EP300_HUMAN Histone acetyltransferase p300 (sprot)


RM39_HUMAN 39S ribosomal protein L39, mitochondrial (sprot)


PTPRF_HUMAN Receptor-type tyrosine-protein phosphatase F (sprot)


USF1_HUMAN Upstream stimulatory factor 1 (sprot)


PRS7_HUMAN 26S proteasome regulatory subunit 7 (sprot)


TBL1Y_HUMAN F-box-like/WD repeat-containing protein TBL1Y (sprot)


MYBB_HUMAN Myb-related protein B (sprot)


EEA1_HUMAN Early endosome antigen 1 (sprot)


SENP3_HUMAN Sentrin-specific protease 3 (sprot)


IF4G2_HUMAN Eukaryotic translation initiation factor 4 gamma 2 (sprot)


VGLU2_HUMAN Vesicular glutamate transporter 2 (sprot)


LIRB4_HUMAN Leukocyte immunoglobulin-like receptor subfamily B member 4 (sprot)


RN115_HUMAN E3 ubiquitin-protein ligase RNF115 (sprot)


BRWD3_HUMAN Bromodomain and WD repeat-containing protein 3 (sprot)


PRGC1_HUMAN Peroxisome proliferator-activated receptor gamma coactivator 1-alpha (sprot)


ELF3_HUMAN ETS-related transcription factor Elf-3 (sprot)


congenital nephrotic syndrome, Finnish type


tenosynovial giant cell tumor, localized type


MON1B_HUMAN Vacuolar fusion protein MON1 homolog B (sprot)


TRI62_HUMAN E3 ubiquitin-protein ligase TRIM62 (sprot)


familial hemophagocytic lymphohistiocytosis type 1


TPST2_HUMAN Protein-tyrosine sulfotransferase 2 (sprot)


ANR17_HUMAN Ankyrin repeat domain-containing protein 17 (sprot)


CIB4_HUMAN Calcium and integrin-binding family member 4 (sprot)


EMRE_HUMAN Essential MCU regulator, mitochondrial (sprot)


RTL8A_HUMAN Retrotransposon Gag-like protein 8A (sprot)


MAGB4_HUMAN Melanoma-associated antigen B4 (sprot)


ZBT32_HUMAN Zinc finger and BTB domain-containing protein 32 (sprot)


PEX6_HUMAN Peroxisome assembly factor 2 (sprot)


ITIH1_HUMAN Inter-alpha-trypsin inhibitor heavy chain H1 (sprot)


MSH4_HUMAN MutS protein homolog 4 (sprot)


OTUL_HUMAN Ubiquitin thioesterase otulin (sprot)


RPGF3_HUMAN Rap guanine nucleotide exchange factor 3 (sprot)


RAD9B_HUMAN Cell cycle checkpoint control protein RAD9B (sprot)


UBP14_HUMAN Ubiquitin carboxyl-terminal hydrolase 14 (sprot)


M3K3_HUMAN Mitogen-activated protein kinase kinase kinase 3 (sprot)


NKX24_HUMAN Homeobox protein Nkx-2.4 (sprot)


TESK1_HUMAN Dual specificity testis-specific protein kinase 1 (sprot)


KIF3C_HUMAN Kinesin-like protein KIF3C (sprot)


PER3_HUMAN Period circadian protein homolog 3 (sprot)


CEP78_HUMAN Centrosomal protein of 78 kDa (sprot)


AGRD1_HUMAN Adhesion G-protein coupled receptor D1 (sprot)


MCAF1_HUMAN Activating transcription factor 7-interacting protein 1 (sprot)


VPS11_HUMAN Vacuolar protein sorting-associated protein 11 homolog (sprot)


E2F1_HUMAN Transcription factor E2F1 (sprot)


CSK2B_HUMAN Casein kinase II subunit beta (sprot)


GPR4_HUMAN G-protein coupled receptor 4 (sprot)


pulmonary large cell neuroendocrine carcinoma


CKAP5_HUMAN Cytoskeleton-associated protein 5 (sprot)


IPP_HUMAN Actin-binding protein IPP (sprot)


myelodysplastic syndrome with ring sideroblasts


combined malonic and methylmalonic acidemia


LMLN_HUMAN Leishmanolysin-like peptidase (sprot)


ICMT_HUMAN Protein-S-isoprenylcysteine O-methyltransferase (sprot)


RL15_HUMAN 60S ribosomal protein L15 (sprot)


FYN_HUMAN Tyrosine-protein kinase Fyn (sprot)


RN175_HUMAN RING finger protein 175 (sprot)


ACS2L_HUMAN Acetyl-coenzyme A synthetase 2-like, mitochondrial (sprot)


FADD_HUMAN FAS-associated death domain protein (sprot)


ARGI2_HUMAN Arginase-2, mitochondrial (sprot)


MPPE1_HUMAN Metallophosphoesterase 1 (sprot)


FRAS1_HUMAN Extracellular matrix organizing protein FRAS1 (sprot)


TAB1_HUMAN TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 (sprot)


gallbladder small cell neuroendocrine carcinoma


AL1A3_HUMAN Aldehyde dehydrogenase family 1 member A3 (sprot)


UBR3_HUMAN E3 ubiquitin-protein ligase UBR3 (sprot)


TMM9B_HUMAN Transmembrane protein 9B (sprot)


CEBPG_HUMAN CCAAT/enhancer-binding protein gamma (sprot)


ARP5L_HUMAN Actin-related protein 2/3 complex subunit 5-like protein (sprot)


RN19A_HUMAN E3 ubiquitin-protein ligase RNF19A (sprot)


TM41A_HUMAN Transmembrane protein 41A (sprot)


gastric small cell neuroendocrine carcinoma


NR3L1_HUMAN Natural cytotoxicity triggering receptor 3 ligand 1 (sprot)


IRF3_HUMAN Interferon regulatory factor 3 (sprot)


KI20B_HUMAN Kinesin-like protein KIF20B (sprot)


SIA7E_HUMAN Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (sprot)


BHE41_HUMAN Class E basic helix-loop-helix protein 41 (sprot)


SMC3_HUMAN Structural maintenance of chromosomes protein 3 (sprot)


CPEB4_HUMAN Cytoplasmic polyadenylation element-binding protein 4 (sprot)


TMM54_HUMAN Transmembrane protein 54 (sprot)


SARNP_HUMAN SAP domain-containing ribonucleoprotein (sprot)


ARF4_HUMAN ADP-ribosylation factor 4 (sprot)


CPSF1_HUMAN Cleavage and polyadenylation specificity factor subunit 1 (sprot)


MAR1_HUMAN Melanoma antigen recognized by T-cells 1 (sprot)


pancreatic gastrin-producing neuroendocrine tumor


CSMD1_HUMAN CUB and sushi domain-containing protein 1 (sprot)


GWL_HUMAN Serine/threonine-protein kinase greatwall (sprot)


RDH12_HUMAN Retinol dehydrogenase 12 (sprot)


GRAP2_HUMAN GRB2-related adapter protein 2 (sprot)


AN32E_HUMAN Acidic leucine-rich nuclear phosphoprotein 32 family member E (sprot)


CAC1C_HUMAN Voltage-dependent L-type calcium channel subunit alpha-1C (sprot)


microcephalic primordial dwarfism, Alazami type


CD37L_HUMAN Hsp90 co-chaperone Cdc37-like 1 (sprot)


HERP2_HUMAN Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein (sprot)


YPEL1_HUMAN Protein yippee-like 1 (sprot)


EFHD2_HUMAN EF-hand domain-containing protein D2 (sprot)


clear cell papillary renal cell carcinoma


NEIL2_HUMAN Endonuclease 8-like 2 (sprot)


CSPG5_HUMAN Chondroitin sulfate proteoglycan 5 (sprot)


TBL3_HUMAN Transducin beta-like protein 3 (sprot)


SYRC_HUMAN Arginine--tRNA ligase, cytoplasmic (sprot)


MMP2_HUMAN 72 kDa type IV collagenase (sprot)


TA2R_HUMAN Thromboxane A2 receptor (sprot)


PDPK1_HUMAN 3-phosphoinositide-dependent protein kinase 1 (sprot)


severe early-childhood-onset retinal dystrophy


SLIRP_HUMAN SRA stem-loop-interacting RNA-binding protein, mitochondrial (sprot)


SGF29_HUMAN SAGA-associated factor 29 (sprot)


IREB2_HUMAN Iron-responsive element-binding protein 2 (sprot)


MED17_HUMAN Mediator of RNA polymerase II transcription subunit 17 (sprot)


CD19_HUMAN B-lymphocyte antigen CD19 (sprot)


TRI34_HUMAN Tripartite motif-containing protein 34 (sprot)


FXL22_HUMAN F-box and leucine-rich protein 22 (sprot)


SIN3A_HUMAN Paired amphipathic helix protein Sin3a (sprot)


NSDHL_HUMAN Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (sprot)


AHNK_HUMAN Neuroblast differentiation-associated protein AHNAK (sprot)


FBW1A_HUMAN F-box/WD repeat-containing protein 1A (sprot)


MYO9B_HUMAN Unconventional myosin-IXb (sprot)


TIP39_HUMAN Tuberoinfundibular peptide of 39 residues (sprot)


idiopathic macular telangiectasia type 1


DLP1_HUMAN All trans-polyprenyl-diphosphate synthase PDSS2 (sprot)


ING2_HUMAN Inhibitor of growth protein 2 (sprot)


HTRA1_HUMAN Serine protease HTRA1 (sprot)


VATA_HUMAN V-type proton ATPase catalytic subunit A (sprot)


SPEF1_HUMAN Sperm flagellar protein 1 (sprot)


combined immunodeficiency due to CD3gamma deficiency


KCNH8_HUMAN Potassium voltage-gated channel subfamily H member 8 (sprot)


PTN7_HUMAN Tyrosine-protein phosphatase non-receptor type 7 (sprot)


CENPH_HUMAN Centromere protein H (sprot)


LC7L2_HUMAN Putative RNA-binding protein Luc7-like 2 (sprot)


MYD88_HUMAN Myeloid differentiation primary response protein MyD88 (sprot)


CAPZB_HUMAN F-actin-capping protein subunit beta (sprot)


CGBP1_HUMAN CGG triplet repeat-binding protein 1 (sprot)


ING3_HUMAN Inhibitor of growth protein 3 (sprot)


F120C_HUMAN Constitutive coactivator of PPAR-gamma-like protein 2 (sprot)


GNAO_HUMAN Guanine nucleotide-binding protein G(o) subunit alpha (sprot)


ZAP70_HUMAN Tyrosine-protein kinase ZAP-70 (sprot)


DQA2_HUMAN HLA class II histocompatibility antigen, DQ alpha 2 chain (sprot)


VAT1_HUMAN Synaptic vesicle membrane protein VAT-1 homolog (sprot)


S6A15_HUMAN Sodium-dependent neutral amino acid transporter B(0)AT2 (sprot)


SEC13_HUMAN Protein SEC13 homolog (sprot)


FAIM1_HUMAN Fas apoptotic inhibitory molecule 1 (sprot)


T4S18_HUMAN Transmembrane 4 L6 family member 18 (sprot)


ankyloblepharon-ectodermal defects-cleft lip/palate syndrome


VAMP8_HUMAN Vesicle-associated membrane protein 8 (sprot)


APRG1_HUMAN APRG1 tumor suppressor candidate (sprot)


ML12A_HUMAN Myosin regulatory light chain 12A (sprot)


FOXN2_HUMAN Forkhead box protein N2 (sprot)


Charcot-Marie-Tooth disease dominant intermediate C


FXL21_HUMAN Putative F-box/LRR-repeat protein 21 (sprot)


myasthenia gravis with thymus hyperplasia


PAGE2_HUMAN P antigen family member 2 (sprot)


MTU1_HUMAN Mitochondrial tRNA-specific 2-thiouridylase 1 (sprot)


AK1C4_HUMAN Aldo-keto reductase family 1 member C4 (sprot)


K2C5_HUMAN Keratin, type II cytoskeletal 5 (sprot)


TOP3B_HUMAN DNA topoisomerase 3-beta-1 (sprot)


TRML4_HUMAN Trem-like transcript 4 protein (sprot)


RASF4_HUMAN Ras association domain-containing protein 4 (sprot)


C1TM_HUMAN Monofunctional C1-tetrahydrofolate synthase, mitochondrial (sprot)


ANR39_HUMAN Ankyrin repeat domain-containing protein 39 (sprot)


ASXL1_HUMAN Polycomb group protein ASXL1 (sprot)


USH1G_HUMAN pre-mRNA splicing regulator USH1G (sprot)


CADM2_HUMAN Cell adhesion molecule 2 (sprot)


EXOC5_HUMAN Exocyst complex component 5 (sprot)


EIF3B_HUMAN Eukaryotic translation initiation factor 3 subunit B (sprot)


GCFC2_HUMAN Intron Large complex component GCFC2 (sprot)


GPSM3_HUMAN G-protein-signaling modulator 3 (sprot)


PIHD1_HUMAN PIH1 domain-containing protein 1 (sprot)


PABP5_HUMAN Polyadenylate-binding protein 5 (sprot)


SODE_HUMAN Extracellular superoxide dismutase [Cu-Zn] (sprot)


EPHAA_HUMAN Ephrin type-A receptor 10 (sprot)


liver and intrahepatic bile duct neoplasm


TRI48_HUMAN E3 ubiquitin-protein ligase TRIM48 (sprot)


PKHO2_HUMAN Pleckstrin homology domain-containing family O member 2 (sprot)


AP2A2_HUMAN AP-2 complex subunit alpha-2 (sprot)


SUMO1_HUMAN Small ubiquitin-related modifier 1 (sprot)


PON1_HUMAN Serum paraoxonase/arylesterase 1 (sprot)


AAPK1_HUMAN 5'-AMP-activated protein kinase catalytic subunit alpha-1 (sprot)


NXNL2_HUMAN Nucleoredoxin-like protein 2 (sprot)


autoimmune disease, susceptibility to, 4


SYVN1_HUMAN E3 ubiquitin-protein ligase synoviolin (sprot)


CILP1_HUMAN Cartilage intermediate layer protein 1 (sprot)


LRFN4_HUMAN Leucine-rich repeat and fibronectin type-III domain-containing protein 4 (sprot)


NECA1_HUMAN N-terminal EF-hand calcium-binding protein 1 (sprot)


BAHC1_HUMAN BAH and coiled-coil domain-containing protein 1 (sprot)


TATD1_HUMAN Deoxyribonuclease TATDN1 (sprot)


HEM3_HUMAN Porphobilinogen deaminase (sprot)


SRFB1_HUMAN Serum response factor-binding protein 1 (sprot)


DVL1_HUMAN Segment polarity protein dishevelled homolog DVL-1 (sprot)


IMA1_HUMAN Importin subunit alpha-1 (sprot)


SREC_HUMAN Scavenger receptor class F member 1 (sprot)


CSN5_HUMAN COP9 signalosome complex subunit 5 (sprot)


SOBP_HUMAN Sine oculis-binding protein homolog (sprot)


GLIS1_HUMAN Zinc finger protein GLIS1 (sprot)


CEAM1_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 1 (sprot)


CCL21_HUMAN C-C motif chemokine 21 (sprot)


pancreatic intraductal papillary-mucinous neoplasm


RS12_HUMAN 40S ribosomal protein S12 (sprot)


CMAH_HUMAN Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase (sprot)


B3GN2_HUMAN N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 (sprot)


TRM6_HUMAN tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6 (sprot)


SRTD1_HUMAN SERTA domain-containing protein 1 (sprot)


acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome


ZBT10_HUMAN Zinc finger and BTB domain-containing protein 10 (sprot)


KLH35_HUMAN Kelch-like protein 35 (sprot)


ECM1_HUMAN Extracellular matrix protein 1 (sprot)


