SGTA_HUMAN Small glutamine-rich tetratricopeptide repeat-containing protein alpha (sprot)


ZMYM2_HUMAN Zinc finger MYM-type protein 2 (sprot)


ASXL3_HUMAN Putative Polycomb group protein ASXL3 (sprot)


ADT4_HUMAN ADP/ATP translocase 4 (sprot)


OTOP2_HUMAN Proton channel OTOP2 (sprot)


G6PE_HUMAN GDH/6PGL endoplasmic bifunctional protein (sprot)


PSMD8_HUMAN 26S proteasome non-ATPase regulatory subunit 8 (sprot)


ATS6_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 6 (sprot)


AA2BR_HUMAN Adenosine receptor A2b (sprot)


MSS51_HUMAN Putative protein MSS51 homolog, mitochondrial (sprot)


MMP19_HUMAN Matrix metalloproteinase-19 (sprot)


BD1L1_HUMAN Biorientation of chromosomes in cell division protein 1-like 1 (sprot)


HDC_HUMAN Headcase protein homolog (sprot)


GBRG2_HUMAN Gamma-aminobutyric acid receptor subunit gamma-2 (sprot)


BNIP3_HUMAN BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 (sprot)


DPOD3_HUMAN DNA polymerase delta subunit 3 (sprot)


DNJB2_HUMAN DnaJ homolog subfamily B member 2 (sprot)


AT1A2_HUMAN Sodium/potassium-transporting ATPase subunit alpha-2 (sprot)


FSD2_HUMAN Fibronectin type III and SPRY domain-containing protein 2 (sprot)


MSRB1_HUMAN Methionine-R-sulfoxide reductase B1 (sprot)


VWCE_HUMAN von Willebrand factor C and EGF domain-containing protein (sprot)


PBX3_HUMAN Pre-B-cell leukemia transcription factor 3 (sprot)


RT14_HUMAN 28S ribosomal protein S14, mitochondrial (sprot)


COX18_HUMAN Cytochrome c oxidase assembly protein COX18, mitochondrial (sprot)


PSG11_HUMAN Pregnancy-specific beta-1-glycoprotein 11 (sprot)


CLC4D_HUMAN C-type lectin domain family 4 member D (sprot)


STAR_HUMAN Steroidogenic acute regulatory protein, mitochondrial (sprot)


KS6A6_HUMAN Ribosomal protein S6 kinase alpha-6 (sprot)


DQA1_HUMAN HLA class II histocompatibility antigen, DQ alpha 1 chain (sprot)


DUS23_HUMAN Dual specificity protein phosphatase 23 (sprot)


OPA3_HUMAN Optic atrophy 3 protein (sprot)


PACR_HUMAN Pituitary adenylate cyclase-activating polypeptide type I receptor (sprot)


EFMT2_HUMAN EEF1A lysine methyltransferase 2 (sprot)


MGST3_HUMAN Microsomal glutathione S-transferase 3 (sprot)


ERF3A_HUMAN Eukaryotic peptide chain release factor GTP-binding subunit ERF3A (sprot)


PANK4_HUMAN 4'-phosphopantetheine phosphatase (sprot)


ETV7_HUMAN Transcription factor ETV7 (sprot)


PERP_HUMAN p53 apoptosis effector related to PMP-22 (sprot)


autosomal recessive spinocerebellar ataxia 16


LGAT1_HUMAN Acyl-CoA:lysophosphatidylglycerol acyltransferase 1 (sprot)


PGSF1_HUMAN Putative uncharacterized protein encoded by MIR7-3HG (sprot)


ZMY15_HUMAN Zinc finger MYND domain-containing protein 15 (sprot)


AP1AR_HUMAN AP-1 complex-associated regulatory protein (sprot)


BEND2_HUMAN BEN domain-containing protein 2 (sprot)


AAAT_HUMAN Neutral amino acid transporter B(0) (sprot)


CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator (sprot)


C1S_HUMAN Complement C1s subcomponent (sprot)


TR10D_HUMAN Tumor necrosis factor receptor superfamily member 10D (sprot)


P4HA2_HUMAN Prolyl 4-hydroxylase subunit alpha-2 (sprot)


ABHD4_HUMAN (Lyso)-N-acylphosphatidylethanolamine lipase (sprot)


KIRR3_HUMAN Kin of IRRE-like protein 3 (sprot)


ELP5_HUMAN Elongator complex protein 5 (sprot)


COVID-19–associated multisystem inflammatory syndrome in children


HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger-containing protein 1 (sprot)


NUMA1_HUMAN Nuclear mitotic apparatus protein 1 (sprot)


LMAN2_HUMAN Vesicular integral-membrane protein VIP36 (sprot)


LARP6_HUMAN La-related protein 6 (sprot)


SL9A6_HUMAN Sodium/hydrogen exchanger 6 (sprot)


KAISO_HUMAN Transcriptional regulator Kaiso (sprot)


PTHD4_HUMAN Patched domain-containing protein 4 (sprot)


ZNRF4_HUMAN E3 ubiquitin-protein ligase ZNRF4 (sprot)


DHX32_HUMAN Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 (sprot)


PCMD1_HUMAN Protein-L-isoaspartate O-methyltransferase domain-containing protein 1 (sprot)


ETFB_HUMAN Electron transfer flavoprotein subunit beta (sprot)


FRMD8_HUMAN FERM domain-containing protein 8 (sprot)


WDR13_HUMAN WD repeat-containing protein 13 (sprot)


RFX4_HUMAN Transcription factor RFX4 (sprot)


ZDH11_HUMAN Palmitoyltransferase ZDHHC11 (sprot)


P4K2A_HUMAN Phosphatidylinositol 4-kinase type 2-alpha (sprot)


DDX21_HUMAN Nucleolar RNA helicase 2 (sprot)


PCFT_HUMAN Proton-coupled folate transporter (sprot)


HOME2_HUMAN Homer protein homolog 2 (sprot)


MSRE_HUMAN Macrophage scavenger receptor types I and II (sprot)


X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia


TM9S1_HUMAN Transmembrane 9 superfamily member 1 (sprot)


TIFA_HUMAN TRAF-interacting protein with FHA domain-containing protein A (sprot)


SNAI1_HUMAN Zinc finger protein SNAI1 (sprot)


ARL10_HUMAN ADP-ribosylation factor-like protein 10 (sprot)


ALDOC_HUMAN Fructose-bisphosphate aldolase C (sprot)


FCG2B_HUMAN Low affinity immunoglobulin gamma Fc region receptor II-b (sprot)


HSC20_HUMAN Iron-sulfur cluster co-chaperone protein HscB (sprot)


DOPP1_HUMAN Dolichyldiphosphatase 1 (sprot)


HAUS6_HUMAN HAUS augmin-like complex subunit 6 (sprot)


TMM70_HUMAN Transmembrane protein 70, mitochondrial (sprot)


CD6_HUMAN T-cell differentiation antigen CD6 (sprot)


FXRD1_HUMAN FAD-dependent oxidoreductase domain-containing protein 1 (sprot)


TBA4A_HUMAN Tubulin alpha-4A chain (sprot)


LSM10_HUMAN U7 snRNA-associated Sm-like protein LSm10 (sprot)


CH3L1_HUMAN Chitinase-3-like protein 1 (sprot)


PDIP3_HUMAN Polymerase delta-interacting protein 3 (sprot)


NOTC2_HUMAN Neurogenic locus notch homolog protein 2 (sprot)


UBCP1_HUMAN Ubiquitin-like domain-containing CTD phosphatase 1 (sprot)


BRNP3_HUMAN BMP/retinoic acid-inducible neural-specific protein 3 (sprot)


inherited glutathione metabolism disease


APT_HUMAN Adenine phosphoribosyltransferase (sprot)


PJA2_HUMAN E3 ubiquitin-protein ligase Praja-2 (sprot)


RL13_HUMAN 60S ribosomal protein L13 (sprot)


M3K12_HUMAN Mitogen-activated protein kinase kinase kinase 12 (sprot)


CSRN1_HUMAN Cysteine/serine-rich nuclear protein 1 (sprot)


GGA1_HUMAN ADP-ribosylation factor-binding protein GGA1 (sprot)


LUZP1_HUMAN Leucine zipper protein 1 (sprot)


GPHB5_HUMAN Glycoprotein hormone beta-5 (sprot)


USF2_HUMAN Upstream stimulatory factor 2 (sprot)


RAB36_HUMAN Ras-related protein Rab-36 (sprot)


FBX50_HUMAN F-box only protein 50 (sprot)


ZN224_HUMAN Zinc finger protein 224 (sprot)


RFX1_HUMAN MHC class II regulatory factor RFX1 (sprot)


NPRL2_HUMAN GATOR complex protein NPRL2 (sprot)


CBX1_HUMAN Chromobox protein homolog 1 (sprot)


TRIM6_HUMAN Tripartite motif-containing protein 6 (sprot)


3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 (sprot)


K1C19_HUMAN Keratin, type I cytoskeletal 19 (sprot)


ARAP1_HUMAN Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 (sprot)


DEC1_HUMAN Deleted in esophageal cancer 1 (sprot)


B2CL1_HUMAN Bcl-2-like protein 1 (sprot)


AVEN_HUMAN Cell death regulator Aven (sprot)


CACB1_HUMAN Voltage-dependent L-type calcium channel subunit beta-1 (sprot)


SOSB2_HUMAN SOSS complex subunit B2 (sprot)


PTCRA_HUMAN Pre T-cell antigen receptor alpha (sprot)


ASGR1_HUMAN Asialoglycoprotein receptor 1 (sprot)


ADCY1_HUMAN Adenylate cyclase type 1 (sprot)


LONF2_HUMAN LON peptidase N-terminal domain and RING finger protein 2 (sprot)


DRB1_HUMAN HLA class II histocompatibility antigen, DRB1 beta chain (sprot)


CEMP1_HUMAN Cementoblastoma-derived protein 1 (sprot)


OR1A2_HUMAN Olfactory receptor 1A2 (sprot)


SCD5_HUMAN Stearoyl-CoA desaturase 5 (sprot)


TAF6L_HUMAN TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L (sprot)


CO7A1_HUMAN Collagen alpha-1(VII) chain (sprot)


RM04_HUMAN 39S ribosomal protein L4, mitochondrial (sprot)


CYB5B_HUMAN Cytochrome b5 type B (sprot)


pediatric acute respiratory distress syndrome


DDRGK_HUMAN DDRGK domain-containing protein 1 (sprot)


BNIP2_HUMAN BCL2/adenovirus E1B 19 kDa protein-interacting protein 2 (sprot)


KPCD3_HUMAN Serine/threonine-protein kinase D3 (sprot)


FOLR3_HUMAN Folate receptor gamma (sprot)


THAP9_HUMAN DNA transposase THAP9 (sprot)


STK11_HUMAN Serine/threonine-protein kinase STK11 (sprot)


API5_HUMAN Apoptosis inhibitor 5 (sprot)


EAA2_HUMAN Excitatory amino acid transporter 2 (sprot)


RBBP6_HUMAN E3 ubiquitin-protein ligase RBBP6 (sprot)


EPHA7_HUMAN Ephrin type-A receptor 7 (sprot)


CD006_HUMAN Uncharacterized protein encoded by LINC01587 (sprot)


RBP10_HUMAN Ran-binding protein 10 (sprot)


MARH3_HUMAN E3 ubiquitin-protein ligase MARCHF3 (sprot)


GOG7B_HUMAN Golgin subfamily A member 7B (sprot)


ABHGA_HUMAN Phosphatidylserine lipase ABHD16A (sprot)


TEAD3_HUMAN Transcriptional enhancer factor TEF-5 (sprot)


RBM47_HUMAN RNA-binding protein 47 (sprot)


alopecia-intellectual disability syndrome 1


TAPT1_HUMAN Transmembrane anterior posterior transformation protein 1 homolog (sprot)


PRS6B_HUMAN 26S proteasome regulatory subunit 6B (sprot)


MEI1_HUMAN Meiosis inhibitor protein 1 (sprot)


MOB3A_HUMAN MOB kinase activator 3A (sprot)


PCF11_HUMAN Pre-mRNA cleavage complex 2 protein Pcf11 (sprot)


TVB79_HUMAN T cell receptor beta variable 7-9 (sprot)


BRAT1_HUMAN BRCA1-associated ATM activator 1 (sprot)


PCAT2_HUMAN Lysophosphatidylcholine acyltransferase 2 (sprot)


RT18B_HUMAN 28S ribosomal protein S18b, mitochondrial (sprot)


SPRE1_HUMAN Sprouty-related, EVH1 domain-containing protein 1 (sprot)


MTMR1_HUMAN Myotubularin-related protein 1 (sprot)


ANR12_HUMAN Ankyrin repeat domain-containing protein 12 (sprot)


ALS_HUMAN Insulin-like growth factor-binding protein complex acid labile subunit (sprot)


SSX6_HUMAN Putative protein SSX6 (sprot)


I2BP2_HUMAN Interferon regulatory factor 2-binding protein 2 (sprot)


KLHL4_HUMAN Kelch-like protein 4 (sprot)


MOT1_HUMAN Monocarboxylate transporter 1 (sprot)


TT21B_HUMAN Tetratricopeptide repeat protein 21B (sprot)


MPI-congenital disorder of glycosylation


NTCP2_HUMAN Ileal sodium/bile acid cotransporter (sprot)


CBPA3_HUMAN Mast cell carboxypeptidase A (sprot)


MMP17_HUMAN Matrix metalloproteinase-17 (sprot)


FWCH1_HUMAN FLYWCH-type zinc finger-containing protein 1 (sprot)


PAR2_HUMAN Proteinase-activated receptor 2 (sprot)


DDT4L_HUMAN DNA damage-inducible transcript 4-like protein (sprot)


global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome


SIA7A_HUMAN Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (sprot)


PKHO1_HUMAN Pleckstrin homology domain-containing family O member 1 (sprot)


MAGB2_HUMAN Melanoma-associated antigen B2 (sprot)


TYW2_HUMAN tRNA wybutosine-synthesizing protein 2 homolog (sprot)


CDON_HUMAN Cell adhesion molecule-related/down-regulated by oncogenes (sprot)


MRCKA_HUMAN Serine/threonine-protein kinase MRCK alpha (sprot)


AR13B_HUMAN ADP-ribosylation factor-like protein 13B (sprot)


thyroid gland undifferentiated (anaplastic) carcinoma


MAPK3_HUMAN MAP kinase-activated protein kinase 3 (sprot)


CCD93_HUMAN Coiled-coil domain-containing protein 93 (sprot)


PIP30_HUMAN PSME3-interacting protein (sprot)


MUCL1_HUMAN Mucin-like protein 1 (sprot)


ADIP_HUMAN Afadin- and alpha-actinin-binding protein (sprot)


ZMAT4_HUMAN Zinc finger matrin-type protein 4 (sprot)


GCST_HUMAN Aminomethyltransferase, mitochondrial (sprot)


MIC13_HUMAN MICOS complex subunit MIC13 (sprot)


KCNK5_HUMAN Potassium channel subfamily K member 5 (sprot)


AUTS2_HUMAN Autism susceptibility gene 2 protein (sprot)


LAMP5_HUMAN Lysosome-associated membrane glycoprotein 5 (sprot)


CXA5_HUMAN Gap junction alpha-5 protein (sprot)


PLDX1_HUMAN Plexin domain-containing protein 1 (sprot)


CARTF_HUMAN Calcium-responsive transcription factor (sprot)


AAKG3_HUMAN 5'-AMP-activated protein kinase subunit gamma-3 (sprot)


ZBTB4_HUMAN Zinc finger and BTB domain-containing protein 4 (sprot)


ABTB3_HUMAN Ankyrin repeat and BTB/POZ domain-containing protein 3 (sprot)


NDUA2_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 (sprot)


ORC2_HUMAN Origin recognition complex subunit 2 (sprot)


DOCK7_HUMAN Dedicator of cytokinesis protein 7 (sprot)


MLF2_HUMAN Myeloid leukemia factor 2 (sprot)


PLAG1_HUMAN Zinc finger protein PLAG1 (sprot)


KITH_HUMAN Thymidine kinase, cytosolic (sprot)


HXB5_HUMAN Homeobox protein Hox-B5 (sprot)


DTWD1_HUMAN tRNA-uridine aminocarboxypropyltransferase 1 (sprot)


