TNF10_HUMAN Tumor necrosis factor ligand superfamily member 10 (sprot)


STEAL_HUMAN STEAP family member 1B (sprot)


AN32C_HUMAN Acidic leucine-rich nuclear phosphoprotein 32 family member C (sprot)


GEM_HUMAN GTP-binding protein GEM (sprot)


GSTA3_HUMAN Glutathione S-transferase A3 (sprot)


CCD42_HUMAN Coiled-coil domain-containing protein 42 (sprot)


MA6D1_HUMAN MAP6 domain-containing protein 1 (sprot)


FOXJ2_HUMAN Forkhead box protein J2 (sprot)


THOC5_HUMAN THO complex subunit 5 homolog (sprot)


KI2LB_HUMAN Killer cell immunoglobulin-like receptor 2DL5B (sprot)


GBG4_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4 (sprot)


TRAF7_HUMAN E3 ubiquitin-protein ligase TRAF7 (sprot)


SO1B3_HUMAN Solute carrier organic anion transporter family member 1B3 (sprot)


CKLF_HUMAN Chemokine-like factor (sprot)


DCST2_HUMAN DC-STAMP domain-containing protein 2 (sprot)


XIRP2_HUMAN Xin actin-binding repeat-containing protein 2 (sprot)


SG1D2_HUMAN Secretoglobin family 1D member 2 (sprot)


SYDC_HUMAN Aspartate--tRNA ligase, cytoplasmic (sprot)


TDRD3_HUMAN Tudor domain-containing protein 3 (sprot)


PCOC1_HUMAN Procollagen C-endopeptidase enhancer 1 (sprot)


ARP2_HUMAN Actin-related protein 2 (sprot)


TRH_HUMAN Pro-thyrotropin-releasing hormone (sprot)


TBX4_HUMAN T-box transcription factor TBX4 (sprot)


DC2I2_HUMAN Cytoplasmic dynein 2 intermediate chain 2 (sprot)


PTPR2_HUMAN Receptor-type tyrosine-protein phosphatase N2 (sprot)


RPAP1_HUMAN RNA polymerase II-associated protein 1 (sprot)


TRIM2_HUMAN Tripartite motif-containing protein 2 (sprot)


ACTT2_HUMAN Actin-related protein T2 (sprot)


autosomal recessive lower motor neuron disease with childhood onset


RMP_HUMAN Unconventional prefoldin RPB5 interactor 1 (sprot)


PTBP3_HUMAN Polypyrimidine tract-binding protein 3 (sprot)


PK2L2_HUMAN Polycystic kidney disease 2-like 2 protein (sprot)


polyarticular juvenile rheumatoid arthritis


MSTN1_HUMAN Musculoskeletal embryonic nuclear protein 1 (sprot)


LIN7C_HUMAN Protein lin-7 homolog C (sprot)


BASP1_HUMAN Brain acid soluble protein 1 (sprot)


TYY1_HUMAN Transcriptional repressor protein YY1 (sprot)


CXG2_HUMAN Gap junction gamma-2 protein (sprot)


PAG15_HUMAN Phospholipase A2 group XV (sprot)


RAGE_HUMAN Advanced glycosylation end product-specific receptor (sprot)


PSB9_HUMAN Proteasome subunit beta type-9 (sprot)


DUS4_HUMAN Dual specificity protein phosphatase 4 (sprot)


ADA12_HUMAN Disintegrin and metalloproteinase domain-containing protein 12 (sprot)


MK04_HUMAN Mitogen-activated protein kinase 4 (sprot)


TAF1A_HUMAN TATA box-binding protein-associated factor RNA polymerase I subunit A (sprot)


PDES1_HUMAN Plasmanylethanolamine desaturase (sprot)


autosomal dominant cerebellar ataxia type I


STA5A_HUMAN Signal transducer and activator of transcription 5A (sprot)


SC6A8_HUMAN Sodium- and chloride-dependent creatine transporter 1 (sprot)


KCNH6_HUMAN Potassium voltage-gated channel subfamily H member 6 (sprot)


PI15_HUMAN Peptidase inhibitor 15 (sprot)


PRLD1_HUMAN PRELI domain-containing protein 1, mitochondrial (sprot)


GPC5B_HUMAN G-protein coupled receptor family C group 5 member B (sprot)


BCCIP_HUMAN BRCA2 and CDKN1A-interacting protein (sprot)


KHDC4_HUMAN KH homology domain-containing protein 4 (sprot)