CF015_HUMAN Uncharacterized protein C6orf15 (sprot)


IOD1_HUMAN Type I iodothyronine deiodinase (sprot)


MORN5_HUMAN MORN repeat-containing protein 5 (sprot)


RPAB4_HUMAN DNA-directed RNA polymerases I, II, and III subunit RPABC4 (sprot)


ZN215_HUMAN Zinc finger protein 215 (sprot)


STBD1_HUMAN Starch-binding domain-containing protein 1 (sprot)


INAR2_HUMAN Interferon alpha/beta receptor 2 (sprot)


AL8A1_HUMAN 2-aminomuconic semialdehyde dehydrogenase (sprot)


ADHX_HUMAN Alcohol dehydrogenase class-3 (sprot)


MO4L2_HUMAN Mortality factor 4-like protein 2 (sprot)


HXB8_HUMAN Homeobox protein Hox-B8 (sprot)


ZRAB2_HUMAN Zinc finger Ran-binding domain-containing protein 2 (sprot)


S13A5_HUMAN Na(+)/citrate cotransporter (sprot)


CLM8_HUMAN CMRF35-like molecule 8 (sprot)


CAP2_HUMAN Adenylyl cyclase-associated protein 2 (sprot)


RS4X_HUMAN 40S ribosomal protein S4, X isoform (sprot)


SCN9A_HUMAN Sodium channel protein type 9 subunit alpha (sprot)


TF2AA_HUMAN Transcription initiation factor IIA subunit 1 (sprot)


ZN143_HUMAN Zinc finger protein 143 (sprot)


MYPOP_HUMAN Myb-related transcription factor, partner of profilin (sprot)


CDK3_HUMAN Cyclin-dependent kinase 3 (sprot)


RBP56_HUMAN TATA-binding protein-associated factor 2N (sprot)


DDX3Y_HUMAN ATP-dependent RNA helicase DDX3Y (sprot)


distal myopathy with anterior tibial onset


ETV6_HUMAN Transcription factor ETV6 (sprot)


GMPPB_HUMAN Mannose-1-phosphate guanyltransferase beta (sprot)


pancreatic triacylglycerol lipase deficiency


ZHX3_HUMAN Zinc fingers and homeoboxes protein 3 (sprot)


OGRL1_HUMAN Opioid growth factor receptor-like protein 1 (sprot)


ZDHC1_HUMAN Palmitoyltransferase ZDHHC1 (sprot)


SMTL1_HUMAN Smoothelin-like protein 1 (sprot)


FGF12_HUMAN Fibroblast growth factor 12 (sprot)


BST1_HUMAN ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 (sprot)


ALAT1_HUMAN Alanine aminotransferase 1 (sprot)


ZBT7A_HUMAN Zinc finger and BTB domain-containing protein 7A (sprot)


PLPL3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 (sprot)


WEE1_HUMAN Wee1-like protein kinase (sprot)


IFT57_HUMAN Intraflagellar transport protein 57 homolog (sprot)


TF2H5_HUMAN General transcription factor IIH subunit 5 (sprot)


PEX3_HUMAN Peroxisomal biogenesis factor 3 (sprot)


familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis


XRCC5_HUMAN X-ray repair cross-complementing protein 5 (sprot)


SCC4_HUMAN MAU2 chromatid cohesion factor homolog (sprot)


CNNM4_HUMAN Metal transporter CNNM4 (sprot)


GLE1_HUMAN mRNA export factor GLE1 (sprot)


CACO2_HUMAN Calcium-binding and coiled-coil domain-containing protein 2 (sprot)


CR3L1_HUMAN Cyclic AMP-responsive element-binding protein 3-like protein 1 (sprot)


ZBT16_HUMAN Zinc finger and BTB domain-containing protein 16 (sprot)


G37L1_HUMAN G-protein coupled receptor 37-like 1 (sprot)


TARB1_HUMAN Probable methyltransferase TARBP1 (sprot)


BRM1L_HUMAN Breast cancer metastasis-suppressor 1-like protein (sprot)


GRPE2_HUMAN GrpE protein homolog 2, mitochondrial (sprot)


DDX58_HUMAN Antiviral innate immune response receptor RIG-I (sprot)


ST1E1_HUMAN Sulfotransferase 1E1 (sprot)


IGHA1_HUMAN Immunoglobulin heavy constant alpha 1 (sprot)


GCNT3_HUMAN Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 (sprot)


neurodegeneration with brain iron accumulation 2B


PEG10_HUMAN Retrotransposon-derived protein PEG10 (sprot)


NMT2_HUMAN Glycylpeptide N-tetradecanoyltransferase 2 (sprot)


S6A17_HUMAN Sodium-dependent neutral amino acid transporter SLC6A17 (sprot)


DHI1_HUMAN 11-beta-hydroxysteroid dehydrogenase 1 (sprot)


CLIC2_HUMAN Chloride intracellular channel protein 2 (sprot)


ACE_HUMAN Angiotensin-converting enzyme (sprot)


HXA1_HUMAN Homeobox protein Hox-A1 (sprot)


NKX12_HUMAN NK1 transcription factor-related protein 2 (sprot)


ULA1_HUMAN NEDD8-activating enzyme E1 regulatory subunit (sprot)


HAP28_HUMAN 28 kDa heat- and acid-stable phosphoprotein (sprot)


LAG3_HUMAN Lymphocyte activation gene 3 protein (sprot)


KRT35_HUMAN Keratin, type I cuticular Ha5 (sprot)


C1QT3_HUMAN Complement C1q tumor necrosis factor-related protein 3 (sprot)


PCDGL_HUMAN Protocadherin gamma-C4 (sprot)


GOGB1_HUMAN Golgin subfamily B member 1 (sprot)


CHRD1_HUMAN Cysteine and histidine-rich domain-containing protein 1 (sprot)


malignant Sertoli-Leydig cell tumor of ovary


TERB1_HUMAN Telomere repeats-binding bouquet formation protein 1 (sprot)


ERBB4_HUMAN Receptor tyrosine-protein kinase erbB-4 (sprot)


MARH2_HUMAN E3 ubiquitin-protein ligase MARCHF2 (sprot)


RILP_HUMAN Rab-interacting lysosomal protein (sprot)


MCHL1_HUMAN Putative pro-MCH-like protein 1 (sprot)


NAA16_HUMAN N-alpha-acetyltransferase 16, NatA auxiliary subunit (sprot)


Syncephalastrum racemosum allergenic extract


mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations


U2AFL_HUMAN Putative U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1 (sprot)


GFI1_HUMAN Zinc finger protein Gfi-1 (sprot)


chronic myelogenous leukemia, BCR-ABL1 positive


pyruvate dehydrogenase E3-binding protein deficiency


HFE_HUMAN Hereditary hemochromatosis protein (sprot)


SMG5_HUMAN Nonsense-mediated mRNA decay factor SMG5 (sprot)


PTN21_HUMAN Tyrosine-protein phosphatase non-receptor type 21 (sprot)


LRRT3_HUMAN Leucine-rich repeat transmembrane neuronal protein 3 (sprot)


IG2AS_HUMAN Putative insulin-like growth factor 2 antisense gene protein (sprot)


CY24A_HUMAN Cytochrome b-245 light chain (sprot)


BLNK_HUMAN B-cell linker protein (sprot)


DPOLA_HUMAN DNA polymerase alpha catalytic subunit (sprot)


DHB7_HUMAN 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 (sprot)


aniridia-cerebellar ataxia-intellectual disability syndrome


NDST1_HUMAN Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 (sprot)


VCY2_HUMAN Testis-specific basic protein Y 2 (sprot)


ZN256_HUMAN Zinc finger protein 256 (sprot)


Sulfuric acid, iron(3+) salt (3:2), pentahydrate


PRRX2_HUMAN Paired mesoderm homeobox protein 2 (sprot)


SOS1_HUMAN Son of sevenless homolog 1 (sprot)


TAXB1_HUMAN Tax1-binding protein 1 (sprot)


SMHD1_HUMAN Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (sprot)


BT2A2_HUMAN Butyrophilin subfamily 2 member A2 (sprot)


VASP_HUMAN Vasodilator-stimulated phosphoprotein (sprot)


GDF15_HUMAN Growth/differentiation factor 15 (sprot)


PCDGD_HUMAN Protocadherin gamma-B1 (sprot)


NEUL3_HUMAN E3 ubiquitin-protein ligase NEURL3 (sprot)


RM36_HUMAN 39S ribosomal protein L36, mitochondrial (sprot)


BARX1_HUMAN Homeobox protein BarH-like 1 (sprot)


myalgic encephalomeyelitis/chronic fatigue syndrome


IFM5_HUMAN Interferon-induced transmembrane protein 5 (sprot)


MARK1_HUMAN Serine/threonine-protein kinase MARK1 (sprot)


ATPB_HUMAN ATP synthase subunit beta, mitochondrial (sprot)


TINAL_HUMAN Tubulointerstitial nephritis antigen-like (sprot)


ELP2_HUMAN Elongator complex protein 2 (sprot)


JKIP2_HUMAN Janus kinase and microtubule-interacting protein 2 (sprot)


UBP29_HUMAN Ubiquitin carboxyl-terminal hydrolase 29 (sprot)


HIPK4_HUMAN Homeodomain-interacting protein kinase 4 (sprot)


L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase, mitochondrial (sprot)


TXN4B_HUMAN Thioredoxin-like protein 4B (sprot)


DNA-directed RNA polymerase II subunit GRINL1A isoform 6 (human)


NLRC3_HUMAN NLR family CARD domain-containing protein 3 (sprot)


SPTA1_HUMAN Spectrin alpha chain, erythrocytic 1 (sprot)


MAF_HUMAN Transcription factor Maf (sprot)


F16P1_HUMAN Fructose-1,6-bisphosphatase 1 (sprot)


CO6_HUMAN Complement component C6 (sprot)


TNNT3_HUMAN Troponin T, fast skeletal muscle (sprot)


ABC3D_HUMAN DNA dC->dU-editing enzyme APOBEC-3D (sprot)


CPNS1_HUMAN Calpain small subunit 1 (sprot)


TM50A_HUMAN Transmembrane protein 50A (sprot)


K2C75_HUMAN Keratin, type II cytoskeletal 75 (sprot)


UBP54_HUMAN Inactive ubiquitin carboxyl-terminal hydrolase 54 (sprot)


hypoplastic tibiae-postaxial polydactyly syndrome


CCR1_HUMAN C-C chemokine receptor type 1 (sprot)


BRSK2_HUMAN Serine/threonine-protein kinase BRSK2 (sprot)


CLC9A_HUMAN C-type lectin domain family 9 member A (sprot)


hereditary sensory and autonomic neuropathy type 4


SPAS2_HUMAN Spermatogenesis-associated serine-rich protein 2 (sprot)


CDKL2_HUMAN Cyclin-dependent kinase-like 2 (sprot)


DDA1_HUMAN DET1- and DDB1-associated protein 1 (sprot)


S22AI_HUMAN Solute carrier family 22 member 18 (sprot)


RASD1_HUMAN Dexamethasone-induced Ras-related protein 1 (sprot)


TONSL_HUMAN Tonsoku-like protein (sprot)


3HAO_HUMAN 3-hydroxyanthranilate 3,4-dioxygenase (sprot)


GPR87_HUMAN G-protein coupled receptor 87 (sprot)


HSF4_HUMAN Heat shock factor protein 4 (sprot)


U119B_HUMAN Protein unc-119 homolog B (sprot)


CDCA3_HUMAN Cell division cycle-associated protein 3 (sprot)


RPC2_HUMAN DNA-directed RNA polymerase III subunit RPC2 (sprot)


PCDA3_HUMAN Protocadherin alpha-3 (sprot)


RFOX3_HUMAN RNA binding protein fox-1 homolog 3 (sprot)


ERI1_HUMAN 3'-5' exoribonuclease 1 (sprot)


NOC4L_HUMAN Nucleolar complex protein 4 homolog (sprot)


NHRF1_HUMAN Na(+)/H(+) exchange regulatory cofactor NHE-RF1 (sprot)


S2512_HUMAN Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial (sprot)


TRI55_HUMAN Tripartite motif-containing protein 55 (sprot)


postural orthostatic tachycardia syndrome


CREM_HUMAN cAMP-responsive element modulator (sprot)


MYPC1_HUMAN Myosin-binding protein C, slow-type (sprot)


OLR1_HUMAN Oxidized low-density lipoprotein receptor 1 (sprot)


AKT2_HUMAN RAC-beta serine/threonine-protein kinase (sprot)


PPME1_HUMAN Protein phosphatase methylesterase 1 (sprot)


EPHA1_HUMAN Ephrin type-A receptor 1 (sprot)


PRS37_HUMAN Probable inactive serine protease 37 (sprot)


DCAF8_HUMAN DDB1- and CUL4-associated factor 8 (sprot)


chronic atrial and intestinal dysrhythmia


RICTR_HUMAN Rapamycin-insensitive companion of mTOR (sprot)


PRRX1_HUMAN Paired mesoderm homeobox protein 1 (sprot)


small intestine neuroendocrine tumor, well differentiated, low or intermediate grade


ARP5_HUMAN Actin-related protein 5 (sprot)


ENDD1_HUMAN Endonuclease domain-containing 1 protein (sprot)


T2R10_HUMAN Taste receptor type 2 member 10 (sprot)


TOX3_HUMAN TOX high mobility group box family member 3 (sprot)


OSBL7_HUMAN Oxysterol-binding protein-related protein 7 (sprot)


S14L1_HUMAN SEC14-like protein 1 (sprot)


MARK2_HUMAN Serine/threonine-protein kinase MARK2 (sprot)


S35F5_HUMAN Solute carrier family 35 member F5 (sprot)


CXCR5_HUMAN C-X-C chemokine receptor type 5 (sprot)


RP1L1_HUMAN Retinitis pigmentosa 1-like 1 protein (sprot)


GTR11_HUMAN Solute carrier family 2, facilitated glucose transporter member 11 (sprot)


KS6A5_HUMAN Ribosomal protein S6 kinase alpha-5 (sprot)


RAB28_HUMAN Ras-related protein Rab-28 (sprot)


CLM1_HUMAN CMRF35-like molecule 1 (sprot)


VGFR3_HUMAN Vascular endothelial growth factor receptor 3 (sprot)


SKP2_HUMAN S-phase kinase-associated protein 2 (sprot)


MELK_HUMAN Maternal embryonic leucine zipper kinase (sprot)


LPAR5_HUMAN Lysophosphatidic acid receptor 5 (sprot)


NMD3B_HUMAN Glutamate receptor ionotropic, NMDA 3B (sprot)


STXB2_HUMAN Syntaxin-binding protein 2 (sprot)


RL3R1_HUMAN Relaxin-3 receptor 1 (sprot)


SUN2_HUMAN SUN domain-containing protein 2 (sprot)


TAAR3_HUMAN Putative trace amine-associated receptor 3 (sprot)


metastatic malignant neoplasm in the eye


RMXL1_HUMAN RNA binding motif protein, X-linked-like-1 (sprot)


SARM1_HUMAN NAD(+) hydrolase SARM1 (sprot)


cardiomyopathy, familial hypertrophic 27


MED30_HUMAN Mediator of RNA polymerase II transcription subunit 30 (sprot)


HMCS2_HUMAN Hydroxymethylglutaryl-CoA synthase, mitochondrial (sprot)


Abnormal cerebral white matter morphology


AAKG1_HUMAN 5'-AMP-activated protein kinase subunit gamma-1 (sprot)


S22AN_HUMAN Solute carrier family 22 member 23 (sprot)


GAPR1_HUMAN Golgi-associated plant pathogenesis-related protein 1 (sprot)


PGBD3_HUMAN PiggyBac transposable element-derived protein 3 (sprot)


ALG8-congenital disorder of glycosylation


HNRH1_HUMAN Heterogeneous nuclear ribonucleoprotein H (sprot)