C99L2_HUMAN CD99 antigen-like protein 2 (sprot)


AT132_HUMAN Polyamine-transporting ATPase 13A2 (sprot)


chronic relapsing inflammatory optic neuropathy


DCP1B_HUMAN mRNA-decapping enzyme 1B (sprot)


spondyloepimetaphyseal dysplasia, Strudwick type


TRADD_HUMAN Tumor necrosis factor receptor type 1-associated DEATH domain protein (sprot)


SFR1_HUMAN Swi5-dependent recombination DNA repair protein 1 homolog (sprot)


syndactyly-telecanthus-anogenital and renal malformations syndrome


PI42B_HUMAN Phosphatidylinositol 5-phosphate 4-kinase type-2 beta (sprot)


SCAM1_HUMAN Secretory carrier-associated membrane protein 1 (sprot)


INKA2_HUMAN PAK4-inhibitor INKA2 (sprot)


TET5B_HUMAN Terminal nucleotidyltransferase 5B (sprot)


NGAL_HUMAN Neutrophil gelatinase-associated lipocalin (sprot)


PRP1_HUMAN Basic salivary proline-rich protein 1 (sprot)


NEK6_HUMAN Serine/threonine-protein kinase Nek6 (sprot)


OPSB_HUMAN Short-wave-sensitive opsin 1 (sprot)


BMPER_HUMAN BMP-binding endothelial regulator protein (sprot)


familial isolated dilated cardiomyopathy


S38A6_HUMAN Probable sodium-coupled neutral amino acid transporter 6 (sprot)


PTCD1_HUMAN Pentatricopeptide repeat-containing protein 1, mitochondrial (sprot)


TBC17_HUMAN TBC1 domain family member 17 (sprot)


MTMR3_HUMAN Myotubularin-related protein 3 (sprot)


FAP24_HUMAN Fanconi anemia core complex-associated protein 24 (sprot)


UFSP1_HUMAN Inactive Ufm1-specific protease 1 (sprot)


S15A5_HUMAN Solute carrier family 15 member 5 (sprot)


AMRP_HUMAN Alpha-2-macroglobulin receptor-associated protein (sprot)


VAC14_HUMAN Protein VAC14 homolog (sprot)


INT3_HUMAN Integrator complex subunit 3 (sprot)


MEP1A_HUMAN Meprin A subunit alpha (sprot)


LDAF1_HUMAN Lipid droplet assembly factor 1 (sprot)


TMA7_HUMAN Translation machinery-associated protein 7 (sprot)


Ehlers-Danlos syndrome, kyphoscoliotic type 1


NVL_HUMAN Nuclear valosin-containing protein-like (sprot)


MYO5C_HUMAN Unconventional myosin-Vc (sprot)


PCAT1_HUMAN Lysophosphatidylcholine acyltransferase 1 (sprot)


TPK1_HUMAN Thiamin pyrophosphokinase 1 (sprot)


PA2GA_HUMAN Phospholipase A2, membrane associated (sprot)


PK2L1_HUMAN Polycystic kidney disease 2-like 1 protein (sprot)


SRMS_HUMAN Tyrosine-protein kinase Srms (sprot)


DDX49_HUMAN Probable ATP-dependent RNA helicase DDX49 (sprot)


CERT_HUMAN Ceramide transfer protein (sprot)


LYG2_HUMAN Lysozyme g-like protein 2 (sprot)


GOGA5_HUMAN Golgin subfamily A member 5 (sprot)


CDC26_HUMAN Anaphase-promoting complex subunit CDC26 (sprot)


ARI5B_HUMAN AT-rich interactive domain-containing protein 5B (sprot)


PEX7_HUMAN Peroxisomal targeting signal 2 receptor (sprot)


GPX8_HUMAN Probable glutathione peroxidase 8 (sprot)


RPGF4_HUMAN Rap guanine nucleotide exchange factor 4 (sprot)


CD1C_HUMAN T-cell surface glycoprotein CD1c (sprot)


SIGL6_HUMAN Sialic acid-binding Ig-like lectin 6 (sprot)


COPB_HUMAN Coatomer subunit beta (sprot)


IF4E3_HUMAN Eukaryotic translation initiation factor 4E type 3 (sprot)


ZC12C_HUMAN Probable ribonuclease ZC3H12C (sprot)


scapuloperoneal spinal muscular atrophy, autosomal dominant


PGRC2_HUMAN Membrane-associated progesterone receptor component 2 (sprot)


KLH36_HUMAN Kelch-like protein 36 (sprot)


TPPP_HUMAN Tubulin polymerization-promoting protein (sprot)


CAMP3_HUMAN Calmodulin-regulated spectrin-associated protein 3 (sprot)


CE120_HUMAN Centrosomal protein of 120 kDa (sprot)


ERAP1_HUMAN Endoplasmic reticulum aminopeptidase 1 (sprot)


GET4_HUMAN Golgi to ER traffic protein 4 homolog (sprot)


diffuse idiopathic skeletal hyperostosis


SPY4_HUMAN Protein sprouty homolog 4 (sprot)


TBR1_HUMAN T-box brain protein 1 (sprot)


PPLA_HUMAN Cardiac phospholamban (sprot)


FEM1C_HUMAN Protein fem-1 homolog C (sprot)


TTC13_HUMAN Tetratricopeptide repeat protein 13 (sprot)


WDFY4_HUMAN WD repeat- and FYVE domain-containing protein 4 (sprot)


sarcomatoid penile squamous cell carcinoma


adenosine monophosphate deaminase deficiency


Abnormality of the autonomic nervous system


MKNK1_HUMAN MAP kinase-interacting serine/threonine-protein kinase 1 (sprot)


RBM48_HUMAN RNA-binding protein 48 (sprot)


ADCK2_HUMAN Uncharacterized aarF domain-containing protein kinase 2 (sprot)


O2AP1_HUMAN Olfactory receptor 2AP1 (sprot)


IL1R2_HUMAN Interleukin-1 receptor type 2 (sprot)


TRI10_HUMAN Tripartite motif-containing protein 10 (sprot)


RGP1_HUMAN RAB6A-GEF complex partner protein 2 (sprot)


primary familial polycythemia due to EPO receptor mutation


O14I1_HUMAN Olfactory receptor 14I1 (sprot)


KLRB1_HUMAN Killer cell lectin-like receptor subfamily B member 1 (sprot)


TMM8B_HUMAN Transmembrane protein 8B (sprot)


COMD9_HUMAN COMM domain-containing protein 9 (sprot)


ACAD8_HUMAN Isobutyryl-CoA dehydrogenase, mitochondrial (sprot)


GMEB1_HUMAN Glucocorticoid modulatory element-binding protein 1 (sprot)


ING1_HUMAN Inhibitor of growth protein 1 (sprot)


KCMB1_HUMAN Calcium-activated potassium channel subunit beta-1 (sprot)


NPAS3_HUMAN Neuronal PAS domain-containing protein 3 (sprot)


S12A5_HUMAN Solute carrier family 12 member 5 (sprot)


NDKM_HUMAN Nucleoside diphosphate kinase, mitochondrial (sprot)


MTA1_HUMAN Metastasis-associated protein MTA1 (sprot)


ABCA8_HUMAN ABC-type organic anion transporter ABCA8 (sprot)


LRP5_HUMAN Low-density lipoprotein receptor-related protein 5 (sprot)


ABCA1_HUMAN Phospholipid-transporting ATPase ABCA1 (sprot)


RM40_HUMAN 39S ribosomal protein L40, mitochondrial (sprot)


PGCB_HUMAN Brevican core protein (sprot)


UBAP2_HUMAN Ubiquitin-associated protein 2 (sprot)


HNRPC_HUMAN Heterogeneous nuclear ribonucleoproteins C1/C2 (sprot)


NXT1_HUMAN NTF2-related export protein 1 (sprot)


ASTL_HUMAN Astacin-like metalloendopeptidase (sprot)


CELA1_HUMAN Chymotrypsin-like elastase family member 1 (sprot)


MAGA9_HUMAN Melanoma-associated antigen 9 (sprot)


TCAIM_HUMAN T-cell activation inhibitor, mitochondrial (sprot)


FREM2_HUMAN FRAS1-related extracellular matrix protein 2 (sprot)


T22D1_HUMAN TSC22 domain family protein 1 (sprot)


A16L1_HUMAN Autophagy-related protein 16-1 (sprot)


AGRA2_HUMAN Adhesion G protein-coupled receptor A2 (sprot)


CCD91_HUMAN Coiled-coil domain-containing protein 91 (sprot)


TM11D_HUMAN Transmembrane protease serine 11D (sprot)


GATA6_HUMAN Transcription factor GATA-6 (sprot)


PRKN_HUMAN E3 ubiquitin-protein ligase parkin (sprot)


BLCAP_HUMAN Bladder cancer-associated protein (sprot)


BNIPL_HUMAN Bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein (sprot)


ZN667_HUMAN Zinc finger protein 667 (sprot)


TNI3K_HUMAN Serine/threonine-protein kinase TNNI3K (sprot)


VKGC_HUMAN Vitamin K-dependent gamma-carboxylase (sprot)


COQ2_HUMAN 4-hydroxybenzoate polyprenyltransferase, mitochondrial (sprot)


CTR2_HUMAN Cationic amino acid transporter 2 (sprot)


ATF4_HUMAN Cyclic AMP-dependent transcription factor ATF-4 (sprot)


DCAF4_HUMAN DDB1- and CUL4-associated factor 4 (sprot)


TRI39_HUMAN E3 ubiquitin-protein ligase TRIM39 (sprot)


LRRF2_HUMAN Leucine-rich repeat flightless-interacting protein 2 (sprot)


CATC_HUMAN Dipeptidyl peptidase 1 (sprot)


PBX2_HUMAN Pre-B-cell leukemia transcription factor 2 (sprot)


RORG_HUMAN Nuclear receptor ROR-gamma (sprot)


acute myeloblastic leukemia without maturation


MFS2B_HUMAN Sphingosine-1-phosphate transporter MFSD2B (sprot)


MAMC2_HUMAN MAM domain-containing protein 2 (sprot)


FLVC2_HUMAN Feline leukemia virus subgroup C receptor-related protein 2 (sprot)


CHKB_HUMAN Choline/ethanolamine kinase (sprot)


BAT1_HUMAN b(0,+)-type amino acid transporter 1 (sprot)


COPRS_HUMAN Coordinator of PRMT5 and differentiation stimulator (sprot)


REEP6_HUMAN Receptor expression-enhancing protein 6 (sprot)


RPB2_HUMAN DNA-directed RNA polymerase II subunit RPB2 (sprot)


BCAM_HUMAN Basal cell adhesion molecule (sprot)


autosomal dominant cerebellar ataxia type III


GFRA4_HUMAN GDNF family receptor alpha-4 (sprot)


PARP6_HUMAN Protein mono-ADP-ribosyltransferase PARP6 (sprot)


ANKR2_HUMAN Ankyrin repeat domain-containing protein 2 (sprot)


DKK2_HUMAN Dickkopf-related protein 2 (sprot)


ZPI_HUMAN Protein Z-dependent protease inhibitor (sprot)


HMGN3_HUMAN High mobility group nucleosome-binding domain-containing protein 3 (sprot)


PKN2_HUMAN Serine/threonine-protein kinase N2 (sprot)


Androsta-1,4-diene-17-carboxylic acid, 6,9-difluoro-11-hydroxy-16-methyl-3-oxo-17-(((2,2,3,3-tetramethylcyclopropyl)carbonyl)oxy)-, cyanomethyl ester, (6alpha,11beta,16alpha,17alpha)-


A4_HUMAN Amyloid-beta precursor protein (sprot)


TMEM9_HUMAN Proton-transporting V-type ATPase complex assembly regulator TMEM9 (sprot)


SPT6H_HUMAN Transcription elongation factor SPT6 (sprot)


GMFB_HUMAN Glia maturation factor beta (sprot)


HXB7_HUMAN Homeobox protein Hox-B7 (sprot)


FXL16_HUMAN F-box/LRR-repeat protein 16 (sprot)


NPY2R_HUMAN Neuropeptide Y receptor type 2 (sprot)


CXL11_HUMAN C-X-C motif chemokine 11 (sprot)


HCST_HUMAN Hematopoietic cell signal transducer (sprot)


LTN1_HUMAN E3 ubiquitin-protein ligase listerin (sprot)


GPR85_HUMAN Probable G-protein coupled receptor 85 (sprot)


UBC12_HUMAN NEDD8-conjugating enzyme Ubc12 (sprot)


LDB3_HUMAN LIM domain-binding protein 3 (sprot)


OSBL3_HUMAN Oxysterol-binding protein-related protein 3 (sprot)


HCN4_HUMAN Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 (sprot)


ACO12_HUMAN Acetyl-coenzyme A thioesterase (sprot)


RB39A_HUMAN Ras-related protein Rab-39A (sprot)


KCD15_HUMAN BTB/POZ domain-containing protein KCTD15 (sprot)


ZCHC9_HUMAN Zinc finger CCHC domain-containing protein 9 (sprot)


PURA1_HUMAN Adenylosuccinate synthetase isozyme 1 (sprot)


GCSP_HUMAN Glycine dehydrogenase (decarboxylating), mitochondrial (sprot)


SPAT5_HUMAN Ribosome biogenesis protein SPATA5 (sprot)


ASIC1_HUMAN Acid-sensing ion channel 1 (sprot)


FMO5_HUMAN Flavin-containing monooxygenase 5 (sprot)


IFIT2_HUMAN Interferon-induced protein with tetratricopeptide repeats 2 (sprot)


SPIR1_HUMAN Protein spire homolog 1 (sprot)


GDIR3_HUMAN Rho GDP-dissociation inhibitor 3 (sprot)


NKD2_HUMAN Protein naked cuticle homolog 2 (sprot)


DNAI2_HUMAN Dynein axonemal intermediate chain 2 (sprot)


ARAP2_HUMAN Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 (sprot)


SPI1_HUMAN Transcription factor PU.1 (sprot)


ITIH5_HUMAN Inter-alpha-trypsin inhibitor heavy chain H5 (sprot)


ROAA_HUMAN Heterogeneous nuclear ribonucleoprotein A/B (sprot)


NKX26_HUMAN Homeobox protein Nkx-2.6 (sprot)


TRML2_HUMAN Trem-like transcript 2 protein (sprot)


RNPS1_HUMAN RNA-binding protein with serine-rich domain 1 (sprot)


SC5A5_HUMAN Sodium/iodide cotransporter (sprot)


FOXG1_HUMAN Forkhead box protein G1 (sprot)


ECHD2_HUMAN Enoyl-CoA hydratase domain-containing protein 2, mitochondrial (sprot)


NOP2_HUMAN Probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase (sprot)


HSPB3_HUMAN Heat shock protein beta-3 (sprot)


NPFF2_HUMAN Neuropeptide FF receptor 2 (sprot)


VASH1_HUMAN Tubulinyl-Tyr carboxypeptidase 1 (sprot)


ARL5A_HUMAN ADP-ribosylation factor-like protein 5A (sprot)


ENR1_HUMAN Endogenous retrovirus group 3 member 1 Env polyprotein (sprot)


PI4KB_HUMAN Phosphatidylinositol 4-kinase beta (sprot)


PLCX3_HUMAN PI-PLC X domain-containing protein 3 (sprot)


PCX2_HUMAN Pecanex-like protein 2 (sprot)


IGKC_HUMAN Immunoglobulin kappa constant (sprot)


IFT88_HUMAN Intraflagellar transport protein 88 homolog (sprot)


ABCD4_HUMAN Lysosomal cobalamin transporter ABCD4 (sprot)


HBP1_HUMAN HMG box-containing protein 1 (sprot)


COX7R_HUMAN Cytochrome c oxidase subunit 7A-related protein, mitochondrial (sprot)


TCEA2_HUMAN Transcription elongation factor A protein 2 (sprot)


UBE3B_HUMAN Ubiquitin-protein ligase E3B (sprot)


RL8_HUMAN 60S ribosomal protein L8 (sprot)


RASLC_HUMAN Ras-like protein family member 12 (sprot)


CNGA3_HUMAN Cyclic nucleotide-gated cation channel alpha-3 (sprot)


AMFR_HUMAN E3 ubiquitin-protein ligase AMFR (sprot)


Disproportionate short-limb short stature


ENAH_HUMAN Protein enabled homolog (sprot)