CDIP1_HUMAN Cell death-inducing p53-target protein 1 (sprot)


SPTN5_HUMAN Spectrin beta chain, non-erythrocytic 5 (sprot)


LRRN2_HUMAN Leucine-rich repeat neuronal protein 2 (sprot)


RECQ4_HUMAN ATP-dependent DNA helicase Q4 (sprot)


LIMS2_HUMAN LIM and senescent cell antigen-like-containing domain protein 2 (sprot)


HIG1A_HUMAN HIG1 domain family member 1A, mitochondrial (sprot)


IGLL1_HUMAN Immunoglobulin lambda-like polypeptide 1 (sprot)


ZNG1A_HUMAN Zinc-regulated GTPase metalloprotein activator 1A (sprot)


TEX28_HUMAN Testis-specific protein TEX28 (sprot)


AN32A_HUMAN Acidic leucine-rich nuclear phosphoprotein 32 family member A (sprot)


ABC3A_HUMAN DNA dC->dU-editing enzyme APOBEC-3A (sprot)


SENP1_HUMAN Sentrin-specific protease 1 (sprot)


ZN510_HUMAN Zinc finger protein 510 (sprot)


ST1C3_HUMAN Sulfotransferase 1C3 (sprot)


ZNF8_HUMAN Zinc finger protein 8 (sprot)


DMTA2_HUMAN Doublesex- and mab-3-related transcription factor A2 (sprot)


MKS1_HUMAN Tectonic-like complex member MKS1 (sprot)


UAP1_HUMAN UDP-N-acetylhexosamine pyrophosphorylase (sprot)


TRAF3_HUMAN TNF receptor-associated factor 3 (sprot)


SRGP1_HUMAN SLIT-ROBO Rho GTPase-activating protein 1 (sprot)


CATR1_HUMAN CATR tumorigenic conversion 1 protein (sprot)


CEBPA_HUMAN CCAAT/enhancer-binding protein alpha (sprot)


NBAS_HUMAN NBAS subunit of NRZ tethering complex (sprot)


OMA1_HUMAN Metalloendopeptidase OMA1, mitochondrial (sprot)


PUS7L_HUMAN Pseudouridylate synthase PUS7L (sprot)


pretibial dystrophic epidermolysis bullosa


ADA19_HUMAN Disintegrin and metalloproteinase domain-containing protein 19 (sprot)


early-onset myopathy with fatal cardiomyopathy


UBP24_HUMAN Ubiquitin carboxyl-terminal hydrolase 24 (sprot)


VAX1_HUMAN Ventral anterior homeobox 1 (sprot)


CASL_HUMAN Enhancer of filamentation 1 (sprot)


PEA15_HUMAN Astrocytic phosphoprotein PEA-15 (sprot)


SLUR1_HUMAN Secreted Ly-6/uPAR-related protein 1 (sprot)


MARH4_HUMAN E3 ubiquitin-protein ligase MARCHF4 (sprot)


ACTH_HUMAN Actin, gamma-enteric smooth muscle (sprot)


EDNRA_HUMAN Endothelin-1 receptor (sprot)


DMBT1_HUMAN Deleted in malignant brain tumors 1 protein (sprot)


TPX2_HUMAN Targeting protein for Xklp2 (sprot)


MAGBI_HUMAN Melanoma-associated antigen B18 (sprot)


RN103_HUMAN E3 ubiquitin-protein ligase RNF103 (sprot)


PCDGJ_HUMAN Protocadherin gamma-B7 (sprot)


CX6B1_HUMAN Cytochrome c oxidase subunit 6B1 (sprot)


SC5AA_HUMAN Sodium/glucose cotransporter 5 (sprot)


NAA35_HUMAN N-alpha-acetyltransferase 35, NatC auxiliary subunit (sprot)


DGKD_HUMAN Diacylglycerol kinase delta (sprot)


SAP25_HUMAN Histone deacetylase complex subunit SAP25 (sprot)


EEPD1_HUMAN Endonuclease/exonuclease/phosphatase family domain-containing protein 1 (sprot)


RO52_HUMAN E3 ubiquitin-protein ligase TRIM21 (sprot)


OSTM1_HUMAN Osteopetrosis-associated transmembrane protein 1 (sprot)


SMAD9_HUMAN Mothers against decapentaplegic homolog 9 (sprot)


DYH10_HUMAN Dynein axonemal heavy chain 10 (sprot)


primary melanoma of the central nervous system