CCL3_HUMAN C-C motif chemokine 3 (sprot)


RHG05_HUMAN Rho GTPase-activating protein 5 (sprot)


SAE2_HUMAN SUMO-activating enzyme subunit 2 (sprot)


CXCL9_HUMAN C-X-C motif chemokine 9 (sprot)


PSA6_HUMAN Proteasome subunit alpha type-6 (sprot)


C42S2_HUMAN CDC42 small effector protein 2 (sprot)


GLYR1_HUMAN Cytokine-like nuclear factor N-PAC (sprot)


AT2B3_HUMAN Plasma membrane calcium-transporting ATPase 3 (sprot)


PRGR_HUMAN Progesterone receptor (sprot)


MDR1_HUMAN ATP-dependent translocase ABCB1 (sprot)


NSD1_HUMAN Histone-lysine N-methyltransferase, H3 lysine-36 specific (sprot)


STKL1_HUMAN Serine/threonine kinase-like domain-containing protein STKLD1 (sprot)


DDB2_HUMAN DNA damage-binding protein 2 (sprot)


GDF10_HUMAN Growth/differentiation factor 10 (sprot)


OR2C1_HUMAN Olfactory receptor 2C1 (sprot)


RING1_HUMAN E3 ubiquitin-protein ligase RING1 (sprot)


NCOA7_HUMAN Nuclear receptor coactivator 7 (sprot)


ALG11_HUMAN GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase (sprot)


ENTP1_HUMAN Ectonucleoside triphosphate diphosphohydrolase 1 (sprot)


HPSE2_HUMAN Inactive heparanase-2 (sprot)


POTE1_HUMAN Protection of telomeres protein 1 (sprot)


ACH10_HUMAN Neuronal acetylcholine receptor subunit alpha-10 (sprot)


ZCH12_HUMAN Zinc finger CCHC domain-containing protein 12 (sprot)


LRP2_HUMAN Low-density lipoprotein receptor-related protein 2 (sprot)


FKBP2_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP2 (sprot)


CRERF_HUMAN CREB3 regulatory factor (sprot)


GNTK_HUMAN Probable gluconokinase (sprot)


HXD8_HUMAN Homeobox protein Hox-D8 (sprot)


DRC5_HUMAN Dynein regulatory complex subunit 5 (sprot)


PAQR2_HUMAN Adiponectin receptor protein 2 (sprot)


COX19_HUMAN Cytochrome c oxidase assembly protein COX19 (sprot)


RT29_HUMAN 28S ribosomal protein S29, mitochondrial (sprot)


NTAQ1_HUMAN Protein N-terminal glutamine amidohydrolase (sprot)


WDR20_HUMAN WD repeat-containing protein 20 (sprot)


EF1A2_HUMAN Elongation factor 1-alpha 2 (sprot)


DJC25_HUMAN DnaJ homolog subfamily C member 25 (sprot)


MO2R2_HUMAN Cell surface glycoprotein CD200 receptor 2 (sprot)


NSMF_HUMAN NMDA receptor synaptonuclear signaling and neuronal migration factor (sprot)


FACR2_HUMAN Fatty acyl-CoA reductase 2 (sprot)


SOAT2_HUMAN Sterol O-acyltransferase 2 (sprot)


FCER2_HUMAN Low affinity immunoglobulin epsilon Fc receptor (sprot)


GSTP1_HUMAN Glutathione S-transferase P (sprot)


ADCY8_HUMAN Adenylate cyclase type 8 (sprot)


HS3S5_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 5 (sprot)


ASM3A_HUMAN Acid sphingomyelinase-like phosphodiesterase 3a (sprot)


LYN_HUMAN Tyrosine-protein kinase Lyn (sprot)


NKX23_HUMAN Homeobox protein Nkx-2.3 (sprot)


selective pituitary resistance to thyroid hormone


GBGT1_HUMAN Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (sprot)


TAF1D_HUMAN TATA box-binding protein-associated factor RNA polymerase I subunit D (sprot)


IL3RB_HUMAN Cytokine receptor common subunit beta (sprot)


HTRA3_HUMAN Serine protease HTRA3 (sprot)


NOXO1_HUMAN NADPH oxidase organizer 1 (sprot)


SSRG_HUMAN Translocon-associated protein subunit gamma (sprot)


RSP14_HUMAN Radial spoke head 14 homolog (sprot)


S4A5_HUMAN Electrogenic sodium bicarbonate cotransporter 4 (sprot)


malignant adrenal gland pheochromocytoma


ABL1_HUMAN Tyrosine-protein kinase ABL1 (sprot)


autosomal dominant rhegmatogenous retinal detachment


benign childhood occipital epilepsy, Panayiotopoulos type


AG10A_HUMAN Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase (sprot)


ILEU_HUMAN Leukocyte elastase inhibitor (sprot)


KLH12_HUMAN Kelch-like protein 12 (sprot)


NMDE3_HUMAN Glutamate receptor ionotropic, NMDA 2C (sprot)


RN208_HUMAN RING finger protein 208 (sprot)


UBP42_HUMAN Ubiquitin carboxyl-terminal hydrolase 42 (sprot)


WDR73_HUMAN WD repeat-containing protein 73 (sprot)


PLCD3_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 (sprot)


TMTC3_HUMAN Protein O-mannosyl-transferase TMTC3 (sprot)


MOGS-congenital disorder of glycosylation


CO6A3_HUMAN Collagen alpha-3(VI) chain (sprot)


EAF6_HUMAN Chromatin modification-related protein MEAF6 (sprot)


SPESP_HUMAN Sperm equatorial segment protein 1 (sprot)


permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome


FGFP3_HUMAN Fibroblast growth factor-binding protein 3 (sprot)


medulloblastoma with extensive nodularity


PLPL2_HUMAN Patatin-like phospholipase domain-containing protein 2 (sprot)


GEN_HUMAN Flap endonuclease GEN homolog 1 (sprot)


KNDC1_HUMAN Kinase non-catalytic C-lobe domain-containing protein 1 (sprot)


NDUB7_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 (sprot)


RFC1_HUMAN Replication factor C subunit 1 (sprot)


SEBOX_HUMAN Homeobox protein SEBOX (sprot)


S26A9_HUMAN Solute carrier family 26 member 9 (sprot)


TF2L1_HUMAN Transcription factor CP2-like protein 1 (sprot)


PRAF1_HUMAN Prenylated Rab acceptor protein 1 (sprot)


ACRBP_HUMAN Acrosin-binding protein (sprot)


APMAP_HUMAN Adipocyte plasma membrane-associated protein (sprot)


ATG2A_HUMAN Autophagy-related protein 2 homolog A (sprot)


UBP49_HUMAN Ubiquitin carboxyl-terminal hydrolase 49 (sprot)


IL36A_HUMAN Interleukin-36 alpha (sprot)


RGRF2_HUMAN Ras-specific guanine nucleotide-releasing factor 2 (sprot)


HECA2_HUMAN HEPACAM family member 2 (sprot)


HEM6_HUMAN Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial (sprot)


E2F5_HUMAN Transcription factor E2F5 (sprot)


REV3L_HUMAN DNA polymerase zeta catalytic subunit (sprot)


ZIK1_HUMAN Zinc finger protein interacting with ribonucleoprotein K (sprot)


VSTM5_HUMAN V-set and transmembrane domain-containing protein 5 (sprot)


S2546_HUMAN Mitochondrial outer membrane protein SLC25A46 (sprot)


PARD3_HUMAN Partitioning defective 3 homolog (sprot)


Cushing syndrome due to macronodular adrenal hyperplasia


DNPEP_HUMAN Aspartyl aminopeptidase (sprot)


NGBR_HUMAN Dehydrodolichyl diphosphate synthase complex subunit NUS1 (sprot)


DNJA3_HUMAN DnaJ homolog subfamily A member 3, mitochondrial (sprot)


M3K4_HUMAN Mitogen-activated protein kinase kinase kinase 4 (sprot)


ASMT_HUMAN Acetylserotonin O-methyltransferase (sprot)


TBCC_HUMAN Tubulin-specific chaperone C (sprot)


autoimmune encephalopathy with parasomnia and obstructive sleep apnea


RHBL1_HUMAN Rhomboid-related protein 1 (sprot)


TGS1_HUMAN Trimethylguanosine synthase (sprot)


dystrophic epidermolysis bullosa pruriginosa


immunodeficiency-centromeric instability-facial anomalies syndrome


PARL_HUMAN Presenilins-associated rhomboid-like protein, mitochondrial (sprot)


ENDOU_HUMAN Uridylate-specific endoribonuclease (sprot)


PEPL1_HUMAN Probable aminopeptidase NPEPL1 (sprot)


MAP12_HUMAN Methionine aminopeptidase 1D, mitochondrial (sprot)


PRI1_HUMAN DNA primase small subunit (sprot)


CLAP2_HUMAN CLIP-associating protein 2 (sprot)


OVGP1_HUMAN Oviduct-specific glycoprotein (sprot)


ZN695_HUMAN Zinc finger protein 695 (sprot)


ATG9A_HUMAN Autophagy-related protein 9A (sprot)


SHKB1_HUMAN SH3KBP1-binding protein 1 (sprot)


MAP1A_HUMAN Microtubule-associated protein 1A (sprot)


ID3_HUMAN DNA-binding protein inhibitor ID-3 (sprot)


SSBP2_HUMAN Single-stranded DNA-binding protein 2 (sprot)


S4A7_HUMAN Sodium bicarbonate cotransporter 3 (sprot)


DDX1_HUMAN ATP-dependent RNA helicase DDX1 (sprot)


DTL_HUMAN Denticleless protein homolog (sprot)


5HT1B_HUMAN 5-hydroxytryptamine receptor 1B (sprot)


S29A2_HUMAN Equilibrative nucleoside transporter 2 (sprot)


STAC2_HUMAN SH3 and cysteine-rich domain-containing protein 2 (sprot)


XRCC2_HUMAN DNA repair protein XRCC2 (sprot)


PRR14_HUMAN Proline-rich protein 14 (sprot)


CD20B_HUMAN Cell division cycle protein 20 homolog B (sprot)


chondrodysplasia with joint dislocations, gPAPP type


DHR12_HUMAN Dehydrogenase/reductase SDR family member 12 (sprot)


RTCB_HUMAN RNA-splicing ligase RtcB homolog (sprot)


NPCL1_HUMAN NPC1-like intracellular cholesterol transporter 1 (sprot)


NCKPL_HUMAN Nck-associated protein 1-like (sprot)


K1C16_HUMAN Keratin, type I cytoskeletal 16 (sprot)


congenital muscular dystrophy due to LMNA mutation


SCAM4_HUMAN Secretory carrier-associated membrane protein 4 (sprot)


SOCS5_HUMAN Suppressor of cytokine signaling 5 (sprot)


SYPM_HUMAN Probable proline--tRNA ligase, mitochondrial (sprot)


capillary malformation-arteriovenous malformation syndrome


agenesis of the corpus callosum with peripheral neuropathy


hereditary thrombophilia due to congenital protein C deficiency


AGRG5_HUMAN Adhesion G-protein coupled receptor G5 (sprot)


MGMT_HUMAN Methylated-DNA--protein-cysteine methyltransferase (sprot)


HTR5B_HUMAN HEAT repeat-containing protein 5B (sprot)


frontotemporal dementia and/or amyotrophic lateral sclerosis 1


APC15_HUMAN Anaphase-promoting complex subunit 15 (sprot)


SEC63_HUMAN Translocation protein SEC63 homolog (sprot)


TXD12_HUMAN Thioredoxin domain-containing protein 12 (sprot)


LAX1_HUMAN Lymphocyte transmembrane adapter 1 (sprot)


EMX1_HUMAN Homeobox protein EMX1 (sprot)


PURB_HUMAN Transcriptional activator protein Pur-beta (sprot)


PDE9A_HUMAN High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A (sprot)


neuropathy, hereditary sensory and autonomic, type 2A


BDH_HUMAN D-beta-hydroxybutyrate dehydrogenase, mitochondrial (sprot)


ARHG2_HUMAN Rho guanine nucleotide exchange factor 2 (sprot)


IRPL1_HUMAN Interleukin-1 receptor accessory protein-like 1 (sprot)


GOSR2_HUMAN Golgi SNAP receptor complex member 2 (sprot)


CNNM3_HUMAN Metal transporter CNNM3 (sprot)


TMM79_HUMAN Transmembrane protein 79 (sprot)


BCL7B_HUMAN B-cell CLL/lymphoma 7 protein family member B (sprot)


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


SH21B_HUMAN SH2 domain-containing protein 1B (sprot)


L1CAM_HUMAN Neural cell adhesion molecule L1 (sprot)


THIK_HUMAN 3-ketoacyl-CoA thiolase, peroxisomal (sprot)


TRPC6_HUMAN Short transient receptor potential channel 6 (sprot)


XPP1_HUMAN Xaa-Pro aminopeptidase 1 (sprot)


ZN132_HUMAN Zinc finger protein 132 (sprot)


SIGL9_HUMAN Sialic acid-binding Ig-like lectin 9 (sprot)


LMX1B_HUMAN LIM homeobox transcription factor 1-beta (sprot)


ENTP2_HUMAN Ectonucleoside triphosphate diphosphohydrolase 2 (sprot)


PRS4_HUMAN 26S proteasome regulatory subunit 4 (sprot)


ZN717_HUMAN Zinc finger protein 717 (sprot)


GCNT1_HUMAN Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase (sprot)


SO2B1_HUMAN Solute carrier organic anion transporter family member 2B1 (sprot)


CELF6_HUMAN CUGBP Elav-like family member 6 (sprot)


LGI2_HUMAN Leucine-rich repeat LGI family member 2 (sprot)


KAP2_HUMAN cAMP-dependent protein kinase type II-alpha regulatory subunit (sprot)


TMC7_HUMAN Transmembrane channel-like protein 7 (sprot)


TRI45_HUMAN Tripartite motif-containing protein 45 (sprot)


KCMB2_HUMAN Calcium-activated potassium channel subunit beta-2 (sprot)


SLAF7_HUMAN SLAM family member 7 (sprot)


HMDH_HUMAN 3-hydroxy-3-methylglutaryl-coenzyme A reductase (sprot)


PDIA5_HUMAN Protein disulfide-isomerase A5 (sprot)


RS9_HUMAN 40S ribosomal protein S9 (sprot)


IL27A_HUMAN Interleukin-27 subunit alpha (sprot)


LSM7_HUMAN U6 snRNA-associated Sm-like protein LSm7 (sprot)


RM33_HUMAN 39S ribosomal protein L33, mitochondrial (sprot)


CIAO3_HUMAN Cytosolic iron-sulfur assembly component 3 (sprot)


UHMK1_HUMAN Serine/threonine-protein kinase Kist (sprot)


HECD1_HUMAN E3 ubiquitin-protein ligase HECTD1 (sprot)


AEN_HUMAN Apoptosis-enhancing nuclease (sprot)


KCIP4_HUMAN Kv channel-interacting protein 4 (sprot)


RT28_HUMAN 28S ribosomal protein S28, mitochondrial (sprot)


ESYT3_HUMAN Extended synaptotagmin-3 (sprot)


CD3E_HUMAN T-cell surface glycoprotein CD3 epsilon chain (sprot)


LYAR_HUMAN Cell growth-regulating nucleolar protein (sprot)


PAK3_HUMAN Serine/threonine-protein kinase PAK 3 (sprot)


SYAC_HUMAN Alanine--tRNA ligase, cytoplasmic (sprot)


SYMC_HUMAN Methionine--tRNA ligase, cytoplasmic (sprot)


ADA17_HUMAN Disintegrin and metalloproteinase domain-containing protein 17 (sprot)


TBC3G_HUMAN TBC1 domain family member 3G (sprot)