SPD2A_HUMAN SH3 and PX domain-containing protein 2A (sprot)


STAM1_HUMAN Signal transducing adapter molecule 1 (sprot)


NKX61_HUMAN Homeobox protein Nkx-6.1 (sprot)


childhood central nervous system primitive neuroectodermal neoplasm


IRX1_HUMAN Iroquois-class homeodomain protein IRX-1 (sprot)


NALP5_HUMAN NACHT, LRR and PYD domains-containing protein 5 (sprot)


unilateral multicystic dysplastic kidney


OR8J1_HUMAN Olfactory receptor 8J1 (sprot)


ACOT8_HUMAN Acyl-coenzyme A thioesterase 8 (sprot)


PATL2_HUMAN Protein PAT1 homolog 2 (sprot)


NAT8_HUMAN N-acetyltransferase 8 (sprot)


INCE_HUMAN Inner centromere protein (sprot)


INT1_HUMAN Integrator complex subunit 1 (sprot)


GPR61_HUMAN G-protein coupled receptor 61 (sprot)


KCNH7_HUMAN Potassium voltage-gated channel subfamily H member 7 (sprot)


DAB2P_HUMAN Disabled homolog 2-interacting protein (sprot)


IBP3_HUMAN Insulin-like growth factor-binding protein 3 (sprot)


OCAD1_HUMAN OCIA domain-containing protein 1 (sprot)


DHSO_HUMAN Sorbitol dehydrogenase (sprot)


IDI2_HUMAN Isopentenyl-diphosphate delta-isomerase 2 (sprot)


AP5B1_HUMAN AP-5 complex subunit beta-1 (sprot)


SIKE1_HUMAN Suppressor of IKBKE 1 (sprot)


COLQ_HUMAN Acetylcholinesterase collagenic tail peptide (sprot)


LGUL_HUMAN Lactoylglutathione lyase (sprot)


NBL1_HUMAN Neuroblastoma suppressor of tumorigenicity 1 (sprot)


microcephalic osteodysplastic primordial dwarfism type II


familial juvenile hypertrophy of the breast


CUTC_HUMAN Copper homeostasis protein cutC homolog (sprot)


DIRA1_HUMAN GTP-binding protein Di-Ras1 (sprot)


TLX1_HUMAN T-cell leukemia homeobox protein 1 (sprot)


PURG_HUMAN Purine-rich element-binding protein gamma (sprot)


KBTB2_HUMAN Kelch repeat and BTB domain-containing protein 2 (sprot)


VTM2A_HUMAN V-set and transmembrane domain-containing protein 2A (sprot)


KI2S1_HUMAN Killer cell immunoglobulin-like receptor 2DS1 (sprot)


ATG13_HUMAN Autophagy-related protein 13 (sprot)


CENPA_HUMAN Histone H3-like centromeric protein A (sprot)


PEO1_HUMAN Twinkle mtDNA helicase (sprot)


DNJC3_HUMAN DnaJ homolog subfamily C member 3 (sprot)


PRI2_HUMAN DNA primase large subunit (sprot)


DEDD2_HUMAN DNA-binding death effector domain-containing protein 2 (sprot)


RNH2C_HUMAN Ribonuclease H2 subunit C (sprot)


T53G5_HUMAN TP53-target gene 5 protein (sprot)


NDK5_HUMAN Nucleoside diphosphate kinase homolog 5 (sprot)


CRUM2_HUMAN Protein crumbs homolog 2 (sprot)


NDK3_HUMAN Nucleoside diphosphate kinase 3 (sprot)


DELE1_HUMAN DAP3-binding cell death enhancer 1 (sprot)


TOX2_HUMAN TOX high mobility group box family member 2 (sprot)


IRAG1_HUMAN Inositol 1,4,5-triphosphate receptor associated 1 (sprot)


SPP2A_HUMAN Signal peptide peptidase-like 2A (sprot)


RPAC1_HUMAN DNA-directed RNA polymerases I and III subunit RPAC1 (sprot)


JSPR1_HUMAN Junctional sarcoplasmic reticulum protein 1 (sprot)


RS19_HUMAN 40S ribosomal protein S19 (sprot)


Z3H7B_HUMAN Zinc finger CCCH domain-containing protein 7B (sprot)


autoimmune polyendocrine syndrome type 1


LCAT_HUMAN Phosphatidylcholine-sterol acyltransferase (sprot)


sensory ataxic neuropathy, dysarthria, and ophthalmoparesis


COXM2_HUMAN COX assembly mitochondrial protein 2 homolog (sprot)


TIM8A_HUMAN Mitochondrial import inner membrane translocase subunit Tim8 A (sprot)


KCP_HUMAN Kielin/chordin-like protein (sprot)


TRABD_HUMAN TraB domain-containing protein (sprot)


CWC22_HUMAN Pre-mRNA-splicing factor CWC22 homolog (sprot)


SUV92_HUMAN Histone-lysine N-methyltransferase SUV39H2 (sprot)


RPA49_HUMAN DNA-directed RNA polymerase I subunit RPA49 (sprot)


hereditary sensory and autonomic neuropathy type 6


PEX16_HUMAN Peroxisomal membrane protein PEX16 (sprot)


ANTR2_HUMAN Anthrax toxin receptor 2 (sprot)


ZBED3_HUMAN Zinc finger BED domain-containing protein 3 (sprot)


X-linked distal hereditary motor neuropathy


PD2R_HUMAN Prostaglandin D2 receptor (sprot)


SMAP1_HUMAN Stromal membrane-associated protein 1 (sprot)


MSRB2_HUMAN Methionine-R-sulfoxide reductase B2, mitochondrial (sprot)


NALP4_HUMAN NACHT, LRR and PYD domains-containing protein 4 (sprot)


B4GN2_HUMAN Beta-1,4 N-acetylgalactosaminyltransferase 2 (sprot)


circadian rhythm sleep disorder, shift work type


FHOD1_HUMAN FH1/FH2 domain-containing protein 1 (sprot)


COCA1_HUMAN Collagen alpha-1(XII) chain (sprot)


PSPC_HUMAN Pulmonary surfactant-associated protein C (sprot)


GEMI8_HUMAN Gem-associated protein 8 (sprot)


MFRP_HUMAN Membrane frizzled-related protein (sprot)


FSTL1_HUMAN Follistatin-related protein 1 (sprot)


BPIB4_HUMAN BPI fold-containing family B member 4 (sprot)


STXB4_HUMAN Syntaxin-binding protein 4 (sprot)


autosomal recessive limb-girdle muscular dystrophy type 2E


DYH11_HUMAN Dynein axonemal heavy chain 11 (sprot)


SUV91_HUMAN Histone-lysine N-methyltransferase SUV39H1 (sprot)


S6A14_HUMAN Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) (sprot)


MIC27_HUMAN MICOS complex subunit MIC27 (sprot)


WFD12_HUMAN WAP four-disulfide core domain protein 12 (sprot)


RP1_HUMAN Oxygen-regulated protein 1 (sprot)


TMUB1_HUMAN Transmembrane and ubiquitin-like domain-containing protein 1 (sprot)


FGF5_HUMAN Fibroblast growth factor 5 (sprot)


PDE12_HUMAN 2',5'-phosphodiesterase 12 (sprot)


GANC_HUMAN Neutral alpha-glucosidase C (sprot)


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


LRC8A_HUMAN Volume-regulated anion channel subunit LRRC8A (sprot)


CANB1_HUMAN Calcineurin subunit B type 1 (sprot)


CP26C_HUMAN Cytochrome P450 26C1 (sprot)


B3A4_HUMAN Anion exchange protein 4 (sprot)


autosomal recessive limb-girdle muscular dystrophy type 2A


MED4_HUMAN Mediator of RNA polymerase II transcription subunit 4 (sprot)


5HT7R_HUMAN 5-hydroxytryptamine receptor 7 (sprot)


OAZ3_HUMAN Ornithine decarboxylase antizyme 3 (sprot)


HENMT_HUMAN Small RNA 2'-O-methyltransferase (sprot)


PP2AA_HUMAN Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform (sprot)


bacterial infectious disease with sepsis


NASP_HUMAN Nuclear autoantigenic sperm protein (sprot)


WDR44_HUMAN WD repeat-containing protein 44 (sprot)


FREM3_HUMAN FRAS1-related extracellular matrix protein 3 (sprot)


S2513_HUMAN Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial (sprot)


TCPG_HUMAN T-complex protein 1 subunit gamma (sprot)


BMP7_HUMAN Bone morphogenetic protein 7 (sprot)


AP3B2_HUMAN AP-3 complex subunit beta-2 (sprot)


SLF2_HUMAN SMC5-SMC6 complex localization factor protein 2 (sprot)


PCDB9_HUMAN Protocadherin beta-9 (sprot)


IGS21_HUMAN Immunoglobulin superfamily member 21 (sprot)


NDUV2_HUMAN NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial (sprot)


RIPK4_HUMAN Receptor-interacting serine/threonine-protein kinase 4 (sprot)


SRSF5_HUMAN Serine/arginine-rich splicing factor 5 (sprot)


CGAS_HUMAN Cyclic GMP-AMP synthase (sprot)


RHG26_HUMAN Rho GTPase-activating protein 26 (sprot)


HMMR_HUMAN Hyaluronan mediated motility receptor (sprot)


T126B_HUMAN Complex I assembly factor TMEM126B, mitochondrial (sprot)


KLH42_HUMAN Kelch-like protein 42 (sprot)


MBOA5_HUMAN Lysophospholipid acyltransferase 5 (sprot)


HLAC_HUMAN HLA class I histocompatibility antigen, C alpha chain (sprot)


RISC_HUMAN Retinoid-inducible serine carboxypeptidase (sprot)


deafness with labyrinthine aplasia, microtia, and microdontia


LTOR1_HUMAN Ragulator complex protein LAMTOR1 (sprot)


RHG22_HUMAN Rho GTPase-activating protein 22 (sprot)


FUT7_HUMAN Alpha-(1,3)-fucosyltransferase 7 (sprot)


CO6A1_HUMAN Collagen alpha-1(VI) chain (sprot)


BPI_HUMAN Bactericidal permeability-increasing protein (sprot)


EX3L2_HUMAN Exocyst complex component 3-like protein 2 (sprot)


FGD2_HUMAN FYVE, RhoGEF and PH domain-containing protein 2 (sprot)


BT3A3_HUMAN Butyrophilin subfamily 3 member A3 (sprot)


TMM53_HUMAN Transmembrane protein 53 (sprot)


MEDAG_HUMAN Mesenteric estrogen-dependent adipogenesis protein (sprot)


DNJC7_HUMAN DnaJ homolog subfamily C member 7 (sprot)


short-rib thoracic dysplasia 6 with or without polydactyly


PTN9_HUMAN Tyrosine-protein phosphatase non-receptor type 9 (sprot)


EBPL_HUMAN Emopamil-binding protein-like (sprot)


DAZP1_HUMAN DAZ-associated protein 1 (sprot)


SAMD8_HUMAN Sphingomyelin synthase-related protein 1 (sprot)


autosomal dominant hypohidrotic ectodermal dysplasia


G3BP2_HUMAN Ras GTPase-activating protein-binding protein 2 (sprot)


ITBP2_HUMAN Integrin beta-1-binding protein 2 (sprot)


FBX40_HUMAN F-box only protein 40 (sprot)


GDPD5_HUMAN Glycerophosphodiester phosphodiesterase domain-containing protein 5 (sprot)


EIF3A_HUMAN Eukaryotic translation initiation factor 3 subunit A (sprot)


X-linked central congenital hypothyroidism with late-onset testicular enlargement


NTCP_HUMAN Hepatic sodium/bile acid cotransporter (sprot)


ESRP2_HUMAN Epithelial splicing regulatory protein 2 (sprot)


CLLU1_HUMAN Chronic lymphocytic leukemia up-regulated protein 1 (sprot)


CENPM_HUMAN Centromere protein M (sprot)


KCNJ4_HUMAN Inward rectifier potassium channel 4 (sprot)


ANKH1_HUMAN Ankyrin repeat and KH domain-containing protein 1 (sprot)


SPS2_HUMAN Selenide, water dikinase 2 (sprot)


MTAP2_HUMAN Microtubule-associated protein 2 (sprot)


ARL5C_HUMAN Putative ADP-ribosylation factor-like protein 5C (sprot)


CORA1_HUMAN Collagen alpha-1(XXVII) chain (sprot)


MADD_HUMAN MAP kinase-activating death domain protein (sprot)


DPOE1_HUMAN DNA polymerase epsilon catalytic subunit A (sprot)


NB5R1_HUMAN NADH-cytochrome b5 reductase 1 (sprot)


PAAF1_HUMAN Proteasomal ATPase-associated factor 1 (sprot)


CDC5L_HUMAN Cell division cycle 5-like protein (sprot)


BMP3_HUMAN Bone morphogenetic protein 3 (sprot)


TM88B_HUMAN Transmembrane protein 88B (sprot)


SNPC4_HUMAN snRNA-activating protein complex subunit 4 (sprot)


HCN2_HUMAN Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 (sprot)


RRS1_HUMAN Ribosome biogenesis regulatory protein homolog (sprot)


TRBC2_HUMAN T cell receptor beta constant 2 (sprot)


CCAR2_HUMAN Cell cycle and apoptosis regulator protein 2 (sprot)


B2L12_HUMAN Bcl-2-like protein 12 (sprot)


MP2K5_HUMAN Dual specificity mitogen-activated protein kinase kinase 5 (sprot)


ZC12D_HUMAN Probable ribonuclease ZC3H12D (sprot)


GP101_HUMAN Probable G-protein coupled receptor 101 (sprot)


LSM1_HUMAN U6 snRNA-associated Sm-like protein LSm1 (sprot)


LHX5_HUMAN LIM/homeobox protein Lhx5 (sprot)


DJC28_HUMAN DnaJ homolog subfamily C member 28 (sprot)


DPP8_HUMAN Dipeptidyl peptidase 8 (sprot)


PRR13_HUMAN Proline-rich protein 13 (sprot)


autosomal recessive nonsyndromic hearing loss 31


HECW1_HUMAN E3 ubiquitin-protein ligase HECW1 (sprot)


LAT4_HUMAN Large neutral amino acids transporter small subunit 4 (sprot)


IOD3_HUMAN Thyroxine 5-deiodinase (sprot)


UBE3D_HUMAN E3 ubiquitin-protein ligase E3D (sprot)


FGF1_HUMAN Fibroblast growth factor 1 (sprot)


NRIP3_HUMAN Nuclear receptor-interacting protein 3 (sprot)


AR6P4_HUMAN ADP-ribosylation factor-like protein 6-interacting protein 4 (sprot)


LRIT1_HUMAN Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1 (sprot)


PP1R7_HUMAN Protein phosphatase 1 regulatory subunit 7 (sprot)


HTAI2_HUMAN Oxidoreductase HTATIP2 (sprot)


CSN1_HUMAN COP9 signalosome complex subunit 1 (sprot)


ERCC3_HUMAN General transcription and DNA repair factor IIH helicase subunit XPB (sprot)


CSN6_HUMAN COP9 signalosome complex subunit 6 (sprot)


TPC_HUMAN Mitochondrial thiamine pyrophosphate carrier (sprot)


ACOT9_HUMAN Acyl-coenzyme A thioesterase 9, mitochondrial (sprot)


TLCD1_HUMAN TLC domain-containing protein 1 (sprot)


CPSF5_HUMAN Cleavage and polyadenylation specificity factor subunit 5 (sprot)


FGF7_HUMAN Fibroblast growth factor 7 (sprot)


NT5D3_HUMAN 5'-nucleotidase domain-containing protein 3 (sprot)


UBP20_HUMAN Ubiquitin carboxyl-terminal hydrolase 20 (sprot)


corneal dystrophy-perceptive deafness syndrome


PIM1_HUMAN Serine/threonine-protein kinase pim-1 (sprot)


AN13C_HUMAN Ankyrin repeat domain-containing protein 13C (sprot)


TRBC1_HUMAN T cell receptor beta constant 1 (sprot)


ONEC3_HUMAN One cut domain family member 3 (sprot)


RAB5A_HUMAN Ras-related protein Rab-5A (sprot)


RN207_HUMAN RING finger protein 207 (sprot)


EMSY_HUMAN BRCA2-interacting transcriptional repressor EMSY (sprot)