CE290_HUMAN Centrosomal protein of 290 kDa (sprot)


lung combined large cell neuroendocrine carcinoma


KIF7_HUMAN Kinesin-like protein KIF7 (sprot)


RIMB1_HUMAN Peripheral-type benzodiazepine receptor-associated protein 1 (sprot)


PDGFD_HUMAN Platelet-derived growth factor D (sprot)


MEI4_HUMAN Meiosis-specific protein MEI4 (sprot)


CPXM1_HUMAN Probable carboxypeptidase X1 (sprot)


MET_HUMAN Hepatocyte growth factor receptor (sprot)


ARC1A_HUMAN Actin-related protein 2/3 complex subunit 1A (sprot)


RBM5_HUMAN RNA-binding protein 5 (sprot)


NUP50_HUMAN Nuclear pore complex protein Nup50 (sprot)


ADAP1_HUMAN Arf-GAP with dual PH domain-containing protein 1 (sprot)


TM163_HUMAN Transmembrane protein 163 (sprot)


HOOK2_HUMAN Protein Hook homolog 2 (sprot)


TTLL5_HUMAN Tubulin polyglutamylase TTLL5 (sprot)


CLIP1_HUMAN CAP-Gly domain-containing linker protein 1 (sprot)


Z280B_HUMAN Zinc finger protein 280B (sprot)


UBP50_HUMAN Inactive ubiquitin carboxyl-terminal hydrolase 50 (sprot)


hypertelorism-preauricular sinus-punctual pits-deafness syndrome


ABCD1_HUMAN ATP-binding cassette sub-family D member 1 (sprot)


IBP4_HUMAN Insulin-like growth factor-binding protein 4 (sprot)


SPTC1_HUMAN Serine palmitoyltransferase 1 (sprot)


ENK6_HUMAN Endogenous retrovirus group K member 6 Env polyprotein (sprot)


CDK4_HUMAN Cyclin-dependent kinase 4 (sprot)


CD244_HUMAN Natural killer cell receptor 2B4 (sprot)


acute myeloid leukemia with 11q23 abnormalities


FGF10_HUMAN Fibroblast growth factor 10 (sprot)


TYSD1_HUMAN Peroxisomal leader peptide-processing protease (sprot)


F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 (sprot)


ABI3_HUMAN ABI gene family member 3 (sprot)


UBXN4_HUMAN UBX domain-containing protein 4 (sprot)


SUN1_HUMAN SUN domain-containing protein 1 (sprot)


RPB3_HUMAN DNA-directed RNA polymerase II subunit RPB3 (sprot)


pyruvate dehydrogenase E1-alpha deficiency


CXB1_HUMAN Gap junction beta-1 protein (sprot)


ARHGJ_HUMAN Rho guanine nucleotide exchange factor 19 (sprot)


KBTBD_HUMAN Kelch repeat and BTB domain-containing protein 13 (sprot)


PTPM1_HUMAN Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 (sprot)


CCPG1_HUMAN Cell cycle progression protein 1 (sprot)


CEA20_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 20 (sprot)


COP1_HUMAN E3 ubiquitin-protein ligase COP1 (sprot)


MFS12_HUMAN Major facilitator superfamily domain-containing protein 12 (sprot)


R3GEF_HUMAN Guanine nucleotide exchange factor for Rab-3A (sprot)


BCL3_HUMAN B-cell lymphoma 3 protein (sprot)


WASP_HUMAN Actin nucleation-promoting factor WAS (sprot)


TEAD2_HUMAN Transcriptional enhancer factor TEF-4 (sprot)


NRBP_HUMAN Nuclear receptor-binding protein (sprot)


CCL1_HUMAN C-C motif chemokine 1 (sprot)


LAMP1_HUMAN Lysosome-associated membrane glycoprotein 1 (sprot)


P5CR2_HUMAN Pyrroline-5-carboxylate reductase 2 (sprot)


KRA32_HUMAN Keratin-associated protein 3-2 (sprot)


KDM6B_HUMAN Lysine-specific demethylase 6B (sprot)


DJC14_HUMAN DnaJ homolog subfamily C member 14 (sprot)


IHH_HUMAN Indian hedgehog protein (sprot)


WWP1_HUMAN NEDD4-like E3 ubiquitin-protein ligase WWP1 (sprot)


PARP8_HUMAN Protein mono-ADP-ribosyltransferase PARP8 (sprot)


LIGO1_HUMAN Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 (sprot)


ZNF16_HUMAN Zinc finger protein 16 (sprot)


DYLT2_HUMAN Dynein light chain Tctex-type protein 2 (sprot)


TET1_HUMAN Methylcytosine dioxygenase TET1 (sprot)


MAST3_HUMAN Microtubule-associated serine/threonine-protein kinase 3 (sprot)


TA2R7_HUMAN Taste receptor type 2 member 7 (sprot)


SCND1_HUMAN SCAN domain-containing protein 1 (sprot)


GBRA2_HUMAN Gamma-aminobutyric acid receptor subunit alpha-2 (sprot)


KCNU1_HUMAN Potassium channel subfamily U member 1 (sprot)


KMT2C_HUMAN Histone-lysine N-methyltransferase 2C (sprot)


ANM2_HUMAN Protein arginine N-methyltransferase 2 (sprot)


SIM1_HUMAN Single-minded homolog 1 (sprot)


ADA33_HUMAN Disintegrin and metalloproteinase domain-containing protein 33 (sprot)


GIPC2_HUMAN PDZ domain-containing protein GIPC2 (sprot)


T53I2_HUMAN Tumor protein p53-inducible nuclear protein 2 (sprot)


HAUS2_HUMAN HAUS augmin-like complex subunit 2 (sprot)


PKHA8_HUMAN Pleckstrin homology domain-containing family A member 8 (sprot)


NCMAP_HUMAN Noncompact myelin-associated protein (sprot)


autosomal recessive Emery-Dreifuss muscular dystrophy


S22A8_HUMAN Organic anion transporter 3 (sprot)


DAAM2_HUMAN Disheveled-associated activator of morphogenesis 2 (sprot)


VSIG4_HUMAN V-set and immunoglobulin domain-containing protein 4 (sprot)


RET_HUMAN Proto-oncogene tyrosine-protein kinase receptor Ret (sprot)


MAIP1_HUMAN m-AAA protease-interacting protein 1, mitochondrial (sprot)


CO6A2_HUMAN Collagen alpha-2(VI) chain (sprot)


MAMD1_HUMAN Mastermind-like domain-containing protein 1 (sprot)


RIPR2_HUMAN Rho family-interacting cell polarization regulator 2 (sprot)


IMA8_HUMAN Importin subunit alpha-8 (sprot)


SCNND_HUMAN Amiloride-sensitive sodium channel subunit delta (sprot)


JERKY_HUMAN Jerky protein homolog (sprot)


I27RA_HUMAN Interleukin-27 receptor subunit alpha (sprot)


CXCR6_HUMAN C-X-C chemokine receptor type 6 (sprot)


FKB11_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP11 (sprot)


PKHF1_HUMAN Pleckstrin homology domain-containing family F member 1 (sprot)


MAON_HUMAN NADP-dependent malic enzyme, mitochondrial (sprot)


DLG5_HUMAN Disks large homolog 5 (sprot)


SHLD2_HUMAN Shieldin complex subunit 2 (sprot)


LAMC2_HUMAN Laminin subunit gamma-2 (sprot)


RM35_HUMAN 39S ribosomal protein L35, mitochondrial (sprot)


PEX13_HUMAN Peroxisomal membrane protein PEX13 (sprot)


TFEC_HUMAN Transcription factor EC (sprot)


aromatic L-amino acid decarboxylase deficiency


KCJ14_HUMAN ATP-sensitive inward rectifier potassium channel 14 (sprot)


GNAL_HUMAN Guanine nucleotide-binding protein G(olf) subunit alpha (sprot)


CAH11_HUMAN Carbonic anhydrase-related protein 11 (sprot)


TACD2_HUMAN Tumor-associated calcium signal transducer 2 (sprot)


RBPS2_HUMAN RNA-binding protein with multiple splicing 2 (sprot)


autosomal recessive nonsyndromic hearing loss 7


PCDA1_HUMAN Protocadherin alpha-1 (sprot)


NOA1_HUMAN Nitric oxide-associated protein 1 (sprot)


NOVA1_HUMAN RNA-binding protein Nova-1 (sprot)


facial dysmorphism-immunodeficiency-livedo-short stature syndrome


TGR3L_HUMAN Transforming growth factor-beta receptor type 3-like protein (sprot)


European house dust mite allergenic extract


EVX2_HUMAN Homeobox even-skipped homolog protein 2 (sprot)


hearing loss, mixed conductive-sensorineural


EGFL8_HUMAN Epidermal growth factor-like protein 8 (sprot)


GUC2F_HUMAN Retinal guanylyl cyclase 2 (sprot)


SOX30_HUMAN Transcription factor SOX-30 (sprot)


LRP1B_HUMAN Low-density lipoprotein receptor-related protein 1B (sprot)


ISG20_HUMAN Interferon-stimulated gene 20 kDa protein (sprot)


SG11B_HUMAN Sperm-associated antigen 11B (sprot)


ZN394_HUMAN Zinc finger protein 394 (sprot)


LARG2_HUMAN Xylosyl- and glucuronyltransferase LARGE2 (sprot)


ALKB8_HUMAN Alkylated DNA repair protein alkB homolog 8 (sprot)


MAF1_HUMAN Repressor of RNA polymerase III transcription MAF1 homolog (sprot)


BARH1_HUMAN BarH-like 1 homeobox protein (sprot)


thyroid gland diffuse large B-cell lymphoma


CD79A_HUMAN B-cell antigen receptor complex-associated protein alpha chain (sprot)


congenital disorder of glycosylation type II


LIPR2_HUMAN Pancreatic lipase-related protein 2 (sprot)


PA1B3_HUMAN Platelet-activating factor acetylhydrolase IB subunit alpha1 (sprot)


SHOC2_HUMAN Leucine-rich repeat protein SHOC-2 (sprot)


NIM1_HUMAN Serine/threonine-protein kinase NIM1 (sprot)


isolated focal cortical dysplasia type II


CP20A_HUMAN Cytochrome P450 20A1 (sprot)


PRD11_HUMAN PR domain-containing protein 11 (sprot)


COMD4_HUMAN COMM domain-containing protein 4 (sprot)


BICC1_HUMAN Protein bicaudal C homolog 1 (sprot)


Seizure precipitated by febrile infection


XPP2_HUMAN Xaa-Pro aminopeptidase 2 (sprot)


C1QBP_HUMAN Complement component 1 Q subcomponent-binding protein, mitochondrial (sprot)


TNNC1_HUMAN Troponin C, slow skeletal and cardiac muscles (sprot)


ARAID_HUMAN All-trans retinoic acid-induced differentiation factor (sprot)


DJC11_HUMAN DnaJ homolog subfamily C member 11 (sprot)


WDR35_HUMAN WD repeat-containing protein 35 (sprot)


JUND_HUMAN Transcription factor JunD (sprot)


TFAM_HUMAN Transcription factor A, mitochondrial (sprot)


TGM7_HUMAN Protein-glutamine gamma-glutamyltransferase Z (sprot)


RAB18_HUMAN Ras-related protein Rab-18 (sprot)


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2


GDPP1_HUMAN GDP-D-glucose phosphorylase 1 (sprot)


SPIT2_HUMAN Kunitz-type protease inhibitor 2 (sprot)


3-(4-Hydroxyphenyl)-4,5-dihydro-5-isoxazole-acetic acid methyl ester


EXOS2_HUMAN Exosome complex component RRP4 (sprot)


KEAP1_HUMAN Kelch-like ECH-associated protein 1 (sprot)


NU6M_HUMAN NADH-ubiquinone oxidoreductase chain 6 (sprot)


T22D2_HUMAN TSC22 domain family protein 2 (sprot)


CCD25_HUMAN Coiled-coil domain-containing protein 25 (sprot)


UTP6_HUMAN U3 small nucleolar RNA-associated protein 6 homolog (sprot)


TMF1_HUMAN TATA element modulatory factor (sprot)


GRM3_HUMAN Metabotropic glutamate receptor 3 (sprot)


HBAZ_HUMAN Hemoglobin subunit zeta (sprot)


CCDC6_HUMAN Coiled-coil domain-containing protein 6 (sprot)


ZN169_HUMAN Zinc finger protein 169 (sprot)


CACP_HUMAN Carnitine O-acetyltransferase (sprot)


RUXG_HUMAN Small nuclear ribonucleoprotein G (sprot)


CDN1A_HUMAN Cyclin-dependent kinase inhibitor 1 (sprot)


KHDR3_HUMAN KH domain-containing, RNA-binding, signal transduction-associated protein 3 (sprot)


PSDE_HUMAN 26S proteasome non-ATPase regulatory subunit 14 (sprot)


GASP1_HUMAN G-protein coupled receptor-associated sorting protein 1 (sprot)


ACAP2_HUMAN Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 (sprot)


R4RL1_HUMAN Reticulon-4 receptor-like 1 (sprot)


YTHD1_HUMAN YTH domain-containing family protein 1 (sprot)


TPP2_HUMAN Tripeptidyl-peptidase 2 (sprot)


multiple self-healing squamous epithelioma


M3K19_HUMAN Mitogen-activated protein kinase kinase kinase 19 (sprot)


RHCE_HUMAN Blood group Rh(CE) polypeptide (sprot)


POMT2_HUMAN Protein O-mannosyl-transferase 2 (sprot)


ASB12_HUMAN Ankyrin repeat and SOCS box protein 12 (sprot)


infantile Bartter syndrome with sensorineural deafness


MC3R_HUMAN Melanocortin receptor 3 (sprot)


SVIP_HUMAN Small VCP/p97-interacting protein (sprot)


PRD10_HUMAN PR domain zinc finger protein 10 (sprot)


PAGE1_HUMAN P antigen family member 1 (sprot)


TRI40_HUMAN E3 ubiquitin ligase TRIM40 (sprot)


AGRL4_HUMAN Adhesion G protein-coupled receptor L4 (sprot)


FIG4_HUMAN Polyphosphoinositide phosphatase (sprot)


GBRG3_HUMAN Gamma-aminobutyric acid receptor subunit gamma-3 (sprot)


NEC2_HUMAN Neuroendocrine convertase 2 (sprot)


PCH2_HUMAN Pachytene checkpoint protein 2 homolog (sprot)


cutis marmorata telangiectatica congenita


DEF3_HUMAN Neutrophil defensin 3 (sprot)


SAMP_HUMAN Serum amyloid P-component (sprot)


AKAP5_HUMAN A-kinase anchor protein 5 (sprot)


CDK2_HUMAN Cyclin-dependent kinase 2 (sprot)


EID3_HUMAN EP300-interacting inhibitor of differentiation 3 (sprot)


UBL7_HUMAN Ubiquitin-like protein 7 (sprot)


CTDSL_HUMAN CTD small phosphatase-like protein (sprot)


ADT1_HUMAN ADP/ATP translocase 1 (sprot)


autosomal recessive congenital ichthyosis


KXDL1_HUMAN KxDL motif-containing protein 1 (sprot)


multiple congenital anomalies/dysmorphic syndrome-intellectual disability


GDS1_HUMAN Rap1 GTPase-GDP dissociation stimulator 1 (sprot)


SMAD6_HUMAN Mothers against decapentaplegic homolog 6 (sprot)


OR1A1_HUMAN Olfactory receptor 1A1 (sprot)


MY18B_HUMAN Unconventional myosin-XVIIIb (sprot)


SE1L1_HUMAN Protein sel-1 homolog 1 (sprot)


NPVF_HUMAN Pro-FMRFamide-related neuropeptide VF (sprot)


ZXDC_HUMAN Zinc finger protein ZXDC (sprot)


INSC_HUMAN Protein inscuteable homolog (sprot)