DTX3L_HUMAN E3 ubiquitin-protein ligase DTX3L (sprot)


ZACN_HUMAN Zinc-activated ligand-gated ion channel (sprot)


STK16_HUMAN Serine/threonine-protein kinase 16 (sprot)


ILF3_HUMAN Interleukin enhancer-binding factor 3 (sprot)


H2B1K_HUMAN Histone H2B type 1-K (sprot)


SOX5_HUMAN Transcription factor SOX-5 (sprot)


PPA6_HUMAN Lysophosphatidic acid phosphatase type 6 (sprot)


anomalous left coronary artery from the pulmonary artery


ODC_HUMAN Mitochondrial 2-oxodicarboxylate carrier (sprot)


PEX5_HUMAN Peroxisomal targeting signal 1 receptor (sprot)


SAE1_HUMAN SUMO-activating enzyme subunit 1 (sprot)


CKLF5_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 5 (sprot)


VSTM1_HUMAN V-set and transmembrane domain-containing protein 1 (sprot)


combined oxidative phosphorylation deficiency


TEBP_HUMAN Prostaglandin E synthase 3 (sprot)


FUND2_HUMAN FUN14 domain-containing protein 2 (sprot)


G3ST3_HUMAN Galactose-3-O-sulfotransferase 3 (sprot)


UBP13_HUMAN Ubiquitin carboxyl-terminal hydrolase 13 (sprot)


FUT11_HUMAN Alpha-(1,3)-fucosyltransferase 11 (sprot)


MP2K4_HUMAN Dual specificity mitogen-activated protein kinase kinase 4 (sprot)


CARM1_HUMAN Histone-arginine methyltransferase CARM1 (sprot)


GNB5_HUMAN Guanine nucleotide-binding protein subunit beta-5 (sprot)


CEP89_HUMAN Centrosomal protein of 89 kDa (sprot)


CRFR2_HUMAN Corticotropin-releasing factor receptor 2 (sprot)


undifferentiated embryonal sarcoma of the liver


heritable pulmonary arterial hypertension


ENTP3_HUMAN Ectonucleoside triphosphate diphosphohydrolase 3 (sprot)


GMIP_HUMAN GEM-interacting protein (sprot)


S47A1_HUMAN Multidrug and toxin extrusion protein 1 (sprot)


thymic large cell neuroendocrine carcinoma


KPCE_HUMAN Protein kinase C epsilon type (sprot)


HNF1A_HUMAN Hepatocyte nuclear factor 1-alpha (sprot)


TUT7_HUMAN Terminal uridylyltransferase 7 (sprot)


autosomal recessive nonsyndromic hearing loss 35


CO9A2_HUMAN Collagen alpha-2(IX) chain (sprot)


ZNF48_HUMAN Zinc finger protein 48 (sprot)


thyroid gland spindle cell tumor with thymus-like differentiation


KCAB3_HUMAN Voltage-gated potassium channel subunit beta-3 (sprot)


LAMA5_HUMAN Laminin subunit alpha-5 (sprot)


growth hormone-producing pituitary gland neoplasm


DDX20_HUMAN Probable ATP-dependent RNA helicase DDX20 (sprot)


ZBT34_HUMAN Zinc finger and BTB domain-containing protein 34 (sprot)


EPHA3_HUMAN Ephrin type-A receptor 3 (sprot)


I18RA_HUMAN Interleukin-18 receptor accessory protein (sprot)


trigonocephaly-short stature-developmental delay syndrome


BARD1_HUMAN BRCA1-associated RING domain protein 1 (sprot)


S45A2_HUMAN Membrane-associated transporter protein (sprot)


TRPM8_HUMAN Transient receptor potential cation channel subfamily M member 8 (sprot)


PELO_HUMAN Protein pelota homolog (sprot)


SPTB1_HUMAN Spectrin beta chain, erythrocytic (sprot)


PROP1_HUMAN Homeobox protein prophet of Pit-1 (sprot)


TIMP3_HUMAN Metalloproteinase inhibitor 3 (sprot)


LNP1_HUMAN Leukemia NUP98 fusion partner 1 (sprot)


BNC1_HUMAN Zinc finger protein basonuclin-1 (sprot)


ossification of the posterior longitudinal ligament of the spine


LRSM1_HUMAN E3 ubiquitin-protein ligase LRSAM1 (sprot)


CEL2B_HUMAN Chymotrypsin-like elastase family member 2B (sprot)


TF7L1_HUMAN Transcription factor 7-like 1 (sprot)


HDBP1_HUMAN Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (sprot)


CAVN3_HUMAN Caveolae-associated protein 3 (sprot)


GNPI1_HUMAN Glucosamine-6-phosphate isomerase 1 (sprot)


GLI1_HUMAN Zinc finger protein GLI1 (sprot)


NSE3_HUMAN Non-structural maintenance of chromosomes element 3 homolog (sprot)


ZBT12_HUMAN Zinc finger and BTB domain-containing protein 12 (sprot)


HPS4_HUMAN BLOC-3 complex member HPS4 (sprot)


ATP7A_HUMAN Copper-transporting ATPase 1 (sprot)


PLP2_HUMAN Proteolipid protein 2 (sprot)


TSCOT_HUMAN Thymic stromal cotransporter homolog (sprot)


5HT1F_HUMAN 5-hydroxytryptamine receptor 1F (sprot)


TLE3_HUMAN Transducin-like enhancer protein 3 (sprot)


RL27A_HUMAN 60S ribosomal protein L27a (sprot)


GPC5D_HUMAN G-protein coupled receptor family C group 5 member D (sprot)


LEF1_HUMAN Lymphoid enhancer-binding factor 1 (sprot)


NFIL3_HUMAN Nuclear factor interleukin-3-regulated protein (sprot)


PKHS1_HUMAN Pleckstrin homology domain-containing family S member 1 (sprot)


RS24_HUMAN 40S ribosomal protein S24 (sprot)


FADS2_HUMAN Acyl-CoA 6-desaturase (sprot)


HS3S2_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 2 (sprot)


ZN469_HUMAN Zinc finger protein 469 (sprot)


EP15R_HUMAN Epidermal growth factor receptor substrate 15-like 1 (sprot)


DUS5_HUMAN Dual specificity protein phosphatase 5 (sprot)


SLC35A2-congenital disorder of glycosylation


TIM23_HUMAN Mitochondrial import inner membrane translocase subunit Tim23 (sprot)


ECI2_HUMAN Enoyl-CoA delta isomerase 2 (sprot)


respiratory distress syndrome in premature infants


GPM6B_HUMAN Neuronal membrane glycoprotein M6-b (sprot)


GIMA7_HUMAN GTPase IMAP family member 7 (sprot)


AP1M2_HUMAN AP-1 complex subunit mu-2 (sprot)


PPM1M_HUMAN Protein phosphatase 1M (sprot)


ZFX_HUMAN Zinc finger X-chromosomal protein (sprot)


GBA1_HUMAN Lysosomal acid glucosylceramidase (sprot)


CXB4_HUMAN Gap junction beta-4 protein (sprot)


CSF1R_HUMAN Macrophage colony-stimulating factor 1 receptor (sprot)


BODG_HUMAN Gamma-butyrobetaine dioxygenase (sprot)


OSB11_HUMAN Oxysterol-binding protein-related protein 11 (sprot)


catecholaminergic polymorphic ventricular tachycardia 1


ATS3_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 3 (sprot)


RXRB_HUMAN Retinoic acid receptor RXR-beta (sprot)


POMT1_HUMAN Protein O-mannosyl-transferase 1 (sprot)


CCHCR_HUMAN Coiled-coil alpha-helical rod protein 1 (sprot)


ZN467_HUMAN Zinc finger protein 467 (sprot)


ZFY21_HUMAN Zinc finger FYVE domain-containing protein 21 (sprot)


FCSD2_HUMAN F-BAR and double SH3 domains protein 2 (sprot)


IRF5_HUMAN Interferon regulatory factor 5 (sprot)


CLC14_HUMAN C-type lectin domain family 14 member A (sprot)


ALMS1_HUMAN Centrosome-associated protein ALMS1 (sprot)


AP4E1_HUMAN AP-4 complex subunit epsilon-1 (sprot)


MLXIP_HUMAN MLX-interacting protein (sprot)


VATG1_HUMAN V-type proton ATPase subunit G 1 (sprot)


NFIX_HUMAN Nuclear factor 1 X-type (sprot)


ATPD_HUMAN ATP synthase subunit delta, mitochondrial (sprot)


ABRX1_HUMAN BRCA1-A complex subunit Abraxas 1 (sprot)


PAN3_HUMAN PAN2-PAN3 deadenylation complex subunit PAN3 (sprot)


LBX1_HUMAN Transcription factor LBX1 (sprot)


DAAF3_HUMAN Dynein axonemal assembly factor 3 (sprot)


KI2S4_HUMAN Killer cell immunoglobulin-like receptor 2DS4 (sprot)


SMC6_HUMAN Structural maintenance of chromosomes protein 6 (sprot)


ICE1_HUMAN Little elongation complex subunit 1 (sprot)


THYN1_HUMAN Thymocyte nuclear protein 1 (sprot)


SYRM_HUMAN Probable arginine--tRNA ligase, mitochondrial (sprot)


RS3_HUMAN 40S ribosomal protein S3 (sprot)


TIGIT_HUMAN T-cell immunoreceptor with Ig and ITIM domains (sprot)


UBC9_HUMAN SUMO-conjugating enzyme UBC9 (sprot)


ZFP37_HUMAN Zinc finger protein 37 homolog (sprot)


KTNB1_HUMAN Katanin p80 WD40 repeat-containing subunit B1 (sprot)


KCNE1_HUMAN Potassium voltage-gated channel subfamily E member 1 (sprot)


PKNX1_HUMAN Homeobox protein PKNOX1 (sprot)


PAQR8_HUMAN Membrane progestin receptor beta (sprot)


DNJC2_HUMAN DnaJ homolog subfamily C member 2 (sprot)


CSK21_HUMAN Casein kinase II subunit alpha (sprot)


ERD22_HUMAN ER lumen protein-retaining receptor 2 (sprot)


ELMO1_HUMAN Engulfment and cell motility protein 1 (sprot)


LASP1_HUMAN LIM and SH3 domain protein 1 (sprot)


PACA_HUMAN Pituitary adenylate cyclase-activating polypeptide (sprot)


CITE4_HUMAN Cbp/p300-interacting transactivator 4 (sprot)


GPR25_HUMAN Probable G-protein coupled receptor 25 (sprot)


PMGT2_HUMAN Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 (sprot)


CNOT8_HUMAN CCR4-NOT transcription complex subunit 8 (sprot)


TBA3C_HUMAN Tubulin alpha-3C chain (sprot)


AATM_HUMAN Aspartate aminotransferase, mitochondrial (sprot)


P3C2B_HUMAN Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta (sprot)


SMG9_HUMAN Nonsense-mediated mRNA decay factor SMG9 (sprot)


SNRK_HUMAN SNF-related serine/threonine-protein kinase (sprot)


CDK18_HUMAN Cyclin-dependent kinase 18 (sprot)


H2A1H_HUMAN Histone H2A type 1-H (sprot)


NAC1_HUMAN Sodium/calcium exchanger 1 (sprot)


major salivary gland adenoid cystic carcinoma


UBE2C_HUMAN Ubiquitin-conjugating enzyme E2 C (sprot)


ELL2_HUMAN RNA polymerase II elongation factor ELL2 (sprot)


CHAC1_HUMAN Glutathione-specific gamma-glutamylcyclotransferase 1 (sprot)


TMM74_HUMAN Transmembrane protein 74 (sprot)


ZN235_HUMAN Zinc finger protein 235 (sprot)


CBX7_HUMAN Chromobox protein homolog 7 (sprot)


TRM7_HUMAN Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase (sprot)


CAN2_HUMAN Calpain-2 catalytic subunit (sprot)


ISK4_HUMAN Serine protease inhibitor Kazal-type 4 (sprot)


PRS35_HUMAN Inactive serine protease 35 (sprot)


D19L1_HUMAN Probable C-mannosyltransferase DPY19L1 (sprot)


TRIM8_HUMAN E3 ubiquitin-protein ligase TRIM8 (sprot)


CAAP1_HUMAN Caspase activity and apoptosis inhibitor 1 (sprot)


CPSF3_HUMAN Cleavage and polyadenylation specificity factor subunit 3 (sprot)


GRIP1_HUMAN Glutamate receptor-interacting protein 1 (sprot)


WDR18_HUMAN WD repeat-containing protein 18 (sprot)


MAGI3_HUMAN Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 (sprot)


WAPL_HUMAN Wings apart-like protein homolog (sprot)


CIRBP_HUMAN Cold-inducible RNA-binding protein (sprot)


RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 (sprot)


NAA25_HUMAN N-alpha-acetyltransferase 25, NatB auxiliary subunit (sprot)


developmental and epileptic encephalopathy


therapy related acute myeloid leukemia and myelodysplastic syndrome


SHD_HUMAN SH2 domain-containing adapter protein D (sprot)


CDR2_HUMAN Cerebellar degeneration-related protein 2 (sprot)


ODB2_HUMAN Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial (sprot)


APEX2_HUMAN DNA-(apurinic or apyrimidinic site) endonuclease 2 (sprot)


PSMD4_HUMAN 26S proteasome non-ATPase regulatory subunit 4 (sprot)


ATS1_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 1 (sprot)


GPD1L_HUMAN Glycerol-3-phosphate dehydrogenase 1-like protein (sprot)


CCD57_HUMAN Coiled-coil domain-containing protein 57 (sprot)


CDK20_HUMAN Cyclin-dependent kinase 20 (sprot)


MOD5_HUMAN tRNA dimethylallyltransferase (sprot)


ZN598_HUMAN E3 ubiquitin-protein ligase ZNF598 (sprot)


EIF3I_HUMAN Eukaryotic translation initiation factor 3 subunit I (sprot)


CNGB3_HUMAN Cyclic nucleotide-gated cation channel beta-3 (sprot)


nodular sclerosis classical Hodgkin lymphoma


BAF_HUMAN Barrier-to-autointegration factor (sprot)


PPM1G_HUMAN Protein phosphatase 1G (sprot)


TIGD7_HUMAN Tigger transposable element-derived protein 7 (sprot)


MB12B_HUMAN Multivesicular body subunit 12B (sprot)


KIF2C_HUMAN Kinesin-like protein KIF2C (sprot)


CF251_HUMAN Cilia- and flagella-associated protein 251 (sprot)


HS3S1_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 1 (sprot)


MPC1_HUMAN Mitochondrial pyruvate carrier 1 (sprot)


HM20B_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related (sprot)


UD16_HUMAN UDP-glucuronosyltransferase 1-6 (sprot)


KCND2_HUMAN Potassium voltage-gated channel subfamily D member 2 (sprot)


CNGA1_HUMAN cGMP-gated cation channel alpha-1 (sprot)


C1QT1_HUMAN Complement C1q tumor necrosis factor-related protein 1 (sprot)


KRA47_HUMAN Keratin-associated protein 4-7 (sprot)


RAB3D_HUMAN Ras-related protein Rab-3D (sprot)


PTHD1_HUMAN Patched domain-containing protein 1 (sprot)


HMGCL_HUMAN Hydroxymethylglutaryl-CoA lyase, mitochondrial (sprot)


UN13B_HUMAN Protein unc-13 homolog B (sprot)


NDUA5_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 (sprot)


LY96_HUMAN Lymphocyte antigen 96 (sprot)


PIGN_HUMAN GPI ethanolamine phosphate transferase 1 (sprot)


EGFL6_HUMAN Epidermal growth factor-like protein 6 (sprot)


MYRF_HUMAN Myelin regulatory factor (sprot)


MOT14_HUMAN Monocarboxylate transporter 14 (sprot)


MBD3_HUMAN Methyl-CpG-binding domain protein 3 (sprot)


CTU2_HUMAN Cytoplasmic tRNA 2-thiolation protein 2 (sprot)


SPAG5_HUMAN Sperm-associated antigen 5 (sprot)


RGCC_HUMAN Regulator of cell cycle RGCC (sprot)


CAND1_HUMAN Cullin-associated NEDD8-dissociated protein 1 (sprot)


PP6R2_HUMAN Serine/threonine-protein phosphatase 6 regulatory subunit 2 (sprot)


LS14A_HUMAN Protein LSM14 homolog A (sprot)