KI2L2_HUMAN Killer cell immunoglobulin-like receptor 2DL2 (sprot)


AT1B1_HUMAN Sodium/potassium-transporting ATPase subunit beta-1 (sprot)


S41A2_HUMAN Solute carrier family 41 member 2 (sprot)


JAM2_HUMAN Junctional adhesion molecule B (sprot)


RBM20_HUMAN RNA-binding protein 20 (sprot)


spondyloepimetaphyseal dysplasia, sponastrime type


DNJA2_HUMAN DnaJ homolog subfamily A member 2 (sprot)


AT1A3_HUMAN Sodium/potassium-transporting ATPase subunit alpha-3 (sprot)


NUDC_HUMAN Nuclear migration protein nudC (sprot)


RPAB5_HUMAN DNA-directed RNA polymerases I, II, and III subunit RPABC5 (sprot)


S22A2_HUMAN Solute carrier family 22 member 2 (sprot)


AKTIP_HUMAN AKT-interacting protein (sprot)


VEGFC_HUMAN Vascular endothelial growth factor C (sprot)


TM127_HUMAN Transmembrane protein 127 (sprot)


autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)


TMX2_HUMAN Thioredoxin-related transmembrane protein 2 (sprot)


VSIG2_HUMAN V-set and immunoglobulin domain-containing protein 2 (sprot)


VTCN1_HUMAN V-set domain-containing T-cell activation inhibitor 1 (sprot)


NUFP2_HUMAN FMR1-interacting protein NUFIP2 (sprot)


TRPT1_HUMAN tRNA 2'-phosphotransferase 1 (sprot)


R4RL2_HUMAN Reticulon-4 receptor-like 2 (sprot)


persistent hyperplastic primary vitreous


FKTN_HUMAN Ribitol-5-phosphate transferase FKTN (sprot)


TM6S2_HUMAN Transmembrane 6 superfamily member 2 (sprot)


PRC1_HUMAN Protein regulator of cytokinesis 1 (sprot)


SNAPN_HUMAN SNARE-associated protein Snapin (sprot)


major salivary gland mucoepidermoid carcinoma


FUCT1_HUMAN GDP-fucose transporter 1 (sprot)


congenital non-bullous ichthyosiform erythroderma


ATG12_HUMAN Ubiquitin-like protein ATG12 (sprot)


hereditary angioedema with C1Inh deficiency


MCF2L_HUMAN Guanine nucleotide exchange factor DBS (sprot)


NXPE2_HUMAN NXPE family member 2 (sprot)


SRBP1_HUMAN Sterol regulatory element-binding protein 1 (sprot)


KI21B_HUMAN Kinesin-like protein KIF21B (sprot)


TRM1_HUMAN tRNA (guanine(26)-N(2))-dimethyltransferase (sprot)


KTAP2_HUMAN Keratinocyte-associated protein 2 (sprot)


AP2S1_HUMAN AP-2 complex subunit sigma (sprot)


TIGAR_HUMAN Fructose-2,6-bisphosphatase TIGAR (sprot)


MRGRF_HUMAN Mas-related G-protein coupled receptor member F (sprot)


SEN54_HUMAN tRNA-splicing endonuclease subunit Sen54 (sprot)


OTC_HUMAN Ornithine transcarbamylase, mitochondrial (sprot)


interstitial lung disease specific to childhood


OIT3_HUMAN Oncoprotein-induced transcript 3 protein (sprot)


KCNH4_HUMAN Potassium voltage-gated channel subfamily H member 4 (sprot)


DRGX_HUMAN Dorsal root ganglia homeobox protein (sprot)


ZDHC2_HUMAN Palmitoyltransferase ZDHHC2 (sprot)


TEN1L_HUMAN CST complex subunit TEN1 (sprot)


KLF11_HUMAN Krueppel-like factor 11 (sprot)


RGDSR_HUMAN Ral-GDS-related protein (sprot)


KANL2_HUMAN KAT8 regulatory NSL complex subunit 2 (sprot)


MSMO1_HUMAN Methylsterol monooxygenase 1 (sprot)


GBRB3_HUMAN Gamma-aminobutyric acid receptor subunit beta-3 (sprot)


Charcot-Marie-Tooth disease axonal type 2P


continuous spikes and waves during sleep


RGPS1_HUMAN Ras-specific guanine nucleotide-releasing factor RalGPS1 (sprot)


ELP3_HUMAN Elongator complex protein 3 (sprot)


ZBED1_HUMAN E3 SUMO-protein ligase ZBED1 (sprot)


RAI3_HUMAN Retinoic acid-induced protein 3 (sprot)


MCAT_HUMAN Mitochondrial carnitine/acylcarnitine carrier protein (sprot)


RNF6_HUMAN E3 ubiquitin-protein ligase RNF6 (sprot)


juvenile amyotrophic lateral sclerosis with dementia


hereditary cryohydrocytosis with reduced stomatin


autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency


cortical dysplasia-focal epilepsy syndrome


GRID2_HUMAN Glutamate receptor ionotropic, delta-2 (sprot)


HEY1_HUMAN Hairy/enhancer-of-split related with YRPW motif protein 1 (sprot)


short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome


non-classic congenital adrenal hyperplasia


FFAR4_HUMAN Free fatty acid receptor 4 (sprot)


SHC4_HUMAN SHC-transforming protein 4 (sprot)


UFO_HUMAN Tyrosine-protein kinase receptor UFO (sprot)


TRAT1_HUMAN T-cell receptor-associated transmembrane adapter 1 (sprot)


GBRD_HUMAN Gamma-aminobutyric acid receptor subunit delta (sprot)


I2BPL_HUMAN Probable E3 ubiquitin-protein ligase IRF2BPL (sprot)


RND1_HUMAN Rho-related GTP-binding protein Rho6 (sprot)


PRAG1_HUMAN Inactive tyrosine-protein kinase PRAG1 (sprot)


DRC4_HUMAN Dynein regulatory complex subunit 4 (sprot)


IP6K1_HUMAN Inositol hexakisphosphate kinase 1 (sprot)


XAGE2_HUMAN X antigen family member 2 (sprot)


CRHBP_HUMAN Corticotropin-releasing factor-binding protein (sprot)


RBM12_HUMAN RNA-binding protein 12 (sprot)


RGS13_HUMAN Regulator of G-protein signaling 13 (sprot)


ARID2_HUMAN AT-rich interactive domain-containing protein 2 (sprot)


WBP1_HUMAN WW domain-binding protein 1 (sprot)


DRB3_HUMAN HLA class II histocompatibility antigen, DR beta 3 chain (sprot)


WLS_HUMAN Protein wntless homolog (sprot)


S35D3_HUMAN Solute carrier family 35 member D3 (sprot)


CHST8_HUMAN Carbohydrate sulfotransferase 8 (sprot)


DCP2_HUMAN m7GpppN-mRNA hydrolase (sprot)


NELFA_HUMAN Negative elongation factor A (sprot)


ABCB7_HUMAN Iron-sulfur clusters transporter ABCB7, mitochondrial (sprot)


CLN5_HUMAN Ceroid-lipofuscinosis neuronal protein 5 (sprot)


ZSC31_HUMAN Zinc finger and SCAN domain-containing protein 31 (sprot)


ARHGC_HUMAN Rho guanine nucleotide exchange factor 12 (sprot)


PIGB_HUMAN GPI mannosyltransferase 3 (sprot)


FIGL1_HUMAN Fidgetin-like protein 1 (sprot)


SPT4H_HUMAN Transcription elongation factor SPT4 (sprot)


EDIL3_HUMAN EGF-like repeat and discoidin I-like domain-containing protein 3 (sprot)


MPP9_HUMAN M-phase phosphoprotein 9 (sprot)


PRPS1_HUMAN Ribose-phosphate pyrophosphokinase 1 (sprot)


UDB10_HUMAN UDP-glucuronosyltransferase 2B10 (sprot)


CXA10_HUMAN Gap junction alpha-10 protein (sprot)


GLTP_HUMAN Glycolipid transfer protein (sprot)


AP1G1_HUMAN AP-1 complex subunit gamma-1 (sprot)


CHST2_HUMAN Carbohydrate sulfotransferase 2 (sprot)


NCKP5_HUMAN Nck-associated protein 5 (sprot)


CXG1_HUMAN Gap junction gamma-1 protein (sprot)


TMM71_HUMAN Transmembrane protein 71 (sprot)


CO9_HUMAN Complement component C9 (sprot)


BCD1_HUMAN Box C/D snoRNA protein 1 (sprot)


FHR5_HUMAN Complement factor H-related protein 5 (sprot)


CNTP2_HUMAN Contactin-associated protein-like 2 (sprot)


MK07_HUMAN Mitogen-activated protein kinase 7 (sprot)


SRG2C_HUMAN SLIT-ROBO Rho GTPase-activating protein 2C (sprot)


TRBP2_HUMAN RISC-loading complex subunit TARBP2 (sprot)


GP2_HUMAN Pancreatic secretory granule membrane major glycoprotein GP2 (sprot)


GNAZ_HUMAN Guanine nucleotide-binding protein G(z) subunit alpha (sprot)


LIRA4_HUMAN Leukocyte immunoglobulin-like receptor subfamily A member 4 (sprot)


TF2H2_HUMAN General transcription factor IIH subunit 2 (sprot)


RUSD3_HUMAN Mitochondrial mRNA pseudouridine synthase RPUSD3 (sprot)


CKLF7_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 7 (sprot)


ICAM5_HUMAN Intercellular adhesion molecule 5 (sprot)


IFI6_HUMAN Interferon alpha-inducible protein 6 (sprot)


TSSK1_HUMAN Testis-specific serine/threonine-protein kinase 1 (sprot)


TGIF1_HUMAN Homeobox protein TGIF1 (sprot)


DBLOH_HUMAN Diablo IAP-binding mitochondrial protein (sprot)


PRRP_HUMAN Prolactin-releasing peptide (sprot)


HYPDH_HUMAN Hydroxyproline dehydrogenase (sprot)


PHC1_HUMAN Polyhomeotic-like protein 1 (sprot)


PPAP_HUMAN Prostatic acid phosphatase (sprot)


TBD2B_HUMAN TBC1 domain family member 2B (sprot)


ZER1_HUMAN Protein zer-1 homolog (sprot)


SGSM2_HUMAN Small G protein signaling modulator 2 (sprot)


TSPY4_HUMAN Testis-specific Y-encoded protein 4 (sprot)


PMGT1_HUMAN Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (sprot)


TTC8_HUMAN Tetratricopeptide repeat protein 8 (sprot)


TDGF3_HUMAN Putative teratocarcinoma-derived growth factor 3 (sprot)


pancreatic insulin-producing neuroendocrine tumor


PPAT_HUMAN Testicular acid phosphatase (sprot)


ARF5_HUMAN ADP-ribosylation factor 5 (sprot)


BTNL9_HUMAN Butyrophilin-like protein 9 (sprot)


PYC_HUMAN Pyruvate carboxylase, mitochondrial (sprot)


branched-chain keto acid dehydrogenase kinase deficiency


RM45_HUMAN 39S ribosomal protein L45, mitochondrial (sprot)


PYDC2_HUMAN Pyrin domain-containing protein 2 (sprot)


MIPEP_HUMAN Mitochondrial intermediate peptidase (sprot)


TMED7_HUMAN Transmembrane emp24 domain-containing protein 7 (sprot)


ANKH_HUMAN Progressive ankylosis protein homolog (sprot)


LMBL4_HUMAN Lethal(3)malignant brain tumor-like protein 4 (sprot)


CD3G_HUMAN T-cell surface glycoprotein CD3 gamma chain (sprot)


LSM3_HUMAN U6 snRNA-associated Sm-like protein LSm3 (sprot)


PR15L_HUMAN Proline-rich protein 15-like protein (sprot)


ADA2C_HUMAN Alpha-2C adrenergic receptor (sprot)


TYDP1_HUMAN Tyrosyl-DNA phosphodiesterase 1 (sprot)


PSMF1_HUMAN Proteasome inhibitor PI31 subunit (sprot)


GORAB_HUMAN RAB6-interacting golgin (sprot)


CK5P1_HUMAN Mitochondrial tRNA methylthiotransferase CDK5RAP1 (sprot)


NAA40_HUMAN N-alpha-acetyltransferase 40 (sprot)


MRP6_HUMAN ATP-binding cassette sub-family C member 6 (sprot)


PTBP1_HUMAN Polypyrimidine tract-binding protein 1 (sprot)


PAQRB_HUMAN Monocyte to macrophage differentiation factor (sprot)


ACTC_HUMAN Actin, alpha cardiac muscle 1 (sprot)


MOCS1_HUMAN Molybdenum cofactor biosynthesis protein 1 (sprot)


KI2L3_HUMAN Killer cell immunoglobulin-like receptor 2DL3 (sprot)


GPR33_HUMAN Probable G-protein coupled receptor 33 (sprot)


MBB1A_HUMAN Myb-binding protein 1A (sprot)


FUCO2_HUMAN Plasma alpha-L-fucosidase (sprot)


ULBP1_HUMAN UL16-binding protein 1 (sprot)


CEP68_HUMAN Centrosomal protein of 68 kDa (sprot)


BGAT_HUMAN Histo-blood group ABO system transferase (sprot)


CENPT_HUMAN Centromere protein T (sprot)


VDAC2_HUMAN Voltage-dependent anion-selective channel protein 2 (sprot)


PHKG2_HUMAN Phosphorylase b kinase gamma catalytic chain, liver/testis isoform (sprot)


CDK12_HUMAN Cyclin-dependent kinase 12 (sprot)


AT7L3_HUMAN Ataxin-7-like protein 3 (sprot)


PKHA2_HUMAN Pleckstrin homology domain-containing family A member 2 (sprot)


WDR1_HUMAN WD repeat-containing protein 1 (sprot)


BPL1_HUMAN Biotin--protein ligase (sprot)


COA5_HUMAN Cytochrome c oxidase assembly factor 5 (sprot)


S22AC_HUMAN Solute carrier family 22 member 12 (sprot)


HXA4_HUMAN Homeobox protein Hox-A4 (sprot)


DNJB8_HUMAN DnaJ homolog subfamily B member 8 (sprot)


IRX3_HUMAN Iroquois-class homeodomain protein IRX-3 (sprot)


GSTO1_HUMAN Glutathione S-transferase omega-1 (sprot)


NFYA_HUMAN Nuclear transcription factor Y subunit alpha (sprot)


TM168_HUMAN Transmembrane protein 168 (sprot)


CCR6_HUMAN C-C chemokine receptor type 6 (sprot)


Crouzon syndrome-acanthosis nigricans syndrome


autosomal recessive nonsyndromic hearing loss 77


TRIO_HUMAN Triple functional domain protein (sprot)


PDXD1_HUMAN Pyridoxal-dependent decarboxylase domain-containing protein 1 (sprot)


TMM88_HUMAN Transmembrane protein 88 (sprot)


SETD6_HUMAN N-lysine methyltransferase SETD6 (sprot)


CRIS2_HUMAN Cysteine-rich secretory protein 2 (sprot)


RB11B_HUMAN Ras-related protein Rab-11B (sprot)


DEGS2_HUMAN Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2 (sprot)


SCNBA_HUMAN Sodium channel protein type 11 subunit alpha (sprot)


TNR19_HUMAN Tumor necrosis factor receptor superfamily member 19 (sprot)


S39A1_HUMAN Zinc transporter ZIP1 (sprot)


RAB43_HUMAN Ras-related protein Rab-43 (sprot)


H2BWT_HUMAN Histone H2B type W-T (sprot)


DPPA3_HUMAN Developmental pluripotency-associated protein 3 (sprot)


PMF1_HUMAN Polyamine-modulated factor 1 (sprot)


autoimmune disorder of peripheral nervous system


ERCC1_HUMAN DNA excision repair protein ERCC-1 (sprot)