PTPRM_HUMAN Receptor-type tyrosine-protein phosphatase mu (sprot)


COX15_HUMAN Cytochrome c oxidase assembly protein COX15 homolog (sprot)


STEA3_HUMAN Metalloreductase STEAP3 (sprot)


ALX3_HUMAN Homeobox protein aristaless-like 3 (sprot)


ENPP5_HUMAN Ectonucleotide pyrophosphatase/phosphodiesterase family member 5 (sprot)


MP3B2_HUMAN Microtubule-associated proteins 1A/1B light chain 3 beta 2 (sprot)


BAKOR_HUMAN Beclin 1-associated autophagy-related key regulator (sprot)


TNR8_HUMAN Tumor necrosis factor receptor superfamily member 8 (sprot)


METK2_HUMAN S-adenosylmethionine synthase isoform type-2 (sprot)


REEP5_HUMAN Receptor expression-enhancing protein 5 (sprot)


LIPT_HUMAN Lipoyltransferase 1, mitochondrial (sprot)


SCIMP_HUMAN SLP adapter and CSK-interacting membrane protein (sprot)


ZN639_HUMAN Zinc finger protein 639 (sprot)


ZCHC8_HUMAN Zinc finger CCHC domain-containing protein 8 (sprot)


GPX3_HUMAN Glutathione peroxidase 3 (sprot)


NDST2_HUMAN Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 (sprot)


GPR55_HUMAN G-protein coupled receptor 55 (sprot)


ARMX5_HUMAN Armadillo repeat-containing X-linked protein 5 (sprot)


ANR16_HUMAN Ankyrin repeat domain-containing protein 16 (sprot)


KCNRG_HUMAN Potassium channel regulatory protein (sprot)


CSTF2_HUMAN Cleavage stimulation factor subunit 2 (sprot)


INT13_HUMAN Integrator complex subunit 13 (sprot)


PRD16_HUMAN Histone-lysine N-methyltransferase PRDM16 (sprot)


CBR4_HUMAN 3-oxoacyl-[acyl-carrier-protein] reductase (sprot)


MESP1_HUMAN Mesoderm posterior protein 1 (sprot)


SIA7B_HUMAN Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (sprot)


PDE7B_HUMAN cAMP-specific 3',5'-cyclic phosphodiesterase 7B (sprot)


TMCO3_HUMAN Transmembrane and coiled-coil domain-containing protein 3 (sprot)


PSG4_HUMAN Pregnancy-specific beta-1-glycoprotein 4 (sprot)


CDY2_HUMAN Testis-specific chromodomain protein Y 2 (sprot)


MIC25_HUMAN MICOS complex subunit MIC25 (sprot)


RBBP5_HUMAN Retinoblastoma-binding protein 5 (sprot)


sinus histiocytosis with massive lymphadenopathy


RUSC1_HUMAN AP-4 complex accessory subunit RUSC1 (sprot)


MAVS_HUMAN Mitochondrial antiviral-signaling protein (sprot)


VDAC3_HUMAN Voltage-dependent anion-selective channel protein 3 (sprot)


SOX6_HUMAN Transcription factor SOX-6 (sprot)


TSPY1_HUMAN Testis-specific Y-encoded protein 1 (sprot)


Thieno(2,3-d)pyrimidine, 4-(2-fluorophenyl)-6-methyl-2-(1-piperazinyl)-, monohydrochloride, monohydrate


ACSF3_HUMAN Malonate--CoA ligase ACSF3, mitochondrial (sprot)


ANKR9_HUMAN Ankyrin repeat domain-containing protein 9 (sprot)


CEA19_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 19 (sprot)


OTULL_HUMAN Inactive ubiquitin thioesterase OTULINL (sprot)


STYL1_HUMAN Serine/threonine/tyrosine-interacting-like protein 1 (sprot)


5NT1B_HUMAN Cytosolic 5'-nucleotidase 1B (sprot)


TXND9_HUMAN Thioredoxin domain-containing protein 9 (sprot)


UVSSA_HUMAN UV-stimulated scaffold protein A (sprot)


INT11_HUMAN Integrator complex subunit 11 (sprot)


GIMA1_HUMAN GTPase IMAP family member 1 (sprot)


RERG_HUMAN Ras-related and estrogen-regulated growth inhibitor (sprot)


INT9_HUMAN Integrator complex subunit 9 (sprot)


PAWR_HUMAN PRKC apoptosis WT1 regulator protein (sprot)


SIX3_HUMAN Homeobox protein SIX3 (sprot)


APH1B_HUMAN Gamma-secretase subunit APH-1B (sprot)


ZNF14_HUMAN Zinc finger protein 14 (sprot)


STOX2_HUMAN Storkhead-box protein 2 (sprot)


CE162_HUMAN Centrosomal protein of 162 kDa (sprot)


TRAF4_HUMAN TNF receptor-associated factor 4 (sprot)


PSF2_HUMAN DNA replication complex GINS protein PSF2 (sprot)


AMER2_HUMAN APC membrane recruitment protein 2 (sprot)


GTR12_HUMAN Solute carrier family 2, facilitated glucose transporter member 12 (sprot)


KIFC2_HUMAN Kinesin-like protein KIFC2 (sprot)


PECA1_HUMAN Platelet endothelial cell adhesion molecule (sprot)


LAMA1_HUMAN Laminin subunit alpha-1 (sprot)


DMTF1_HUMAN Cyclin-D-binding Myb-like transcription factor 1 (sprot)


TBC24_HUMAN TBC1 domain family member 24 (sprot)


HMGA1_HUMAN High mobility group protein HMG-I/HMG-Y (sprot)


DYH6_HUMAN Dynein axonemal heavy chain 6 (sprot)


functional pancreatic neuroendocrine tumor


NF2L1_HUMAN Endoplasmic reticulum membrane sensor NFE2L1 (sprot)


K2C72_HUMAN Keratin, type II cytoskeletal 72 (sprot)


CBR1_HUMAN Carbonyl reductase [NADPH] 1 (sprot)


benign female reproductive system neoplasm


RNF14_HUMAN E3 ubiquitin-protein ligase RNF14 (sprot)


JMJD7_HUMAN Bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7 (sprot)


TRI26_HUMAN Tripartite motif-containing protein 26 (sprot)


NGLY1_HUMAN Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (sprot)


O51E2_HUMAN Olfactory receptor 51E2 (sprot)


IF4H_HUMAN Eukaryotic translation initiation factor 4H (sprot)


SIX6_HUMAN Homeobox protein SIX6 (sprot)


SUOX_HUMAN Sulfite oxidase, mitochondrial (sprot)


MRGRD_HUMAN Mas-related G-protein coupled receptor member D (sprot)


ZN671_HUMAN Zinc finger protein 671 (sprot)


METK1_HUMAN S-adenosylmethionine synthase isoform type-1 (sprot)


KDM4C_HUMAN Lysine-specific demethylase 4C (sprot)


autosomal recessive limb-girdle muscular dystrophy type 2P


LST1_HUMAN Leukocyte-specific transcript 1 protein (sprot)


FCG3A_HUMAN Low affinity immunoglobulin gamma Fc region receptor III-A (sprot)


KATL1_HUMAN Katanin p60 ATPase-containing subunit A-like 1 (sprot)


ZBT18_HUMAN Zinc finger and BTB domain-containing protein 18 (sprot)


GTPB4_HUMAN GTP-binding protein 4 (sprot)


TYW4_HUMAN tRNA wybutosine-synthesizing protein 4 (sprot)


AHRR_HUMAN Aryl hydrocarbon receptor repressor (sprot)


ERCC2_HUMAN General transcription and DNA repair factor IIH helicase subunit XPD (sprot)


MID51_HUMAN Mitochondrial dynamics protein MID51 (sprot)


S2540_HUMAN Probable mitochondrial glutathione transporter SLC25A40 (sprot)


OST4_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4 (sprot)


UBFD1_HUMAN Ubiquitin domain-containing protein UBFD1 (sprot)


acute myeloid leukemia with minimal differentiation


RHG01_HUMAN Rho GTPase-activating protein 1 (sprot)


LYAG_HUMAN Lysosomal alpha-glucosidase (sprot)


TAF4B_HUMAN Transcription initiation factor TFIID subunit 4B (sprot)


3,5-Dimethyl-1-(3-nitrophenyl)-1H-pyrazole-4-carboxylic acid ethyl ester


TOPB1_HUMAN DNA topoisomerase 2-binding protein 1 (sprot)


PHLB3_HUMAN Pleckstrin homology-like domain family B member 3 (sprot)


blepharophimosis, ptosis, and epicanthus inversus syndrome


MED31_HUMAN Mediator of RNA polymerase II transcription subunit 31 (sprot)


DEAF1_HUMAN Deformed epidermal autoregulatory factor 1 homolog (sprot)


CC28B_HUMAN Coiled-coil domain-containing protein 28B (sprot)


PRUN2_HUMAN Protein prune homolog 2 (sprot)


CTC1_HUMAN CST complex subunit CTC1 (sprot)


BACH2_HUMAN Transcription regulator protein BACH2 (sprot)


NAC3_HUMAN Sodium/calcium exchanger 3 (sprot)


AGRA3_HUMAN Adhesion G protein-coupled receptor A3 (sprot)


MYL6_HUMAN Myosin light polypeptide 6 (sprot)


SAA2_HUMAN Serum amyloid A-2 protein (sprot)


PRDX5_HUMAN Peroxiredoxin-5, mitochondrial (sprot)


PKNX2_HUMAN Homeobox protein PKNOX2 (sprot)


TM107_HUMAN Transmembrane protein 107 (sprot)


TADA3_HUMAN Transcriptional adapter 3 (sprot)


PPIE_HUMAN Peptidyl-prolyl cis-trans isomerase E (sprot)


RTCA_HUMAN RNA 3'-terminal phosphate cyclase (sprot)


RAGP1_HUMAN Ran GTPase-activating protein 1 (sprot)


WDHD1_HUMAN WD repeat and HMG-box DNA-binding protein 1 (sprot)


S35A1_HUMAN CMP-sialic acid transporter (sprot)


OGG1_HUMAN N-glycosylase/DNA lyase (sprot)


chronic enteropathy associated with SLCO2A1 gene


CBY1_HUMAN Protein chibby homolog 1 (sprot)


ROA2_HUMAN Heterogeneous nuclear ribonucleoproteins A2/B1 (sprot)


SMA5O_HUMAN SMAD5 antisense gene protein 1 (sprot)


Z354A_HUMAN Zinc finger protein 354A (sprot)


DYHC2_HUMAN Cytoplasmic dynein 2 heavy chain 1 (sprot)


DGKA_HUMAN Diacylglycerol kinase alpha (sprot)


SIL1_HUMAN Nucleotide exchange factor SIL1 (sprot)


SATB1_HUMAN DNA-binding protein SATB1 (sprot)


RS5_HUMAN 40S ribosomal protein S5 (sprot)


INGR1_HUMAN Interferon gamma receptor 1 (sprot)


congenital nonspherocytic hemolytic anemia


KRT37_HUMAN Keratin, type I cuticular Ha7 (sprot)


KCRB_HUMAN Creatine kinase B-type (sprot)


BAZ2A_HUMAN Bromodomain adjacent to zinc finger domain protein 2A (sprot)


TNR1B_HUMAN Tumor necrosis factor receptor superfamily member 1B (sprot)


TLE2_HUMAN Transducin-like enhancer protein 2 (sprot)


TMM64_HUMAN Transmembrane protein 64 (sprot)


SODIUM PHOSPHATE, TRIBASIC, DODECAHYDRATE


DHB4_HUMAN Peroxisomal multifunctional enzyme type 2 (sprot)


ROR1_HUMAN Inactive tyrosine-protein kinase transmembrane receptor ROR1 (sprot)


F16P2_HUMAN Fructose-1,6-bisphosphatase isozyme 2 (sprot)


RAB6A_HUMAN Ras-related protein Rab-6A (sprot)


NECA2_HUMAN N-terminal EF-hand calcium-binding protein 2 (sprot)


TPM2_HUMAN Tropomyosin beta chain (sprot)


DIK2A_HUMAN Divergent protein kinase domain 2A (sprot)


ICE2_HUMAN Little elongation complex subunit 2 (sprot)


ERR1_HUMAN Steroid hormone receptor ERR1 (sprot)


KAD5_HUMAN Adenylate kinase isoenzyme 5 (sprot)


developmental and epileptic encephalopathy 94


HDAC6_HUMAN Histone deacetylase 6 (sprot)


CAGE1_HUMAN Cancer-associated gene 1 protein (sprot)


MAOX_HUMAN NADP-dependent malic enzyme (sprot)


RAB32_HUMAN Ras-related protein Rab-32 (sprot)


NMDE1_HUMAN Glutamate receptor ionotropic, NMDA 2A (sprot)


RBP17_HUMAN Ran-binding protein 17 (sprot)


GABR2_HUMAN Gamma-aminobutyric acid type B receptor subunit 2 (sprot)


MYEF2_HUMAN Myelin expression factor 2 (sprot)


DALD3_HUMAN DALR anticodon-binding domain-containing protein 3 (sprot)


ARL4D_HUMAN ADP-ribosylation factor-like protein 4D (sprot)


FA12_HUMAN Coagulation factor XII (sprot)


acute myeloid leukemia with multilineage dysplasia


SAM12_HUMAN Sterile alpha motif domain-containing protein 12 (sprot)


RM52_HUMAN 39S ribosomal protein L52, mitochondrial (sprot)


IMA4_HUMAN Importin subunit alpha-4 (sprot)


NR2E3_HUMAN Photoreceptor-specific nuclear receptor (sprot)


LAMB4_HUMAN Laminin subunit beta-4 (sprot)


progressive familial intrahepatic cholestasis type 1


TAF9_HUMAN Transcription initiation factor TFIID subunit 9 (sprot)


ARC1B_HUMAN Actin-related protein 2/3 complex subunit 1B (sprot)


5HT6R_HUMAN 5-hydroxytryptamine receptor 6 (sprot)


Z280A_HUMAN Zinc finger protein 280A (sprot)


LCN12_HUMAN Epididymal-specific lipocalin-12 (sprot)


CLM7_HUMAN CMRF35-like molecule 7 (sprot)


DIRA3_HUMAN GTP-binding protein Di-Ras3 (sprot)


DCA13_HUMAN DDB1- and CUL4-associated factor 13 (sprot)


MORC1_HUMAN MORC family CW-type zinc finger protein 1 (sprot)


K1C20_HUMAN Keratin, type I cytoskeletal 20 (sprot)


LYZL6_HUMAN Lysozyme-like protein 6 (sprot)


neonatal diabetes mellitus with congenital hypothyroidism


CREB1_HUMAN Cyclic AMP-responsive element-binding protein 1 (sprot)


CO5A1_HUMAN Collagen alpha-1(V) chain (sprot)


STK19_HUMAN Serine/threonine-protein kinase 19 (sprot)


CHP3_HUMAN Calcineurin B homologous protein 3 (sprot)


AB17B_HUMAN Alpha/beta hydrolase domain-containing protein 17B (sprot)


NR0B1_HUMAN Nuclear receptor subfamily 0 group B member 1 (sprot)


TP4A1_HUMAN Protein tyrosine phosphatase type IVA 1 (sprot)


TMC1_HUMAN Transmembrane channel-like protein 1 (sprot)


VHLL_HUMAN von Hippel-Lindau-like protein (sprot)


SCN1B_HUMAN Sodium channel subunit beta-1 (sprot)


ZFYV9_HUMAN Zinc finger FYVE domain-containing protein 9 (sprot)


LRAD4_HUMAN Low-density lipoprotein receptor class A domain-containing protein 4 (sprot)


postsynaptic congenital myasthenic syndrome


ITPK1_HUMAN Inositol-tetrakisphosphate 1-kinase (sprot)


NAB2_HUMAN NGFI-A-binding protein 2 (sprot)


BCS1_HUMAN Mitochondrial chaperone BCS1 (sprot)


CAHM6_HUMAN Calcium homeostasis modulator protein 6 (sprot)


CMC4_HUMAN Cx9C motif-containing protein 4 (sprot)


JAML_HUMAN Junctional adhesion molecule-like (sprot)


S35E3_HUMAN Solute carrier family 35 member E3 (sprot)


5HT1A_HUMAN 5-hydroxytryptamine receptor 1A (sprot)


CKS1_HUMAN Cyclin-dependent kinases regulatory subunit 1 (sprot)


CBPC3_HUMAN Cytosolic carboxypeptidase 3 (sprot)


SUCB1_HUMAN Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (sprot)


PLOD2_HUMAN Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (sprot)


ENTR1_HUMAN Endosome-associated-trafficking regulator 1 (sprot)


MPIP2_HUMAN M-phase inducer phosphatase 2 (sprot)


TPA_HUMAN Tissue-type plasminogen activator (sprot)


acquired thrombotic thrombocytopenic purpura


PNMA5_HUMAN Paraneoplastic antigen-like protein 5 (sprot)


ARI4B_HUMAN AT-rich interactive domain-containing protein 4B (sprot)


JDP2_HUMAN Jun dimerization protein 2 (sprot)


LIGO3_HUMAN Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 (sprot)


COMA1_HUMAN Collagen alpha-1(XXII) chain (sprot)


TMC8_HUMAN Transmembrane channel-like protein 8 (sprot)


NCOA4_HUMAN Nuclear receptor coactivator 4 (sprot)


PKH4B_HUMAN Pleckstrin homology domain-containing family G member 4B (sprot)


CSF1_HUMAN Macrophage colony-stimulating factor 1 (sprot)


KLH40_HUMAN Kelch-like protein 40 (sprot)


hypomagnesemia, seizures, and intellectual disability


STP1_HUMAN Spermatid nuclear transition protein 1 (sprot)


RN122_HUMAN RING finger protein 122 (sprot)


HBE_HUMAN Hemoglobin subunit epsilon (sprot)


CEP83_HUMAN Centrosomal protein of 83 kDa (sprot)


PK3CA_HUMAN Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform (sprot)


SC5A1_HUMAN Sodium/glucose cotransporter 1 (sprot)


CDK5_HUMAN Cyclin-dependent kinase 5 (sprot)


GAB2_HUMAN GRB2-associated-binding protein 2 (sprot)


congenital lipoid adrenal hyperplasia due to STAR deficency


patterned dystrophy of the retinal pigment epithelium


CE85L_HUMAN Centrosomal protein of 85 kDa-like (sprot)


PGBD5_HUMAN PiggyBac transposable element-derived protein 5 (sprot)


PIGP_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit P (sprot)


PAX3_HUMAN Paired box protein Pax-3 (sprot)


EF1D_HUMAN Elongation factor 1-delta (sprot)


MAFB_HUMAN Transcription factor MafB (sprot)


DCHS_HUMAN Histidine decarboxylase (sprot)


RETST_HUMAN All-trans-retinol 13,14-reductase (sprot)


ERO1B_HUMAN ERO1-like protein beta (sprot)


AP2M1_HUMAN AP-2 complex subunit mu (sprot)


EFC4B_HUMAN EF-hand calcium-binding domain-containing protein 4B (sprot)


ST1A4_HUMAN Sulfotransferase 1A4 (sprot)


CAMP2_HUMAN Calmodulin-regulated spectrin-associated protein 2 (sprot)


MDR3_HUMAN Phosphatidylcholine translocator ABCB4 (sprot)


IRS4_HUMAN Insulin receptor substrate 4 (sprot)


UBP15_HUMAN Ubiquitin carboxyl-terminal hydrolase 15 (sprot)


CHCH7_HUMAN Coiled-coil-helix-coiled-coil-helix domain-containing protein 7 (sprot)


PHLA2_HUMAN Pleckstrin homology-like domain family A member 2 (sprot)


TPTE_HUMAN Putative tyrosine-protein phosphatase TPTE (sprot)


TRI58_HUMAN E3 ubiquitin-protein ligase TRIM58 (sprot)


rheumatoid factor-positive polyarticular juvenile idiopathic arthritis


RFX5_HUMAN DNA-binding protein RFX5 (sprot)


ESCO1_HUMAN N-acetyltransferase ESCO1 (sprot)


ACE2_HUMAN Angiotensin-converting enzyme 2 (sprot)


SYGP1_HUMAN Ras/Rap GTPase-activating protein SynGAP (sprot)


LYPL1_HUMAN Lysophospholipase-like protein 1 (sprot)


CTR1_HUMAN High affinity cationic amino acid transporter 1 (sprot)


CAZA2_HUMAN F-actin-capping protein subunit alpha-2 (sprot)


PORCN_HUMAN Protein-serine O-palmitoleoyltransferase porcupine (sprot)


SURF1_HUMAN Surfeit locus protein 1 (sprot)


HERC5_HUMAN E3 ISG15--protein ligase HERC5 (sprot)


MK14_HUMAN Mitogen-activated protein kinase 14 (sprot)


drug rash with eosinophilia and systemic symptoms


TBXT_HUMAN T-box transcription factor T (sprot)


FPPS_HUMAN Farnesyl pyrophosphate synthase (sprot)


VATB1_HUMAN V-type proton ATPase subunit B, kidney isoform (sprot)


S46A3_HUMAN Solute carrier family 46 member 3 (sprot)


EXOS9_HUMAN Exosome complex component RRP45 (sprot)


KKLC1_HUMAN Kita-kyushu lung cancer antigen 1 (sprot)


UN45A_HUMAN Protein unc-45 homolog A (sprot)


KLF10_HUMAN Krueppel-like factor 10 (sprot)


HRH1_HUMAN Histamine H1 receptor (sprot)


EXOC2_HUMAN Exocyst complex component 2 (sprot)


SYC1L_HUMAN Synaptonemal complex central element protein 1-like (sprot)


CSF2_HUMAN Granulocyte-macrophage colony-stimulating factor (sprot)


TSEAR_HUMAN Thrombospondin-type laminin G domain and EAR repeat-containing protein (sprot)


ESAM_HUMAN Endothelial cell-selective adhesion molecule (sprot)


LNX2_HUMAN Ligand of Numb protein X 2 (sprot)


KC1E_HUMAN Casein kinase I isoform epsilon (sprot)


TRPC4_HUMAN Short transient receptor potential channel 4 (sprot)


RHG19_HUMAN Rho GTPase-activating protein 19 (sprot)


autosomal recessive congenital cerebellar ataxia


ZFR2_HUMAN Zinc finger RNA-binding protein 2 (sprot)


EHBP1_HUMAN EH domain-binding protein 1 (sprot)


S38A3_HUMAN Sodium-coupled neutral amino acid transporter 3 (sprot)


PHF13_HUMAN PHD finger protein 13 (sprot)


SPT16_HUMAN Spermatogenesis-associated protein 16 (sprot)


ISOC1_HUMAN Isochorismatase domain-containing protein 1 (sprot)


adult central nervous system germ cell tumor


KCND1_HUMAN Potassium voltage-gated channel subfamily D member 1 (sprot)


B9D1_HUMAN B9 domain-containing protein 1 (sprot)


EPHB6_HUMAN Ephrin type-B receptor 6 (sprot)


SPT20_HUMAN Spermatogenesis-associated protein 20 (sprot)


RABE1_HUMAN Rab GTPase-binding effector protein 1 (sprot)


CEL2A_HUMAN Chymotrypsin-like elastase family member 2A (sprot)


VCIP1_HUMAN Deubiquitinating protein VCPIP1 (sprot)


low phospholipid associated cholelithiasis


CREL2_HUMAN Protein disulfide isomerase CRELD2 (sprot)


PSA4_HUMAN Proteasome subunit alpha type-4 (sprot)


GPV_HUMAN Platelet glycoprotein V (sprot)


AP5Z1_HUMAN AP-5 complex subunit zeta-1 (sprot)


MOG1_HUMAN Ran guanine nucleotide release factor (sprot)


DYH1_HUMAN Dynein axonemal heavy chain 1 (sprot)


ATTY_HUMAN Tyrosine aminotransferase (sprot)


SP4_HUMAN Transcription factor Sp4 (sprot)


VAMP4_HUMAN Vesicle-associated membrane protein 4 (sprot)


SPD2B_HUMAN SH3 and PX domain-containing protein 2B (sprot)


I5P1_HUMAN Inositol polyphosphate-5-phosphatase A (sprot)


PDS5A_HUMAN Sister chromatid cohesion protein PDS5 homolog A (sprot)


SNR27_HUMAN U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein (sprot)


EIF3G_HUMAN Eukaryotic translation initiation factor 3 subunit G (sprot)


IQGA1_HUMAN Ras GTPase-activating-like protein IQGAP1 (sprot)


KCNT1_HUMAN Potassium channel subfamily T member 1 (sprot)


ARP3C_HUMAN Actin-related protein 3C (sprot)


ADAP2_HUMAN Arf-GAP with dual PH domain-containing protein 2 (sprot)


WDR59_HUMAN GATOR complex protein WDR59 (sprot)


RGS22_HUMAN Regulator of G-protein signaling 22 (sprot)


ACSL1_HUMAN Long-chain-fatty-acid--CoA ligase 1 (sprot)


MFAP4_HUMAN Microfibril-associated glycoprotein 4 (sprot)


PCGF1_HUMAN Polycomb group RING finger protein 1 (sprot)


FHL5_HUMAN Four and a half LIM domains protein 5 (sprot)


CEP20_HUMAN Centrosomal protein 20 (sprot)


CP4AB_HUMAN Cytochrome P450 4A11 (sprot)


NPL4_HUMAN Nuclear protein localization protein 4 homolog (sprot)


RM49_HUMAN 39S ribosomal protein L49, mitochondrial (sprot)


AAAD_HUMAN Arylacetamide deacetylase (sprot)


DVL3_HUMAN Segment polarity protein dishevelled homolog DVL-3 (sprot)


YTDC2_HUMAN 3'-5' RNA helicase YTHDC2 (sprot)


DIC_HUMAN Mitochondrial dicarboxylate carrier (sprot)


DICER_HUMAN Endoribonuclease Dicer (sprot)


ICAM1_HUMAN Intercellular adhesion molecule 1 (sprot)


PDGFC_HUMAN Platelet-derived growth factor C (sprot)


IRF8_HUMAN Interferon regulatory factor 8 (sprot)


WDR72_HUMAN WD repeat-containing protein 72 (sprot)


MMP25_HUMAN Matrix metalloproteinase-25 (sprot)


SCAM5_HUMAN Secretory carrier-associated membrane protein 5 (sprot)


IMPA1_HUMAN Inositol monophosphatase 1 (sprot)


SMC1A_HUMAN Structural maintenance of chromosomes protein 1A (sprot)


RB3GP_HUMAN Rab3 GTPase-activating protein catalytic subunit (sprot)


FAAH2_HUMAN Fatty-acid amide hydrolase 2 (sprot)


THA10_HUMAN THAP domain-containing protein 10 (sprot)


G6PC2_HUMAN Glucose-6-phosphatase 2 (sprot)


RSLBA_HUMAN Ras-like protein family member 11A (sprot)


ESIP1_HUMAN Epithelial-stromal interaction protein 1 (sprot)


TAF5_HUMAN Transcription initiation factor TFIID subunit 5 (sprot)


EDAD_HUMAN Ectodysplasin-A receptor-associated adapter protein (sprot)


SCN7A_HUMAN Sodium channel protein type 7 subunit alpha (sprot)


FOG1_HUMAN Zinc finger protein ZFPM1 (sprot)


PO6F2_HUMAN POU domain, class 6, transcription factor 2 (sprot)


PSME2_HUMAN Proteasome activator complex subunit 2 (sprot)


idiopathic pulmonary arterial hypertension


GBP2_HUMAN Guanylate-binding protein 2 (sprot)


PP4R4_HUMAN Serine/threonine-protein phosphatase 4 regulatory subunit 4 (sprot)


RBGPR_HUMAN Rab3 GTPase-activating protein non-catalytic subunit (sprot)


EAF2_HUMAN ELL-associated factor 2 (sprot)


UPP1_HUMAN Uridine phosphorylase 1 (sprot)


UCP1_HUMAN Mitochondrial brown fat uncoupling protein 1 (sprot)


LY66F_HUMAN Lymphocyte antigen 6 complex locus protein G6f (sprot)


A1CF_HUMAN APOBEC1 complementation factor (sprot)


OSB10_HUMAN Oxysterol-binding protein-related protein 10 (sprot)


GSTM3_HUMAN Glutathione S-transferase Mu 3 (sprot)


DHB12_HUMAN Very-long-chain 3-oxoacyl-CoA reductase (sprot)


ADAL_HUMAN Adenosine deaminase-like protein (sprot)


TEP1_HUMAN Telomerase protein component 1 (sprot)


MIC10_HUMAN MICOS complex subunit MIC10 (sprot)


MUSK_HUMAN Muscle, skeletal receptor tyrosine-protein kinase (sprot)


pharyngeal-cervical-brachial variant of Guillain-Barre syndrome


RWD2B_HUMAN RWD domain-containing protein 2B (sprot)


PMP22_HUMAN Peripheral myelin protein 22 (sprot)


INT4_HUMAN Integrator complex subunit 4 (sprot)


TNKS1_HUMAN Poly [ADP-ribose] polymerase tankyrase-1 (sprot)


CEP97_HUMAN Centrosomal protein of 97 kDa (sprot)


S39A4_HUMAN Zinc transporter ZIP4 (sprot)


NU4M_HUMAN NADH-ubiquinone oxidoreductase chain 4 (sprot)


Ras-related protein Rab-34 isoform NARR (human)


NARF_HUMAN Nuclear prelamin A recognition factor (sprot)


PLCB4_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 (sprot)


SC5A2_HUMAN Sodium/glucose cotransporter 2 (sprot)


FKBP8_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP8 (sprot)


S30BP_HUMAN SAP30-binding protein (sprot)


RAC3_HUMAN Ras-related C3 botulinum toxin substrate 3 (sprot)


ELMO3_HUMAN Engulfment and cell motility protein 3 (sprot)


UST_HUMAN Uronyl 2-sulfotransferase (sprot)


IFT43_HUMAN Intraflagellar transport protein 43 homolog (sprot)


SCAF8_HUMAN SR-related and CTD-associated factor 8 (sprot)


PCID2_HUMAN PCI domain-containing protein 2 (sprot)


ATL3_HUMAN ADAMTS-like protein 3 (sprot)


KCNKH_HUMAN Potassium channel subfamily K member 17 (sprot)


SMRC1_HUMAN SWI/SNF complex subunit SMARCC1 (sprot)


S22AB_HUMAN Solute carrier family 22 member 11 (sprot)


TM39A_HUMAN Transmembrane protein 39A (sprot)


PSD10_HUMAN 26S proteasome non-ATPase regulatory subunit 10 (sprot)


HAND1_HUMAN Heart- and neural crest derivatives-expressed protein 1 (sprot)


GDF8_HUMAN Growth/differentiation factor 8 (sprot)


TDT_HUMAN DNA nucleotidylexotransferase (sprot)


CISD2_HUMAN CDGSH iron-sulfur domain-containing protein 2 (sprot)


SPA24_HUMAN Spermatogenesis-associated protein 24 (sprot)


RF1M_HUMAN Peptide chain release factor 1, mitochondrial (sprot)


polymicrogyria with optic nerve hypoplasia


OBF1_HUMAN POU domain class 2-associating factor 1 (sprot)


leukoencephalopathy with vanishing white matter


developmental and epileptic encephalopathy, 11


IRAK2_HUMAN Interleukin-1 receptor-associated kinase-like 2 (sprot)


MOCS3_HUMAN Adenylyltransferase and sulfurtransferase MOCS3 (sprot)


CRIP1_HUMAN Cysteine-rich protein 1 (sprot)


ZFR_HUMAN Zinc finger RNA-binding protein (sprot)


NLS1_HUMAN Sodium-dependent lysophosphatidylcholine symporter 1 (sprot)


FKB14_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP14 (sprot)


SPE39_HUMAN Spermatogenesis-defective protein 39 homolog (sprot)


DHB2_HUMAN 17-beta-hydroxysteroid dehydrogenase type 2 (sprot)


ASM3B_HUMAN Acid sphingomyelinase-like phosphodiesterase 3b (sprot)


TGM1_HUMAN Protein-glutamine gamma-glutamyltransferase K (sprot)


TM201_HUMAN Transmembrane protein 201 (sprot)


Noonan syndrome-like disorder with loose anagen hair


qualitative or quantitative defects of alpha-dystroglycan


hypogonadotropic hypogonadism 16 with or without anosmia


DHB13_HUMAN 17-beta-hydroxysteroid dehydrogenase 13 (sprot)