DEN2D_HUMAN DENN domain-containing protein 2D (sprot)


DOT1L_HUMAN Histone-lysine N-methyltransferase, H3 lysine-79 specific (sprot)


ARPC2_HUMAN Actin-related protein 2/3 complex subunit 2 (sprot)


TRI52_HUMAN E3 ubiquitin-protein ligase TRIM52 (sprot)


VRK3_HUMAN Inactive serine/threonine-protein kinase VRK3 (sprot)


HM13_HUMAN Minor histocompatibility antigen H13 (sprot)


S35G2_HUMAN Solute carrier family 35 member G2 (sprot)


IPKB_HUMAN cAMP-dependent protein kinase inhibitor beta (sprot)


TAL2_HUMAN T-cell acute lymphocytic leukemia protein 2 (sprot)


GPR6_HUMAN G-protein coupled receptor 6 (sprot)


CHP1_HUMAN Calcineurin B homologous protein 1 (sprot)


CFA43_HUMAN Cilia- and flagella-associated protein 43 (sprot)


TNIP3_HUMAN TNFAIP3-interacting protein 3 (sprot)


SYIC_HUMAN Isoleucine--tRNA ligase, cytoplasmic (sprot)


ELOV2_HUMAN Elongation of very long chain fatty acids protein 2 (sprot)


ZN304_HUMAN Zinc finger protein 304 (sprot)


urinary bladder small cell neuroendocrine carcinoma


CNOT9_HUMAN CCR4-NOT transcription complex subunit 9 (sprot)


PK1L2_HUMAN Polycystic kidney disease protein 1-like 2 (sprot)


RFOX1_HUMAN RNA binding protein fox-1 homolog 1 (sprot)


ABCG1_HUMAN ATP-binding cassette sub-family G member 1 (sprot)


NSD3_HUMAN Histone-lysine N-methyltransferase NSD3 (sprot)


TMM43_HUMAN Transmembrane protein 43 (sprot)


TF2H1_HUMAN General transcription factor IIH subunit 1 (sprot)


PSB3_HUMAN Proteasome subunit beta type-3 (sprot)


TIG1_HUMAN Retinoic acid receptor responder protein 1 (sprot)


THBG_HUMAN Thyroxine-binding globulin (sprot)


AGRG1_HUMAN Adhesion G-protein coupled receptor G1 (sprot)


ANM7_HUMAN Protein arginine N-methyltransferase 7 (sprot)


GALT4_HUMAN Polypeptide N-acetylgalactosaminyltransferase 4 (sprot)


PARP3_HUMAN Protein mono-ADP-ribosyltransferase PARP3 (sprot)


FAF2_HUMAN FAS-associated factor 2 (sprot)


KANL1_HUMAN KAT8 regulatory NSL complex subunit 1 (sprot)


PRS6A_HUMAN 26S proteasome regulatory subunit 6A (sprot)


LYRM2_HUMAN LYR motif-containing protein 2 (sprot)


NR2C1_HUMAN Nuclear receptor subfamily 2 group C member 1 (sprot)


RA54B_HUMAN DNA repair and recombination protein RAD54B (sprot)


ACY3_HUMAN N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) (sprot)


KDM5A_HUMAN Lysine-specific demethylase 5A (sprot)


KMT5B_HUMAN Histone-lysine N-methyltransferase KMT5B (sprot)


FBW1B_HUMAN F-box/WD repeat-containing protein 11 (sprot)


DCX_HUMAN Neuronal migration protein doublecortin (sprot)


CSN8_HUMAN COP9 signalosome complex subunit 8 (sprot)


ZN121_HUMAN Zinc finger protein 121 (sprot)


RPP21_HUMAN Ribonuclease P protein subunit p21 (sprot)


GPC6A_HUMAN G-protein coupled receptor family C group 6 member A (sprot)


SNAG_HUMAN Gamma-soluble NSF attachment protein (sprot)


PR40A_HUMAN Pre-mRNA-processing factor 40 homolog A (sprot)


ZDH13_HUMAN Palmitoyltransferase ZDHHC13 (sprot)


S6A13_HUMAN Sodium- and chloride-dependent GABA transporter 2 (sprot)


FIBIN_HUMAN Fin bud initiation factor homolog (sprot)


ADPPT_HUMAN L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (sprot)


PP1B_HUMAN Serine/threonine-protein phosphatase PP1-beta catalytic subunit (sprot)


RDH11_HUMAN Retinol dehydrogenase 11 (sprot)


RSMB_HUMAN Small nuclear ribonucleoprotein-associated proteins B and B' (sprot)


MAT1_HUMAN CDK-activating kinase assembly factor MAT1 (sprot)


autosomal recessive congenital ichthyosis 2


BORG1_HUMAN Cdc42 effector protein 2 (sprot)


ZN277_HUMAN Zinc finger protein 277 (sprot)


TM230_HUMAN Transmembrane protein 230 (sprot)


SF3B1_HUMAN Splicing factor 3B subunit 1 (sprot)


AIF1L_HUMAN Allograft inflammatory factor 1-like (sprot)


FHAD1_HUMAN Forkhead-associated domain-containing protein 1 (sprot)


UHRF2_HUMAN E3 ubiquitin-protein ligase UHRF2 (sprot)


OSBL9_HUMAN Oxysterol-binding protein-related protein 9 (sprot)


ACACA_HUMAN Acetyl-CoA carboxylase 1 (sprot)


CNNM1_HUMAN Metal transporter CNNM1 (sprot)


UCP5_HUMAN Brain mitochondrial carrier protein 1 (sprot)


PRD13_HUMAN PR domain zinc finger protein 13 (sprot)


KTI12_HUMAN Protein KTI12 homolog (sprot)


SPR2E_HUMAN Small proline-rich protein 2E (sprot)


GFRA2_HUMAN GDNF family receptor alpha-2 (sprot)


SMRD1_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 (sprot)


MANEA_HUMAN Glycoprotein endo-alpha-1,2-mannosidase (sprot)


prolactin-producing pituitary gland adenoma


IL2RA_HUMAN Interleukin-2 receptor subunit alpha (sprot)


glycogen storage disease type 1 due to SLC37A4 mutation


UBR4_HUMAN E3 ubiquitin-protein ligase UBR4 (sprot)


MBOA7_HUMAN Lysophospholipid acyltransferase 7 (sprot)


PCDGA_HUMAN Protocadherin gamma-A10 (sprot)


RGS18_HUMAN Regulator of G-protein signaling 18 (sprot)


RAB2B_HUMAN Ras-related protein Rab-2B (sprot)


KAP0_HUMAN cAMP-dependent protein kinase type I-alpha regulatory subunit (sprot)


TAAR5_HUMAN Trace amine-associated receptor 5 (sprot)


PUSL1_HUMAN tRNA pseudouridine synthase-like 1 (sprot)


SHOX_HUMAN Short stature homeobox protein (sprot)


PP4C_HUMAN Serine/threonine-protein phosphatase 4 catalytic subunit (sprot)


ZN593_HUMAN Zinc finger protein 593 (sprot)


PAK4_HUMAN Serine/threonine-protein kinase PAK 4 (sprot)


PGK1_HUMAN Phosphoglycerate kinase 1 (sprot)


MEST_HUMAN Mesoderm-specific transcript homolog protein (sprot)


COMP_HUMAN Cartilage oligomeric matrix protein (sprot)


UBS3A_HUMAN Ubiquitin-associated and SH3 domain-containing protein A (sprot)


MTRR_HUMAN Methionine synthase reductase (sprot)


SNW1_HUMAN SNW domain-containing protein 1 (sprot)


GSC2_HUMAN Homeobox protein goosecoid-2 (sprot)


BTBD1_HUMAN BTB/POZ domain-containing protein 1 (sprot)


AKNA_HUMAN Microtubule organization protein AKNA (sprot)


HXB9_HUMAN Homeobox protein Hox-B9 (sprot)


TMPSD_HUMAN Transmembrane protease serine 13 (sprot)


KLF12_HUMAN Krueppel-like factor 12 (sprot)


TNF6B_HUMAN Tumor necrosis factor receptor superfamily member 6B (sprot)


mucoepidermoid carcinoma of parotid gland


ASZ1_HUMAN Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 (sprot)


FBRL_HUMAN rRNA 2'-O-methyltransferase fibrillarin (sprot)


DPYD_HUMAN Dihydropyrimidine dehydrogenase [NADP(+)] (sprot)


infantile neuronal ceroid lipofuscinosis


BAD_HUMAN Bcl2-associated agonist of cell death (sprot)


SIK3_HUMAN Serine/threonine-protein kinase SIK3 (sprot)


PHLP1_HUMAN PH domain leucine-rich repeat-containing protein phosphatase 1 (sprot)


DHR13_HUMAN Dehydrogenase/reductase SDR family member 13 (sprot)


FIBP_HUMAN Acidic fibroblast growth factor intracellular-binding protein (sprot)


MIA_HUMAN Melanoma-derived growth regulatory protein (sprot)


DPOE4_HUMAN DNA polymerase epsilon subunit 4 (sprot)


SODC_HUMAN Superoxide dismutase [Cu-Zn] (sprot)


VTM2L_HUMAN V-set and transmembrane domain-containing protein 2-like protein (sprot)


EAA4_HUMAN Excitatory amino acid transporter 4 (sprot)


SC24D_HUMAN Protein transport protein Sec24D (sprot)


NDUS4_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial (sprot)


SRC8_HUMAN Src substrate cortactin (sprot)


MAGA6_HUMAN Melanoma-associated antigen 6 (sprot)


SRSF3_HUMAN Serine/arginine-rich splicing factor 3 (sprot)


STIM2_HUMAN Stromal interaction molecule 2 (sprot)


F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 (sprot)


LMO3_HUMAN LIM domain only protein 3 (sprot)


MP2K7_HUMAN Dual specificity mitogen-activated protein kinase kinase 7 (sprot)


BMP6_HUMAN Bone morphogenetic protein 6 (sprot)


ABCBA_HUMAN ATP-binding cassette sub-family B member 10, mitochondrial (sprot)


TNR9_HUMAN Tumor necrosis factor receptor superfamily member 9 (sprot)


HSBP1_HUMAN Heat shock factor-binding protein 1 (sprot)


COQ3_HUMAN Ubiquinone biosynthesis O-methyltransferase, mitochondrial (sprot)


RHOJ_HUMAN Rho-related GTP-binding protein RhoJ (sprot)


NPC1_HUMAN NPC intracellular cholesterol transporter 1 (sprot)


KR412_HUMAN Keratin-associated protein 4-12 (sprot)


MAML2_HUMAN Mastermind-like protein 2 (sprot)


X-linked distal spinal muscular atrophy type 3


CP24A_HUMAN 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial (sprot)


CSDC2_HUMAN Cold shock domain-containing protein C2 (sprot)


NTAL_HUMAN Linker for activation of T-cells family member 2 (sprot)


TA2R9_HUMAN Taste receptor type 2 member 9 (sprot)


SPTC2_HUMAN Serine palmitoyltransferase 2 (sprot)


CCNE1_HUMAN G1/S-specific cyclin-E1 (sprot)


VCX3_HUMAN Variable charge X-linked protein 3 (sprot)


HSFY1_HUMAN Heat shock transcription factor, Y-linked (sprot)


VCX1_HUMAN Variable charge X-linked protein 1 (sprot)


PDE7A_HUMAN High affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A (sprot)


VPS29_HUMAN Vacuolar protein sorting-associated protein 29 (sprot)


TAF1C_HUMAN TATA box-binding protein-associated factor RNA polymerase I subunit C (sprot)


HMGB3_HUMAN High mobility group protein B3 (sprot)


grade III prostatic intraepithelial neoplasia


LYZL4_HUMAN Lysozyme-like protein 4 (sprot)


BAK_HUMAN Bcl-2 homologous antagonist/killer (sprot)


ABHD2_HUMAN Monoacylglycerol lipase ABHD2 (sprot)


MALT1_HUMAN Mucosa-associated lymphoid tissue lymphoma translocation protein 1 (sprot)


CLC4K_HUMAN C-type lectin domain family 4 member K (sprot)


MAGD4_HUMAN Melanoma-associated antigen D4 (sprot)


mandibuloacral dysplasia with type B lipodystrophy


VAPB_HUMAN Vesicle-associated membrane protein-associated protein B/C (sprot)


S1PR5_HUMAN Sphingosine 1-phosphate receptor 5 (sprot)


RET7_HUMAN Retinoid-binding protein 7 (sprot)


PLK5_HUMAN Inactive serine/threonine-protein kinase PLK5 (sprot)


ACM3_HUMAN Muscarinic acetylcholine receptor M3 (sprot)


EZH1_HUMAN Histone-lysine N-methyltransferase EZH1 (sprot)


APC1_HUMAN Anaphase-promoting complex subunit 1 (sprot)


PLS1_HUMAN Phospholipid scramblase 1 (sprot)


Alagille syndrome due to a JAG1 point mutation


BID_HUMAN BH3-interacting domain death agonist (sprot)


Ehlers-Danlos syndrome, musculocontractural type


DNJA1_HUMAN DnaJ homolog subfamily A member 1 (sprot)


WAC2C_HUMAN WASH complex subunit 2C (sprot)


HACD1_HUMAN Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 (sprot)


gaze palsy, familial horizontal, with progressive scoliosis 1


NLGNY_HUMAN Neuroligin-4, Y-linked (sprot)


SOX18_HUMAN Transcription factor SOX-18 (sprot)


KCNN3_HUMAN Small conductance calcium-activated potassium channel protein 3 (sprot)


TBX10_HUMAN T-box transcription factor TBX10 (sprot)


ATF7_HUMAN Cyclic AMP-dependent transcription factor ATF-7 (sprot)


GGYF2_HUMAN GRB10-interacting GYF protein 2 (sprot)


RWDD3_HUMAN RWD domain-containing protein 3 (sprot)


HPIP_HUMAN Host cell factor C1 regulator 1 (sprot)


EPCR_HUMAN Endothelial protein C receptor (sprot)


PSB6_HUMAN Proteasome subunit beta type-6 (sprot)


RL7A_HUMAN 60S ribosomal protein L7a (sprot)


KCNA3_HUMAN Potassium voltage-gated channel subfamily A member 3 (sprot)


TBCE_HUMAN Tubulin-specific chaperone E (sprot)


GNAT3_HUMAN Guanine nucleotide-binding protein G(t) subunit alpha-3 (sprot)


DIP2C_HUMAN Disco-interacting protein 2 homolog C (sprot)


AMER1_HUMAN APC membrane recruitment protein 1 (sprot)


PPM1H_HUMAN Protein phosphatase 1H (sprot)


TR10C_HUMAN Tumor necrosis factor receptor superfamily member 10C (sprot)


ISCA1_HUMAN Iron-sulfur cluster assembly 1 homolog, mitochondrial (sprot)


RPTOR_HUMAN Regulatory-associated protein of mTOR (sprot)


RAMP1_HUMAN Receptor activity-modifying protein 1 (sprot)


DDIAS_HUMAN DNA damage-induced apoptosis suppressor protein (sprot)


ELOV4_HUMAN Elongation of very long chain fatty acids protein 4 (sprot)


TRI33_HUMAN E3 ubiquitin-protein ligase TRIM33 (sprot)


LFNG_HUMAN Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe (sprot)


UBP5_HUMAN Ubiquitin carboxyl-terminal hydrolase 5 (sprot)


DCNP1_HUMAN Dendritic cell nuclear protein 1 (sprot)


CE192_HUMAN Centrosomal protein of 192 kDa (sprot)


TRI36_HUMAN E3 ubiquitin-protein ligase TRIM36 (sprot)


TCHP_HUMAN Trichoplein keratin filament-binding protein (sprot)


RTL6_HUMAN Retrotransposon Gag-like protein 6 (sprot)


DRG1_HUMAN Developmentally-regulated GTP-binding protein 1 (sprot)