Benzene, ethenyl-, polymer with 1,3-butadiene, hydrogenated


RD23B_HUMAN UV excision repair protein RAD23 homolog B (sprot)


SPEG_HUMAN Striated muscle preferentially expressed protein kinase (sprot)


autosomal recessive multiple pterygium syndrome


MYL11_HUMAN Myosin regulatory light chain 11 (sprot)


DUSTY_HUMAN Dual serine/threonine and tyrosine protein kinase (sprot)


TMIG1_HUMAN Transmembrane and immunoglobulin domain-containing protein 1 (sprot)


KCNQ3_HUMAN Potassium voltage-gated channel subfamily KQT member 3 (sprot)


KCMF1_HUMAN E3 ubiquitin-protein ligase KCMF1 (sprot)


TRI11_HUMAN E3 ubiquitin-protein ligase TRIM11 (sprot)


VEGFD_HUMAN Vascular endothelial growth factor D (sprot)


TOM1_HUMAN Target of Myb1 membrane trafficking protein (sprot)


GP173_HUMAN Probable G-protein coupled receptor 173 (sprot)


KCNK2_HUMAN Potassium channel subfamily K member 2 (sprot)


CN028_HUMAN Uncharacterized protein C14orf28 (sprot)


GCP2_HUMAN Gamma-tubulin complex component 2 (sprot)


TMLH_HUMAN Trimethyllysine dioxygenase, mitochondrial (sprot)


ZAR1_HUMAN Zygote arrest protein 1 (sprot)


UB2G1_HUMAN Ubiquitin-conjugating enzyme E2 G1 (sprot)


K2C1B_HUMAN Keratin, type II cytoskeletal 1b (sprot)


BIRC2_HUMAN Baculoviral IAP repeat-containing protein 2 (sprot)


NFE2_HUMAN Transcription factor NF-E2 45 kDa subunit (sprot)


ADA11_HUMAN Disintegrin and metalloproteinase domain-containing protein 11 (sprot)


T-cell childhood acute lymphocytic leukemia


MRM1_HUMAN rRNA methyltransferase 1, mitochondrial (sprot)


DEPD5_HUMAN GATOR complex protein DEPDC5 (sprot)


CCL19_HUMAN C-C motif chemokine 19 (sprot)


SCX_HUMAN Basic helix-loop-helix transcription factor scleraxis (sprot)


SPNS1_HUMAN Protein spinster homolog 1 (sprot)


ACON_HUMAN Aconitate hydratase, mitochondrial (sprot)


spondyloepimetaphyseal dysplasia with multiple dislocations


ISK5_HUMAN Serine protease inhibitor Kazal-type 5 (sprot)


CX6A2_HUMAN Cytochrome c oxidase subunit 6A2, mitochondrial (sprot)


ZGPAT_HUMAN Zinc finger CCCH-type with G patch domain-containing protein (sprot)


RENT2_HUMAN Regulator of nonsense transcripts 2 (sprot)


RHOA_HUMAN Transforming protein RhoA (sprot)


PLCB2_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 (sprot)


red imported fire ant allergenic extract


ACSM1_HUMAN Acyl-coenzyme A synthetase ACSM1, mitochondrial (sprot)


PI51C_HUMAN Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma (sprot)


DDX52_HUMAN Probable ATP-dependent RNA helicase DDX52 (sprot)


MK11_HUMAN Mitogen-activated protein kinase 11 (sprot)


NIT1_HUMAN Deaminated glutathione amidase (sprot)


RS20_HUMAN 40S ribosomal protein S20 (sprot)


DUS22_HUMAN Dual specificity protein phosphatase 22 (sprot)


PLCL2_HUMAN Inactive phospholipase C-like protein 2 (sprot)


DAAF4_HUMAN Dynein axonemal assembly factor 4 (sprot)


UCP2_HUMAN Mitochondrial uncoupling protein 2 (sprot)


ALX1_HUMAN ALX homeobox protein 1 (sprot)


KSR2_HUMAN Kinase suppressor of Ras 2 (sprot)


CXB7_HUMAN Gap junction beta-7 protein (sprot)


ACOHC_HUMAN Cytoplasmic aconitate hydratase (sprot)


UBP36_HUMAN Ubiquitin carboxyl-terminal hydrolase 36 (sprot)


S61A2_HUMAN Protein transport protein Sec61 subunit alpha isoform 2 (sprot)


KCJ10_HUMAN ATP-sensitive inward rectifier potassium channel 10 (sprot)


ANPRB_HUMAN Atrial natriuretic peptide receptor 2 (sprot)


KI2LA_HUMAN Killer cell immunoglobulin-like receptor 2DL5A (sprot)


STAR7_HUMAN StAR-related lipid transfer protein 7, mitochondrial (sprot)


ZBT45_HUMAN Zinc finger and BTB domain-containing protein 45 (sprot)


PRDX3_HUMAN Thioredoxin-dependent peroxide reductase, mitochondrial (sprot)


TM10C_HUMAN tRNA methyltransferase 10 homolog C (sprot)


REG3A_HUMAN Regenerating islet-derived protein 3-alpha (sprot)


T150C_HUMAN Transmembrane protein 150C (sprot)


CY1_HUMAN Cytochrome c1, heme protein, mitochondrial (sprot)


B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 (sprot)


MLF1_HUMAN Myeloid leukemia factor 1 (sprot)


PE2R1_HUMAN Prostaglandin E2 receptor EP1 subtype (sprot)


MEG10_HUMAN Multiple epidermal growth factor-like domains protein 10 (sprot)


EPG5_HUMAN Ectopic P granules protein 5 homolog (sprot)


squamous cell carcinoma of the oral tongue


CLPX_HUMAN ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial (sprot)


DLX1_HUMAN Homeobox protein DLX-1 (sprot)


WDR12_HUMAN Ribosome biogenesis protein WDR12 (sprot)


megalencephalic leukoencephalopathy with subcortical cysts


NHRF2_HUMAN Na(+)/H(+) exchange regulatory cofactor NHE-RF2 (sprot)


CKLF8_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 8 (sprot)


NU153_HUMAN Nuclear pore complex protein Nup153 (sprot)


XAGE1_HUMAN X antigen family member 1 (sprot)


AT8B3_HUMAN Phospholipid-transporting ATPase IK (sprot)


familial hemophagocytic lymphohistiocytosis 5


CL12B_HUMAN C-type lectin domain family 12 member B (sprot)


TIMP1_HUMAN Metalloproteinase inhibitor 1 (sprot)


ZN382_HUMAN Zinc finger protein 382 (sprot)


ADX_HUMAN Adrenodoxin, mitochondrial (sprot)


SPAG8_HUMAN Sperm-associated antigen 8 (sprot)


SPR2B_HUMAN Small proline-rich protein 2B (sprot)


CELF1_HUMAN CUGBP Elav-like family member 1 (sprot)


MRE11_HUMAN Double-strand break repair protein MRE11 (sprot)


KLF16_HUMAN Krueppel-like factor 16 (sprot)


KCNV1_HUMAN Potassium voltage-gated channel subfamily V member 1 (sprot)


PKHA4_HUMAN Pleckstrin homology domain-containing family A member 4 (sprot)


SPR2F_HUMAN Small proline-rich protein 2F (sprot)


SERC5_HUMAN Serine incorporator 5 (sprot)


ASPP1_HUMAN Apoptosis-stimulating of p53 protein 1 (sprot)


HEN2_HUMAN Helix-loop-helix protein 2 (sprot)


CIB3_HUMAN Calcium and integrin-binding family member 3 (sprot)


TPPC8_HUMAN Trafficking protein particle complex subunit 8 (sprot)


SMAD1_HUMAN Mothers against decapentaplegic homolog 1 (sprot)


EPHA4_HUMAN Ephrin type-A receptor 4 (sprot)


APC13_HUMAN Anaphase-promoting complex subunit 13 (sprot)


AASS_HUMAN Alpha-aminoadipic semialdehyde synthase, mitochondrial (sprot)


CSRP2_HUMAN Cysteine and glycine-rich protein 2 (sprot)


SH2D6_HUMAN SH2 domain-containing protein 6 (sprot)


ZDHC5_HUMAN Palmitoyltransferase ZDHHC5 (sprot)


PKHH2_HUMAN Pleckstrin homology domain-containing family H member 2 (sprot)


NDE1_HUMAN Nuclear distribution protein nudE homolog 1 (sprot)


SFPQ_HUMAN Splicing factor, proline- and glutamine-rich (sprot)


TOP2B_HUMAN DNA topoisomerase 2-beta (sprot)


CNOT1_HUMAN CCR4-NOT transcription complex subunit 1 (sprot)


KCNS3_HUMAN Potassium voltage-gated channel subfamily S member 3 (sprot)


SPIT1_HUMAN Kunitz-type protease inhibitor 1 (sprot)


PRR7_HUMAN Proline-rich protein 7 (sprot)


S17A4_HUMAN Probable small intestine urate exporter (sprot)


NCTR1_HUMAN Natural cytotoxicity triggering receptor 1 (sprot)


KIF5C_HUMAN Kinesin heavy chain isoform 5C (sprot)


SUH_HUMAN Recombining binding protein suppressor of hairless (sprot)


SMAP2_HUMAN Stromal membrane-associated protein 2 (sprot)


CHM4B_HUMAN Charged multivesicular body protein 4b (sprot)


3BP1_HUMAN SH3 domain-binding protein 1 (sprot)


DKKL1_HUMAN Dickkopf-like protein 1 (sprot)


BRF2_HUMAN Transcription factor IIIB 50 kDa subunit (sprot)


PIM2_HUMAN Serine/threonine-protein kinase pim-2 (sprot)


TM50B_HUMAN Transmembrane protein 50B (sprot)


EPHB1_HUMAN Ephrin type-B receptor 1 (sprot)


SPRE3_HUMAN Sprouty-related, EVH1 domain-containing protein 3 (sprot)


CEP19_HUMAN Centrosomal protein of 19 kDa (sprot)


COAA1_HUMAN Collagen alpha-1(X) chain (sprot)


KCTD8_HUMAN BTB/POZ domain-containing protein KCTD8 (sprot)


KIF28_HUMAN Kinesin-like protein KIF28P (sprot)


TV23C_HUMAN Golgi apparatus membrane protein TVP23 homolog C (sprot)


SPOC1_HUMAN SPOC domain-containing protein 1 (sprot)


RAD18_HUMAN E3 ubiquitin-protein ligase RAD18 (sprot)


NUDT6_HUMAN Nucleoside diphosphate-linked moiety X motif 6 (sprot)


GNA14_HUMAN Guanine nucleotide-binding protein subunit alpha-14 (sprot)


EPAG_HUMAN Early lymphoid activation gene protein (sprot)


MCRI1_HUMAN Mapk-regulated corepressor-interacting protein 1 (sprot)


RM41_HUMAN 39S ribosomal protein L41, mitochondrial (sprot)


EXOS7_HUMAN Exosome complex component RRP42 (sprot)


SIGL7_HUMAN Sialic acid-binding Ig-like lectin 7 (sprot)


IGF1R_HUMAN Insulin-like growth factor 1 receptor (sprot)


ZNF22_HUMAN Zinc finger protein 22 (sprot)


HELLS_HUMAN Lymphoid-specific helicase (sprot)


CBPN_HUMAN Carboxypeptidase N catalytic chain (sprot)


PDC10_HUMAN Programmed cell death protein 10 (sprot)


PAX1_HUMAN Paired box protein Pax-1 (sprot)


central retinal vein occlusion with macular edema


RGS4_HUMAN Regulator of G-protein signaling 4 (sprot)


BTAF1_HUMAN TATA-binding protein-associated factor 172 (sprot)


M4K4_HUMAN Mitogen-activated protein kinase kinase kinase kinase 4 (sprot)


RHD_HUMAN Blood group Rh(D) polypeptide (sprot)


ECHB_HUMAN Trifunctional enzyme subunit beta, mitochondrial (sprot)


FMO4_HUMAN Dimethylaniline monooxygenase [N-oxide-forming] 4 (sprot)


C1GLT_HUMAN Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (sprot)


NU2M_HUMAN NADH-ubiquinone oxidoreductase chain 2 (sprot)


ZCHC2_HUMAN Zinc finger CCHC domain-containing protein 2 (sprot)


BIRC3_HUMAN Baculoviral IAP repeat-containing protein 3 (sprot)


GHDC_HUMAN GH3 domain-containing protein (sprot)


WFKN2_HUMAN WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 (sprot)


ARC_HUMAN Activity-regulated cytoskeleton-associated protein (sprot)


camptodactyly-tall stature-scoliosis-hearing loss syndrome


INSRR_HUMAN Insulin receptor-related protein (sprot)


CAMKV_HUMAN CaM kinase-like vesicle-associated protein (sprot)


E2F4_HUMAN Transcription factor E2F4 (sprot)


CD24_HUMAN Signal transducer CD24 (sprot)


EDEM2_HUMAN ER degradation-enhancing alpha-mannosidase-like protein 2 (sprot)


PROZ_HUMAN Vitamin K-dependent protein Z (sprot)


ARRD4_HUMAN Arrestin domain-containing protein 4 (sprot)


FBXL5_HUMAN F-box/LRR-repeat protein 5 (sprot)


amyotrophic lateral sclerosis-parkinsonism-dementia complex


FOLR2_HUMAN Folate receptor beta (sprot)


QCR2_HUMAN Cytochrome b-c1 complex subunit 2, mitochondrial (sprot)


TPC1_HUMAN Two pore channel protein 1 (sprot)


TRI56_HUMAN E3 ubiquitin-protein ligase TRIM56 (sprot)


PLGF_HUMAN Placenta growth factor (sprot)


MOT12_HUMAN Monocarboxylate transporter 12 (sprot)


KI16B_HUMAN Kinesin-like protein KIF16B (sprot)


MTA2_HUMAN Metastasis-associated protein MTA2 (sprot)


GEMI6_HUMAN Gem-associated protein 6 (sprot)


ABCG5_HUMAN ATP-binding cassette sub-family G member 5 (sprot)


NPBW1_HUMAN Neuropeptides B/W receptor type 1 (sprot)


LTOR3_HUMAN Ragulator complex protein LAMTOR3 (sprot)


PSMD2_HUMAN 26S proteasome non-ATPase regulatory subunit 2 (sprot)


CSTF1_HUMAN Cleavage stimulation factor subunit 1 (sprot)


TELO2_HUMAN Telomere length regulation protein TEL2 homolog (sprot)


ZC3HE_HUMAN Zinc finger CCCH domain-containing protein 14 (sprot)


PCDG3_HUMAN Protocadherin gamma-A3 (sprot)


CHST5_HUMAN Carbohydrate sulfotransferase 5 (sprot)


cerebral primitive neuroectodermal tumor


ASB6_HUMAN Ankyrin repeat and SOCS box protein 6 (sprot)


SIG15_HUMAN Sialic acid-binding Ig-like lectin 15 (sprot)


CLCL1_HUMAN Putative C-type lectin-like domain family 1 (sprot)


CDK17_HUMAN Cyclin-dependent kinase 17 (sprot)


PRGC2_HUMAN Peroxisome proliferator-activated receptor gamma coactivator 1-beta (sprot)


UBE2B_HUMAN Ubiquitin-conjugating enzyme E2 B (sprot)


NK3R_HUMAN Neuromedin-K receptor (sprot)


SNUT2_HUMAN U4/U6.U5 tri-snRNP-associated protein 2 (sprot)


rhizomelic chondrodysplasia punctata type 1


isolated growth hormone deficiency type IA


ATF1_HUMAN Cyclic AMP-dependent transcription factor ATF-1 (sprot)


CBARP_HUMAN Voltage-dependent calcium channel beta subunit-associated regulatory protein (sprot)


DLX4_HUMAN Homeobox protein DLX-4 (sprot)


AN18A_HUMAN Ankyrin repeat domain-containing protein 18A (sprot)


NOP10_HUMAN H/ACA ribonucleoprotein complex subunit 3 (sprot)


TRPV4_HUMAN Transient receptor potential cation channel subfamily V member 4 (sprot)


LAIR2_HUMAN Leukocyte-associated immunoglobulin-like receptor 2 (sprot)


GLUT4_HUMAN Solute carrier family 2, facilitated glucose transporter member 4 (sprot)