DHR11_HUMAN Dehydrogenase/reductase SDR family member 11 (sprot)


UBE2F_HUMAN NEDD8-conjugating enzyme UBE2F (sprot)


CNGA2_HUMAN Cyclic nucleotide-gated olfactory channel (sprot)


ALG8_HUMAN Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase (sprot)


SIAT9_HUMAN Lactosylceramide alpha-2,3-sialyltransferase (sprot)


FOXD3_HUMAN Forkhead box protein D3 (sprot)


MPZL3_HUMAN Myelin protein zero-like protein 3 (sprot)


SC11A_HUMAN Signal peptidase complex catalytic subunit SEC11A (sprot)


myopathy, lactic acidosis, and sideroblastic anemia 2


IL6RB_HUMAN Interleukin-6 receptor subunit beta (sprot)


secondary progressive multiple sclerosis


Epstein-Barr virus-associated malignant lymphoproliferative disorder


PUF60_HUMAN Poly(U)-binding-splicing factor PUF60 (sprot)


HNRPM_HUMAN Heterogeneous nuclear ribonucleoprotein M (sprot)


IER2_HUMAN Immediate early response gene 2 protein (sprot)


DHH_HUMAN Desert hedgehog protein (sprot)


ANC2_HUMAN Anaphase-promoting complex subunit 2 (sprot)


HNRL1_HUMAN Heterogeneous nuclear ribonucleoprotein U-like protein 1 (sprot)


KIF9_HUMAN Kinesin-like protein KIF9 (sprot)


lissencephaly with cerebellar hypoplasia type A


BCAS1_HUMAN Breast carcinoma-amplified sequence 1 (sprot)


COMDA_HUMAN COMM domain-containing protein 10 (sprot)


T184B_HUMAN Transmembrane protein 184B (sprot)


CIP1_HUMAN E3 ubiquitin-protein ligase CCNB1IP1 (sprot)


FOLH1_HUMAN Glutamate carboxypeptidase 2 (sprot)


autosomal dominant nonsyndromic hearing loss 10


KIF12_HUMAN Kinesin-like protein KIF12 (sprot)


multiple cutaneous and mucosal venous malformations


DCBD1_HUMAN Discoidin, CUB and LCCL domain-containing protein 1 (sprot)


SPAG4_HUMAN Sperm-associated antigen 4 protein (sprot)


EXOS6_HUMAN Exosome complex component MTR3 (sprot)


FCG3B_HUMAN Low affinity immunoglobulin gamma Fc region receptor III-B (sprot)


M3KCL_HUMAN MAP3K7 C-terminal-like protein (sprot)


TACC1_HUMAN Transforming acidic coiled-coil-containing protein 1 (sprot)


TIAM1_HUMAN Rho guanine nucleotide exchange factor TIAM1 (sprot)


H2B1B_HUMAN Histone H2B type 1-B (sprot)


CRTC2_HUMAN CREB-regulated transcription coactivator 2 (sprot)


TF7L2_HUMAN Transcription factor 7-like 2 (sprot)


TXND3_HUMAN Thioredoxin domain-containing protein 3 (sprot)


KPCD1_HUMAN Serine/threonine-protein kinase D1 (sprot)


PRKX_HUMAN cAMP-dependent protein kinase catalytic subunit PRKX (sprot)


autosomal dominant auditory neuropathy 1


TRPM1_HUMAN Transient receptor potential cation channel subfamily M member 1 (sprot)


LIN7A_HUMAN Protein lin-7 homolog A (sprot)


ARF1_HUMAN ADP-ribosylation factor 1 (sprot)


INSM2_HUMAN Insulinoma-associated protein 2 (sprot)


T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency


THOP1_HUMAN Thimet oligopeptidase (sprot)


NYAP2_HUMAN Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 (sprot)


T106A_HUMAN Transmembrane protein 106A (sprot)


DBND2_HUMAN Dysbindin domain-containing protein 2 (sprot)


CYYR1_HUMAN Cysteine and tyrosine-rich protein 1 (sprot)


NP1L3_HUMAN Nucleosome assembly protein 1-like 3 (sprot)


G137A_HUMAN Integral membrane protein GPR137 (sprot)


Yersinia pseudotuberculosis infectious disease


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy


TOPK_HUMAN Lymphokine-activated killer T-cell-originated protein kinase (sprot)


RASL3_HUMAN RAS protein activator like-3 (sprot)


punctate palmoplantar keratoderma type 1


RWDD1_HUMAN RWD domain-containing protein 1 (sprot)


GCYA1_HUMAN Guanylate cyclase soluble subunit alpha-1 (sprot)


DHX33_HUMAN ATP-dependent RNA helicase DHX33 (sprot)


DGKE_HUMAN Diacylglycerol kinase epsilon (sprot)


ATAT_HUMAN Alpha-tubulin N-acetyltransferase 1 (sprot)


PAOX_HUMAN Peroxisomal N(1)-acetyl-spermine/spermidine oxidase (sprot)


RLA2_HUMAN 60S acidic ribosomal protein P2 (sprot)


ATF2_HUMAN Cyclic AMP-dependent transcription factor ATF-2 (sprot)


DYH17_HUMAN Dynein axonemal heavy chain 17 (sprot)


homocystinuria without methylmalonic aciduria


FOXP2_HUMAN Forkhead box protein P2 (sprot)


BST2_HUMAN Bone marrow stromal antigen 2 (sprot)


CHPT1_HUMAN Cholinephosphotransferase 1 (sprot)


TOP2A_HUMAN DNA topoisomerase 2-alpha (sprot)


QORX_HUMAN Quinone oxidoreductase PIG3 (sprot)


ADCK1_HUMAN AarF domain-containing protein kinase 1 (sprot)


CES1P_HUMAN Putative inactive carboxylesterase 4 (sprot)


NPL_HUMAN N-acetylneuraminate lyase (sprot)


GDF3_HUMAN Growth/differentiation factor 3 (sprot)


NU3M_HUMAN NADH-ubiquinone oxidoreductase chain 3 (sprot)


GPR12_HUMAN G-protein coupled receptor 12 (sprot)


DDX3X_HUMAN ATP-dependent RNA helicase DDX3X (sprot)


PGRP1_HUMAN Peptidoglycan recognition protein 1 (sprot)


CND2_HUMAN Condensin complex subunit 2 (sprot)


multiple sclerosis, susceptibility to, 3


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4


DIM1_HUMAN Probable dimethyladenosine transferase (sprot)


TRPV6_HUMAN Transient receptor potential cation channel subfamily V member 6 (sprot)


EXOSX_HUMAN Exosome component 10 (sprot)


DCR1B_HUMAN 5' exonuclease Apollo (sprot)


DAF_HUMAN Complement decay-accelerating factor (sprot)


autosomal dominant nonsyndromic hearing loss 44


IFIX_HUMAN Pyrin and HIN domain-containing protein 1 (sprot)


ADCY4_HUMAN Adenylate cyclase type 4 (sprot)


gnb5-related intellectual disability-cardiac arrhythmia syndrome


IRAK3_HUMAN Interleukin-1 receptor-associated kinase 3 (sprot)


G6B_HUMAN Megakaryocyte and platelet inhibitory receptor G6b (sprot)


REG4_HUMAN Regenerating islet-derived protein 4 (sprot)


IL1R1_HUMAN Interleukin-1 receptor type 1 (sprot)


NDC80_HUMAN Kinetochore protein NDC80 homolog (sprot)


PED1B_HUMAN PC-esterase domain-containing protein 1B (sprot)


LIN54_HUMAN Protein lin-54 homolog (sprot)


CML2_HUMAN Chemerin-like receptor 2 (sprot)


NDUS8_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial (sprot)


ICOS_HUMAN Inducible T-cell costimulator (sprot)


SIA4C_HUMAN CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4 (sprot)


ERG_HUMAN Transcriptional regulator ERG (sprot)


I5P2_HUMAN Type II inositol 1,4,5-trisphosphate 5-phosphatase (sprot)


ANM1_HUMAN Protein arginine N-methyltransferase 1 (sprot)


DJC15_HUMAN DnaJ homolog subfamily C member 15 (sprot)


KDM4A_HUMAN Lysine-specific demethylase 4A (sprot)


NAT9_HUMAN Alpha/beta-tubulin-N-acetyltransferase 9 (sprot)


ARL4C_HUMAN ADP-ribosylation factor-like protein 4C (sprot)


COX5A_HUMAN Cytochrome c oxidase subunit 5A, mitochondrial (sprot)


BMP1_HUMAN Bone morphogenetic protein 1 (sprot)


UBP3_HUMAN Ubiquitin carboxyl-terminal hydrolase 3 (sprot)


CCL14_HUMAN C-C motif chemokine 14 (sprot)


NF2L2_HUMAN Nuclear factor erythroid 2-related factor 2 (sprot)


CNIH4_HUMAN Protein cornichon homolog 4 (sprot)


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation


HCDH_HUMAN Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial (sprot)


nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome


COT2_HUMAN COUP transcription factor 2 (sprot)


NADC_HUMAN Nicotinate-nucleotide pyrophosphorylase [carboxylating] (sprot)


DUS9_HUMAN Dual specificity protein phosphatase 9 (sprot)


HYAS2_HUMAN Hyaluronan synthase 2 (sprot)


PHF10_HUMAN PHD finger protein 10 (sprot)


PERE_HUMAN Eosinophil peroxidase (sprot)


KR111_HUMAN Keratin-associated protein 11-1 (sprot)


ISK1_HUMAN Serine protease inhibitor Kazal-type 1 (sprot)


ITBP1_HUMAN Integrin beta-1-binding protein 1 (sprot)


ATGA1_HUMAN Autophagy-related protein 101 (sprot)


AK1C3_HUMAN Aldo-keto reductase family 1 member C3 (sprot)


primary cutaneous peripheral T-cell lymphoma not otherwise specified


PTC2_HUMAN Protein patched homolog 2 (sprot)


NR0B2_HUMAN Nuclear receptor subfamily 0 group B member 2 (sprot)


HNRPQ_HUMAN Heterogeneous nuclear ribonucleoprotein Q (sprot)


SMRC2_HUMAN SWI/SNF complex subunit SMARCC2 (sprot)


colorectal diffuse large B-cell lymphoma


MO4L1_HUMAN Mortality factor 4-like protein 1 (sprot)


autoimmune lymphoproliferative syndrome type 2A


CXCL3_HUMAN C-X-C motif chemokine 3 (sprot)


RIMS3_HUMAN Regulating synaptic membrane exocytosis protein 3 (sprot)


CDK10_HUMAN Cyclin-dependent kinase 10 (sprot)


ZEB2_HUMAN Zinc finger E-box-binding homeobox 2 (sprot)


Bcl-2-binding component 3 isoform 2 (human)


ARP3B_HUMAN Actin-related protein 3B (sprot)


DNJB1_HUMAN DnaJ homolog subfamily B member 1 (sprot)


STABP_HUMAN STAM-binding protein (sprot)


CCD33_HUMAN Coiled-coil domain-containing protein 33 (sprot)


primary cutaneous diffuse large B-cell lymphoma, Leg type


long chain acyl-CoA dehydrogenase deficiency


TOX_HUMAN Thymocyte selection-associated high mobility group box protein TOX (sprot)


PKHA7_HUMAN Pleckstrin homology domain-containing family A member 7 (sprot)


NEK2_HUMAN Serine/threonine-protein kinase Nek2 (sprot)


CDO1_HUMAN Cysteine dioxygenase type 1 (sprot)


SAMD5_HUMAN Sterile alpha motif domain-containing protein 5 (sprot)


congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency


JMJD8_HUMAN JmjC domain-containing protein 8 (sprot)


RAP2C_HUMAN Ras-related protein Rap-2c (sprot)


FBLI1_HUMAN Filamin-binding LIM protein 1 (sprot)


EDC3_HUMAN Enhancer of mRNA-decapping protein 3 (sprot)


KI13A_HUMAN Kinesin-like protein KIF13A (sprot)


KLC4_HUMAN Kinesin light chain 4 (sprot)


progressive encephalomyelitis with rigidity and myoclonus


DX39A_HUMAN ATP-dependent RNA helicase DDX39A (sprot)


TCL1B_HUMAN T-cell leukemia/lymphoma protein 1B (sprot)


YLPM1_HUMAN YLP motif-containing protein 1 (sprot)


ATS20_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 20 (sprot)


KCNE5_HUMAN Potassium voltage-gated channel subfamily E regulatory beta subunit 5 (sprot)


Verticillium albo-atrum allergenic extract


I13R1_HUMAN Interleukin-13 receptor subunit alpha-1 (sprot)


KRIP1_HUMAN Putative protein KRIP1 (sprot)


ACSM5_HUMAN Acyl-coenzyme A synthetase ACSM5, mitochondrial (sprot)


SUCR1_HUMAN Succinate receptor 1 (sprot)


R51A1_HUMAN RAD51-associated protein 1 (sprot)


LRC3B_HUMAN Leucine-rich repeat-containing protein 3B (sprot)


SLIK3_HUMAN SLIT and NTRK-like protein 3 (sprot)


METL5_HUMAN rRNA N6-adenosine-methyltransferase METTL5 (sprot)


GBG7_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7 (sprot)


AGRV1_HUMAN Adhesion G-protein coupled receptor V1 (sprot)


growth delay due to insulin-like growth factor type 1 deficiency


SCN5A_HUMAN Sodium channel protein type 5 subunit alpha (sprot)


PIN1_HUMAN Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 (sprot)


P4HTM_HUMAN Transmembrane prolyl 4-hydroxylase (sprot)


UBS3B_HUMAN Ubiquitin-associated and SH3 domain-containing protein B (sprot)


ZDHC9_HUMAN Palmitoyltransferase ZDHHC9 (sprot)


SSNA1_HUMAN Microtubule nucleation factor SSNA1 (sprot)


FAKD2_HUMAN FAST kinase domain-containing protein 2, mitochondrial (sprot)


FRMD3_HUMAN FERM domain-containing protein 3 (sprot)


TRI46_HUMAN Tripartite motif-containing protein 46 (sprot)


STK4_HUMAN Serine/threonine-protein kinase 4 (sprot)


FBXL3_HUMAN F-box/LRR-repeat protein 3 (sprot)


5NT3A_HUMAN Cytosolic 5'-nucleotidase 3A (sprot)


autosomal recessive nonsyndromic hearing loss 49


GTR5_HUMAN Solute carrier family 2, facilitated glucose transporter member 5 (sprot)


PCCB_HUMAN Propionyl-CoA carboxylase beta chain, mitochondrial (sprot)


AOC3_HUMAN Membrane primary amine oxidase (sprot)


CCDC3_HUMAN Coiled-coil domain-containing protein 3 (sprot)


reversible cerebral vasoconstriction syndrome


GPAN1_HUMAN G patch domain and ankyrin repeat-containing protein 1 (sprot)


TOM20_HUMAN Mitochondrial import receptor subunit TOM20 homolog (sprot)


RHG09_HUMAN Rho GTPase-activating protein 9 (sprot)


NLRP9_HUMAN NACHT, LRR and PYD domains-containing protein 9 (sprot)


VSTM4_HUMAN V-set and transmembrane domain-containing protein 4 (sprot)


RBM7_HUMAN RNA-binding protein 7 (sprot)


LUZP6_HUMAN Leucine zipper protein 6 (sprot)


THAP5_HUMAN THAP domain-containing protein 5 (sprot)


ERBB3_HUMAN Receptor tyrosine-protein kinase erbB-3 (sprot)


RD23A_HUMAN UV excision repair protein RAD23 homolog A (sprot)


thrombocytopenia due to immune destruction


PRLHR_HUMAN Prolactin-releasing peptide receptor (sprot)


KBRS1_HUMAN NF-kappa-B inhibitor-interacting Ras-like protein 1 (sprot)