JMY_HUMAN Junction-mediating and -regulatory protein (sprot)


TCAB1_HUMAN Telomerase Cajal body protein 1 (sprot)


SO4A1_HUMAN Solute carrier organic anion transporter family member 4A1 (sprot)


IKKE_HUMAN Inhibitor of nuclear factor kappa-B kinase subunit epsilon (sprot)


CYBP_HUMAN Calcyclin-binding protein (sprot)


DCC1_HUMAN Sister chromatid cohesion protein DCC1 (sprot)


PTER_HUMAN Phosphotriesterase-related protein (sprot)


infiltrating bladder urothelial carcinoma


VGLL2_HUMAN Transcription cofactor vestigial-like protein 2 (sprot)


ADTRP_HUMAN Androgen-dependent TFPI-regulating protein (sprot)


HSDL1_HUMAN Inactive hydroxysteroid dehydrogenase-like protein 1 (sprot)


ODP2_HUMAN Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial (sprot)


SLK_HUMAN STE20-like serine/threonine-protein kinase (sprot)


LHX6_HUMAN LIM/homeobox protein Lhx6 (sprot)


PHF14_HUMAN PHD finger protein 14 (sprot)


TAAR1_HUMAN Trace amine-associated receptor 1 (sprot)


HNRPK_HUMAN Heterogeneous nuclear ribonucleoprotein K (sprot)


HGF_HUMAN Hepatocyte growth factor (sprot)


NONO_HUMAN Non-POU domain-containing octamer-binding protein (sprot)


TIM44_HUMAN Mitochondrial import inner membrane translocase subunit TIM44 (sprot)


KLHL6_HUMAN Kelch-like protein 6 (sprot)


ARMC8_HUMAN Armadillo repeat-containing protein 8 (sprot)


HSDL2_HUMAN Hydroxysteroid dehydrogenase-like protein 2 (sprot)


PUS1_HUMAN Pseudouridylate synthase 1 homolog (sprot)


K1C23_HUMAN Keratin, type I cytoskeletal 23 (sprot)


Epstein-Barr virus-associated gastric carcinoma


PTC1_HUMAN Protein patched homolog 1 (sprot)


TWST1_HUMAN Twist-related protein 1 (sprot)


TF3B_HUMAN Transcription factor IIIB 90 kDa subunit (sprot)


OGT1_HUMAN UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit (sprot)


TMM95_HUMAN Sperm-egg fusion protein TMEM95 (sprot)


SHAN2_HUMAN SH3 and multiple ankyrin repeat domains protein 2 (sprot)


THUM1_HUMAN THUMP domain-containing protein 1 (sprot)


HCN3_HUMAN Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 (sprot)


H2B1O_HUMAN Histone H2B type 1-O (sprot)


CCL17_HUMAN C-C motif chemokine 17 (sprot)


COX10_HUMAN Protoheme IX farnesyltransferase, mitochondrial (sprot)


PLPP5_HUMAN Phospholipid phosphatase 5 (sprot)


PKHF2_HUMAN Pleckstrin homology domain-containing family F member 2 (sprot)


ZBT14_HUMAN Zinc finger and BTB domain-containing protein 14 (sprot)


CXL14_HUMAN C-X-C motif chemokine 14 (sprot)


UBE2T_HUMAN Ubiquitin-conjugating enzyme E2 T (sprot)


CRYL1_HUMAN Lambda-crystallin homolog (sprot)


CLCKA_HUMAN Chloride channel protein ClC-Ka (sprot)


hypertrophic osteoarthropathy, primary, autosomal recessive, 1


PSIP1_HUMAN PC4 and SFRS1-interacting protein (sprot)


JUPI1_HUMAN Jupiter microtubule associated homolog 1 (sprot)


SIAH1_HUMAN E3 ubiquitin-protein ligase SIAH1 (sprot)


PCY1A_HUMAN Choline-phosphate cytidylyltransferase A (sprot)


FSTL3_HUMAN Follistatin-related protein 3 (sprot)


WDR36_HUMAN WD repeat-containing protein 36 (sprot)


FRS2_HUMAN Fibroblast growth factor receptor substrate 2 (sprot)


redroot pigweed whole allergenic extract


LYPD3_HUMAN Ly6/PLAUR domain-containing protein 3 (sprot)


SHBG_HUMAN Sex hormone-binding globulin (sprot)


WIPI4_HUMAN WD repeat domain phosphoinositide-interacting protein 4 (sprot)


LAIR1_HUMAN Leukocyte-associated immunoglobulin-like receptor 1 (sprot)


ZP4_HUMAN Zona pellucida sperm-binding protein 4 (sprot)


SFRP2_HUMAN Secreted frizzled-related protein 2 (sprot)


MFF_HUMAN Mitochondrial fission factor (sprot)


AP2E_HUMAN Transcription factor AP-2-epsilon (sprot)


NDUF2_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 (sprot)


ENPP2_HUMAN Ectonucleotide pyrophosphatase/phosphodiesterase family member 2 (sprot)


ZNF28_HUMAN Zinc finger protein 28 (sprot)


RAB25_HUMAN Ras-related protein Rab-25 (sprot)


infantile-onset X-linked spinal muscular atrophy


ZMAT3_HUMAN Zinc finger matrin-type protein 3 (sprot)


KMT5A_HUMAN N-lysine methyltransferase KMT5A (sprot)


HOOK3_HUMAN Protein Hook homolog 3 (sprot)


LPIN3_HUMAN Phosphatidate phosphatase LPIN3 (sprot)


S4A10_HUMAN Sodium-driven chloride bicarbonate exchanger (sprot)


CP100_HUMAN Cilia- and flagella-associated protein 100 (sprot)


chromosome 17q11.2 deletion syndrome, 1.4Mb


HXA9_HUMAN Homeobox protein Hox-A9 (sprot)


SIX1_HUMAN Homeobox protein SIX1 (sprot)


SIG11_HUMAN Sialic acid-binding Ig-like lectin 11 (sprot)


ASCL1_HUMAN Achaete-scute homolog 1 (sprot)


LEU7_HUMAN Leukemia-associated protein 7 (sprot)


NUDT9_HUMAN ADP-ribose pyrophosphatase, mitochondrial (sprot)


LEAP2_HUMAN Liver-expressed antimicrobial peptide 2 (sprot)


UN13C_HUMAN Protein unc-13 homolog C (sprot)


NOXA1_HUMAN NADPH oxidase activator 1 (sprot)


T53I1_HUMAN Tumor protein p53-inducible nuclear protein 1 (sprot)


INSL6_HUMAN Insulin-like peptide INSL6 (sprot)


NDOR1_HUMAN NADPH-dependent diflavin oxidoreductase 1 (sprot)


mucoepidermoid carcinoma of submandibular gland


autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius


TE2IP_HUMAN Telomeric repeat-binding factor 2-interacting protein 1 (sprot)


MYO7B_HUMAN Unconventional myosin-VIIb (sprot)


ABEC4_HUMAN Putative C->U-editing enzyme APOBEC-4 (sprot)


LT4R2_HUMAN Leukotriene B4 receptor 2 (sprot)


BORG4_HUMAN Cdc42 effector protein 4 (sprot)


FOXR2_HUMAN Forkhead box protein R2 (sprot)


SMC4_HUMAN Structural maintenance of chromosomes protein 4 (sprot)


presynaptic congenital myasthenic syndrome


PRP8_HUMAN Pre-mRNA-processing-splicing factor 8 (sprot)


RN182_HUMAN E3 ubiquitin-protein ligase RNF182 (sprot)


CNKR3_HUMAN Connector enhancer of kinase suppressor of ras 3 (sprot)


ETV5_HUMAN ETS translocation variant 5 (sprot)


K319L_HUMAN Dyslexia-associated protein KIAA0319-like protein (sprot)


IC1_HUMAN Plasma protease C1 inhibitor (sprot)


CNR1_HUMAN Cannabinoid receptor 1 (sprot)


CCM2_HUMAN Cerebral cavernous malformations 2 protein (sprot)


LHPL1_HUMAN LHFPL tetraspan subfamily member 1 protein (sprot)


MP2K1_HUMAN Dual specificity mitogen-activated protein kinase kinase 1 (sprot)


FICD_HUMAN Protein adenylyltransferase FICD (sprot)


IGSF5_HUMAN Immunoglobulin superfamily member 5 (sprot)


DHB11_HUMAN Estradiol 17-beta-dehydrogenase 11 (sprot)


SPAG6_HUMAN Sperm-associated antigen 6 (sprot)


GPX1_HUMAN Glutathione peroxidase 1 (sprot)


RGS11_HUMAN Regulator of G-protein signaling 11 (sprot)


HDA11_HUMAN Histone deacetylase 11 (sprot)


SMG8_HUMAN Nonsense-mediated mRNA decay factor SMG8 (sprot)


RAB4A_HUMAN Ras-related protein Rab-4A (sprot)


S12A9_HUMAN Solute carrier family 12 member 9 (sprot)


HAP40_HUMAN 40-kDa huntingtin-associated protein (sprot)


ANR52_HUMAN Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C (sprot)


BRAP_HUMAN BRCA1-associated protein (sprot)


PLD3B_HUMAN PRELI domain containing protein 3B (sprot)


SAXO2_HUMAN Stabilizer of axonemal microtubules 2 (sprot)


PCBP4_HUMAN Poly(rC)-binding protein 4 (sprot)


PREB_HUMAN Prolactin regulatory element-binding protein (sprot)


XYLK_HUMAN Glycosaminoglycan xylosylkinase (sprot)


AT8A2_HUMAN Phospholipid-transporting ATPase IB (sprot)


SPRN_HUMAN Shadow of prion protein (sprot)


AGAP2_HUMAN Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 (sprot)


FBXW7_HUMAN F-box/WD repeat-containing protein 7 (sprot)


GPR35_HUMAN G-protein coupled receptor 35 (sprot)


TYRP1_HUMAN 5,6-dihydroxyindole-2-carboxylic acid oxidase (sprot)


choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome


VATB2_HUMAN V-type proton ATPase subunit B, brain isoform (sprot)


GPR21_HUMAN Probable G-protein coupled receptor 21 (sprot)


STT3A_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A (sprot)


ATPO_HUMAN ATP synthase subunit O, mitochondrial (sprot)


hereditary disorder of connective tissue


MRPP3_HUMAN Mitochondrial ribonuclease P catalytic subunit (sprot)


MBLC2_HUMAN Acyl-coenzyme A thioesterase MBLAC2 (sprot)


TUTLA_HUMAN Protein turtle homolog A (sprot)


TCL1A_HUMAN T-cell leukemia/lymphoma protein 1A (sprot)


CABP5_HUMAN Calcium-binding protein 5 (sprot)


PLAL1_HUMAN Zinc finger protein PLAGL1 (sprot)


JIP1_HUMAN C-Jun-amino-terminal kinase-interacting protein 1 (sprot)


SGPL1_HUMAN Sphingosine-1-phosphate lyase 1 (sprot)


ROCK1_HUMAN Rho-associated protein kinase 1 (sprot)


5HT3E_HUMAN 5-hydroxytryptamine receptor 3E (sprot)


ESS2_HUMAN Splicing factor ESS-2 homolog (sprot)


PAGE4_HUMAN P antigen family member 4 (sprot)


MYO5B_HUMAN Unconventional myosin-Vb (sprot)


RT02_HUMAN 28S ribosomal protein S2, mitochondrial (sprot)


RGS5_HUMAN Regulator of G-protein signaling 5 (sprot)


EMC1_HUMAN ER membrane protein complex subunit 1 (sprot)


TLRN1_HUMAN Talin rod domain-containing protein 1 (sprot)


ATF6B_HUMAN Cyclic AMP-dependent transcription factor ATF-6 beta (sprot)


PAX8_HUMAN Paired box protein Pax-8 (sprot)


SIDT2_HUMAN SID1 transmembrane family member 2 (sprot)


ERH_HUMAN Enhancer of rudimentary homolog (sprot)


CRCM_HUMAN Colorectal mutant cancer protein (sprot)


ANKL1_HUMAN Ankyrin repeat and LEM domain-containing protein 1 (sprot)


SOSB1_HUMAN SOSS complex subunit B1 (sprot)


RAD_HUMAN GTP-binding protein RAD (sprot)


NSUN4_HUMAN 5-methylcytosine rRNA methyltransferase NSUN4 (sprot)


NEK7_HUMAN Serine/threonine-protein kinase Nek7 (sprot)


RHG35_HUMAN Rho GTPase-activating protein 35 (sprot)


LIN7B_HUMAN Protein lin-7 homolog B (sprot)


multiple congenital anomalies-hypotonia-seizures syndrome 2


CLM6_HUMAN CMRF35-like molecule 6 (sprot)


MOAP1_HUMAN Modulator of apoptosis 1 (sprot)


STAG1_HUMAN Cohesin subunit SA-1 (sprot)


RIOK1_HUMAN Serine/threonine-protein kinase RIO1 (sprot)


CNIH3_HUMAN Protein cornichon homolog 3 (sprot)


NMES1_HUMAN Normal mucosa of esophagus-specific gene 1 protein (sprot)


GRCR2_HUMAN Glutaredoxin domain-containing cysteine-rich protein 2 (sprot)


NECA3_HUMAN N-terminal EF-hand calcium-binding protein 3 (sprot)


UGGG1_HUMAN UDP-glucose:glycoprotein glucosyltransferase 1 (sprot)


FOSL2_HUMAN Fos-related antigen 2 (sprot)


GID8_HUMAN Glucose-induced degradation protein 8 homolog (sprot)


DUS2_HUMAN Dual specificity protein phosphatase 2 (sprot)


SAM11_HUMAN Sterile alpha motif domain-containing protein 11 (sprot)


TRGV3_HUMAN T cell receptor gamma variable 3 (sprot)


S61A1_HUMAN Protein transport protein Sec61 subunit alpha isoform 1 (sprot)


hereditary thrombocytopenia and hematologic cancer predisposition syndrome


F120A_HUMAN Constitutive coactivator of PPAR-gamma-like protein 1 (sprot)


ULBP2_HUMAN UL16-binding protein 2 (sprot)


hemolytic anemia due to pyrimidine 5' nucleotidase deficiency


VWA3B_HUMAN von Willebrand factor A domain-containing protein 3B (sprot)


KAT6B_HUMAN Histone acetyltransferase KAT6B (sprot)


SRTD3_HUMAN SERTA domain-containing protein 3 (sprot)


HES4_HUMAN Transcription factor HES-4 (sprot)


LRIQ3_HUMAN Leucine-rich repeat and IQ domain-containing protein 3 (sprot)


WDR54_HUMAN WD repeat-containing protein 54 (sprot)


CAC1S_HUMAN Voltage-dependent L-type calcium channel subunit alpha-1S (sprot)


ZBT41_HUMAN Zinc finger and BTB domain-containing protein 41 (sprot)


autosomal recessive nonsyndromic hearing loss 67


ATG7_HUMAN Ubiquitin-like modifier-activating enzyme ATG7 (sprot)


PPBI_HUMAN Intestinal-type alkaline phosphatase (sprot)


CO9A1_HUMAN Collagen alpha-1(IX) chain (sprot)


RFA3_HUMAN Replication protein A 14 kDa subunit (sprot)


LMIP_HUMAN Lens fiber membrane intrinsic protein (sprot)


DKC1_HUMAN H/ACA ribonucleoprotein complex subunit DKC1 (sprot)


NAMPT_HUMAN Nicotinamide phosphoribosyltransferase (sprot)


LYNX1_HUMAN Ly-6/neurotoxin-like protein 1 (sprot)


DPH6_HUMAN Diphthine--ammonia ligase (sprot)


AIFM3_HUMAN Apoptosis-inducing factor 3 (sprot)


T184A_HUMAN Transmembrane protein 184A (sprot)


RSBN1_HUMAN Lysine-specific demethylase 9 (sprot)


PGCA_HUMAN Aggrecan core protein (sprot)


OPRM_HUMAN Mu-type opioid receptor (sprot)


PIGZ_HUMAN GPI mannosyltransferase 4 (sprot)


LRWD1_HUMAN Leucine-rich repeat and WD repeat-containing protein 1 (sprot)


SMAD3_HUMAN Mothers against decapentaplegic homolog 3 (sprot)


NMDE2_HUMAN Glutamate receptor ionotropic, NMDA 2B (sprot)