CLAP1_HUMAN CLIP-associating protein 1 (sprot)


PDZD8_HUMAN PDZ domain-containing protein 8 (sprot)


LRC8E_HUMAN Volume-regulated anion channel subunit LRRC8E (sprot)


LCN9_HUMAN Epididymal-specific lipocalin-9 (sprot)


CPPED_HUMAN Serine/threonine-protein phosphatase CPPED1 (sprot)


catecholaminergic polymorphic ventricular tachycardia 2


PSB8_HUMAN Proteasome subunit beta type-8 (sprot)


CLDN1_HUMAN Claudin domain-containing protein 1 (sprot)


AN32B_HUMAN Acidic leucine-rich nuclear phosphoprotein 32 family member B (sprot)


KDM1B_HUMAN Lysine-specific histone demethylase 2 (sprot)


O2AG1_HUMAN Olfactory receptor 2AG1 (sprot)


REN3B_HUMAN Regulator of nonsense transcripts 3B (sprot)


CD38_HUMAN ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (sprot)


RL35A_HUMAN 60S ribosomal protein L35a (sprot)


SP17_HUMAN Sperm surface protein Sp17 (sprot)


ZC11A_HUMAN Zinc finger CCCH domain-containing protein 11A (sprot)


SMAL1_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 (sprot)


DPOD2_HUMAN DNA polymerase delta subunit 2 (sprot)


RL30_HUMAN 60S ribosomal protein L30 (sprot)


SEPR_HUMAN Prolyl endopeptidase FAP (sprot)


PRS10_HUMAN 26S proteasome regulatory subunit 10B (sprot)


CDC45_HUMAN Cell division control protein 45 homolog (sprot)


Charcot-Marie-Tooth disease X-linked recessive 4


ZY11A_HUMAN Protein zyg-11 homolog A (sprot)


RUXE_HUMAN Small nuclear ribonucleoprotein E (sprot)


GBB3_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 (sprot)


SE1L3_HUMAN Protein sel-1 homolog 3 (sprot)


NDF1_HUMAN Neurogenic differentiation factor 1 (sprot)


GDE1_HUMAN Glycerophosphodiester phosphodiesterase 1 (sprot)


PJA1_HUMAN E3 ubiquitin-protein ligase Praja-1 (sprot)


DRD3_HUMAN D(3) dopamine receptor (sprot)


ADA29_HUMAN Disintegrin and metalloproteinase domain-containing protein 29 (sprot)


ADCY3_HUMAN Adenylate cyclase type 3 (sprot)


GTPB6_HUMAN Putative GTP-binding protein 6 (sprot)


3-(3,5-Dimethoxyphenyl)-2-(4-(4-(2,4-dioxothiazolidin-5-ylmethyl)-phenoxy)-phenyl)-acrylic acid methyl ester


GFRA3_HUMAN GDNF family receptor alpha-3 (sprot)


NT2NA_HUMAN Notch homolog 2 N-terminal-like protein A (sprot)


ZMY11_HUMAN Zinc finger MYND domain-containing protein 11 (sprot)


HXC13_HUMAN Homeobox protein Hox-C13 (sprot)


TYRO3_HUMAN Tyrosine-protein kinase receptor TYRO3 (sprot)


arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome


CTBP2_HUMAN C-terminal-binding protein 2 (sprot)


LMNA-related cardiocutaneous progeria syndrome


VPS45_HUMAN Vacuolar protein sorting-associated protein 45 (sprot)


ADT3_HUMAN ADP/ATP translocase 3 (sprot)


familial acute necrotizing encephalopathy


ZFP3_HUMAN Zinc finger protein 3 homolog (sprot)


VA0E2_HUMAN V-type proton ATPase subunit e 2 (sprot)


ODPX_HUMAN Pyruvate dehydrogenase protein X component, mitochondrial (sprot)


porcine reproductive and respiratory syndrome


CCD80_HUMAN Coiled-coil domain-containing protein 80 (sprot)


PO4F2_HUMAN POU domain, class 4, transcription factor 2 (sprot)


FFAR2_HUMAN Free fatty acid receptor 2 (sprot)


ITFG2_HUMAN KICSTOR complex protein ITFG2 (sprot)


TSYL2_HUMAN Testis-specific Y-encoded-like protein 2 (sprot)


SC5AB_HUMAN Sodium/myo-inositol cotransporter 2 (sprot)


progressive bifocal chorioretinal atrophy


SHCBP_HUMAN SHC SH2 domain-binding protein 1 (sprot)


Autosomal dominant epilepsy with auditory features


UBR7_HUMAN Putative E3 ubiquitin-protein ligase UBR7 (sprot)


PHF20_HUMAN PHD finger protein 20 (sprot)


peroxisome biogenesis disorder 1A (Zellweger)


PPID_HUMAN Peptidyl-prolyl cis-trans isomerase D (sprot)


EM55_HUMAN 55 kDa erythrocyte membrane protein (sprot)


HNRPD_HUMAN Heterogeneous nuclear ribonucleoprotein D0 (sprot)


MBOA1_HUMAN Lysophospholipid acyltransferase 1 (sprot)


PHLA3_HUMAN Pleckstrin homology-like domain family A member 3 (sprot)


OSBL5_HUMAN Oxysterol-binding protein-related protein 5 (sprot)


IRF1_HUMAN Interferon regulatory factor 1 (sprot)


UN93B_HUMAN Protein unc-93 homolog B1 (sprot)


DX39B_HUMAN Spliceosome RNA helicase DDX39B (sprot)


TRAK1_HUMAN Trafficking kinesin-binding protein 1 (sprot)


HVCN1_HUMAN Voltage-gated hydrogen channel 1 (sprot)


TTC3_HUMAN E3 ubiquitin-protein ligase TTC3 (sprot)


BT2A1_HUMAN Butyrophilin subfamily 2 member A1 (sprot)


C1QL3_HUMAN Complement C1q-like protein 3 (sprot)


PRP39_HUMAN Pre-mRNA-processing factor 39 (sprot)


TPPC1_HUMAN Trafficking protein particle complex subunit 1 (sprot)


LMBR1_HUMAN Limb region 1 protein homolog (sprot)


MEIS1_HUMAN Homeobox protein Meis1 (sprot)


HMX3_HUMAN Homeobox protein HMX3 (sprot)


FACE2_HUMAN CAAX prenyl protease 2 (sprot)


GNL3L_HUMAN Guanine nucleotide-binding protein-like 3-like protein (sprot)


DBF4B_HUMAN Protein DBF4 homolog B (sprot)


LRCH4_HUMAN Leucine-rich repeat and calponin homology domain-containing protein 4 (sprot)


inborn disorder of amino acid metabolism


IKBZ_HUMAN NF-kappa-B inhibitor zeta (sprot)


MABP1_HUMAN Mitogen-activated protein kinase-binding protein 1 (sprot)


HHATL_HUMAN Protein-cysteine N-palmitoyltransferase HHAT-like protein (sprot)


DPS1_HUMAN All trans-polyprenyl-diphosphate synthase PDSS1 (sprot)


SIGL5_HUMAN Sialic acid-binding Ig-like lectin 5 (sprot)


OR2D2_HUMAN Olfactory receptor 2D2 (sprot)


KPTN_HUMAN KICSTOR complex protein kaptin (sprot)


HS12A_HUMAN Heat shock 70 kDa protein 12A (sprot)


MON1A_HUMAN Vacuolar fusion protein MON1 homolog A (sprot)


STAR9_HUMAN StAR-related lipid transfer protein 9 (sprot)


acute encephalopathy with biphasic seizures and late reduced diffusion


COMT_HUMAN Catechol O-methyltransferase (sprot)


QOR_HUMAN Quinone oxidoreductase (sprot)


ACHB2_HUMAN Neuronal acetylcholine receptor subunit beta-2 (sprot)


CHST4_HUMAN Carbohydrate sulfotransferase 4 (sprot)


congenital anomalies of kidney and urinary tract 2


P66A_HUMAN Transcriptional repressor p66-alpha (sprot)


BCAS3_HUMAN BCAS3 microtubule associated cell migration factor (sprot)


TBX21_HUMAN T-box transcription factor TBX21 (sprot)


SLAF5_HUMAN SLAM family member 5 (sprot)


PLK1_HUMAN Serine/threonine-protein kinase PLK1 (sprot)


PTPRZ_HUMAN Receptor-type tyrosine-protein phosphatase zeta (sprot)


PPRC1_HUMAN Peroxisome proliferator-activated receptor gamma coactivator-related protein 1 (sprot)


EYA3_HUMAN Eyes absent homolog 3 (sprot)


MS4A3_HUMAN Membrane-spanning 4-domains subfamily A member 3 (sprot)


S22A1_HUMAN Solute carrier family 22 member 1 (sprot)


JUNB_HUMAN Transcription factor JunB (sprot)


GALR3_HUMAN Galanin receptor type 3 (sprot)


BDNF_HUMAN Brain-derived neurotrophic factor (sprot)


B4GN1_HUMAN Beta-1,4 N-acetylgalactosaminyltransferase 1 (sprot)


SPSB4_HUMAN SPRY domain-containing SOCS box protein 4 (sprot)


FA2H_HUMAN Fatty acid 2-hydroxylase (sprot)


MIA40_HUMAN Mitochondrial intermembrane space import and assembly protein 40 (sprot)


CX6A1_HUMAN Cytochrome c oxidase subunit 6A1, mitochondrial (sprot)


TDRD6_HUMAN Tudor domain-containing protein 6 (sprot)


ODO1_HUMAN 2-oxoglutarate dehydrogenase complex component E1 (sprot)


EPCAM_HUMAN Epithelial cell adhesion molecule (sprot)


testicular non-seminomatous germ cell tumor


autosomal recessive complex spastic paraplegia


TRI72_HUMAN Tripartite motif-containing protein 72 (sprot)


M3K7_HUMAN Mitogen-activated protein kinase kinase kinase 7 (sprot)


6-Oxa-4,11,16,23-tetraaza-5-phosphatetracosane-1,3,10,15-tetracarboxylic acid, 24-(4-fluorophenyl)-5-hydroxy-12,17,24-trioxo-, 5-oxide, (3S,10S,15S)-


ELOV5_HUMAN Elongation of very long chain fatty acids protein 5 (sprot)


ERVV2_HUMAN Endogenous retrovirus group V member 2 Env polyprotein (sprot)


TPM1_HUMAN Tropomyosin alpha-1 chain (sprot)


ZN335_HUMAN Zinc finger protein 335 (sprot)


KCNB2_HUMAN Potassium voltage-gated channel subfamily B member 2 (sprot)


MEP1B_HUMAN Meprin A subunit beta (sprot)


TAOK3_HUMAN Serine/threonine-protein kinase TAO3 (sprot)


LTK_HUMAN Leukocyte tyrosine kinase receptor (sprot)


FCSD1_HUMAN F-BAR and double SH3 domains protein 1 (sprot)


TPRG1_HUMAN Tumor protein p63-regulated gene 1 protein (sprot)


GGTA1_HUMAN Inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase (sprot)


PAF15_HUMAN PCNA-associated factor (sprot)


PTSS1_HUMAN Phosphatidylserine synthase 1 (sprot)


EID2B_HUMAN EP300-interacting inhibitor of differentiation 2B (sprot)


squamous cell carcinoma of the corpus uteri


STK26_HUMAN Serine/threonine-protein kinase 26 (sprot)


AGR2_HUMAN Anterior gradient protein 2 homolog (sprot)


CREB3_HUMAN Cyclic AMP-responsive element-binding protein 3 (sprot)


PITX1_HUMAN Pituitary homeobox 1 (sprot)


ZNF84_HUMAN Zinc finger protein 84 (sprot)


NAR5_HUMAN Ecto-ADP-ribosyltransferase 5 (sprot)


SMS2_HUMAN Phosphatidylcholine:ceramide cholinephosphotransferase 2 (sprot)


CY561_HUMAN Transmembrane ascorbate-dependent reductase CYB561 (sprot)


HXA2_HUMAN Homeobox protein Hox-A2 (sprot)


RT16_HUMAN 28S ribosomal protein S16, mitochondrial (sprot)


TCF20_HUMAN Transcription factor 20 (sprot)


KCJ16_HUMAN Inward rectifier potassium channel 16 (sprot)


neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade


PA1B2_HUMAN Platelet-activating factor acetylhydrolase IB subunit alpha2 (sprot)


ATRAP_HUMAN Type-1 angiotensin II receptor-associated protein (sprot)


RAP1B_HUMAN Ras-related protein Rap-1b (sprot)


CAC1G_HUMAN Voltage-dependent T-type calcium channel subunit alpha-1G (sprot)


TDRD1_HUMAN Tudor domain-containing protein 1 (sprot)


LSAMP_HUMAN Limbic system-associated membrane protein (sprot)


punctate palmoplantar keratoderma type 2


PEX10_HUMAN Peroxisome biogenesis factor 10 (sprot)


E41L5_HUMAN Band 4.1-like protein 5 (sprot)


GPR27_HUMAN Probable G-protein coupled receptor 27 (sprot)


CLC2D_HUMAN C-type lectin domain family 2 member D (sprot)


CEBPD_HUMAN CCAAT/enhancer-binding protein delta (sprot)


TET2_HUMAN Methylcytosine dioxygenase TET2 (sprot)


PITX3_HUMAN Pituitary homeobox 3 (sprot)


DDX5_HUMAN Probable ATP-dependent RNA helicase DDX5 (sprot)


FIBB_HUMAN Fibrinogen beta chain (sprot)


GPHA2_HUMAN Glycoprotein hormone alpha-2 (sprot)


SE6L2_HUMAN Seizure 6-like protein 2 (sprot)


ASB11_HUMAN Ankyrin repeat and SOCS box protein 11 (sprot)


ALKL2_HUMAN ALK and LTK ligand 2 (sprot)


MCRS1_HUMAN Microspherule protein 1 (sprot)


LRP12_HUMAN Low-density lipoprotein receptor-related protein 12 (sprot)


ORC4_HUMAN Origin recognition complex subunit 4 (sprot)


macular dystrophy with central cone involvement


ST1A1_HUMAN Sulfotransferase 1A1 (sprot)


CO3A1_HUMAN Collagen alpha-1(III) chain (sprot)


ISK6_HUMAN Serine protease inhibitor Kazal-type 6 (sprot)


parietal foramina with cleidocranial dysplasia


TMM47_HUMAN Transmembrane protein 47 (sprot)


TRDMT_HUMAN tRNA (cytosine(38)-C(5))-methyltransferase (sprot)


SYCP1_HUMAN Synaptonemal complex protein 1 (sprot)


PPR3B_HUMAN Protein phosphatase 1 regulatory subunit 3B (sprot)


JKIP1_HUMAN Janus kinase and microtubule-interacting protein 1 (sprot)


PKHG2_HUMAN Pleckstrin homology domain-containing family G member 2 (sprot)


PEX19_HUMAN Peroxisomal biogenesis factor 19 (sprot)


maturity-onset diabetes of the young type 1


ERC6L_HUMAN DNA excision repair protein ERCC-6-like (sprot)


CWC15_HUMAN Spliceosome-associated protein CWC15 homolog (sprot)


TRI17_HUMAN E3 ubiquitin-protein ligase TRIM17 (sprot)


C4BPB_HUMAN C4b-binding protein beta chain (sprot)


ANKR7_HUMAN Ankyrin repeat domain-containing protein 7 (sprot)


VAX2_HUMAN Ventral anterior homeobox 2 (sprot)


HPLN4_HUMAN Hyaluronan and proteoglycan link protein 4 (sprot)


EAA1_HUMAN Excitatory amino acid transporter 1 (sprot)


UNC5C_HUMAN Netrin receptor UNC5C (sprot)


FOXN4_HUMAN Forkhead box protein N4 (sprot)


IRAG2_HUMAN Inositol 1,4,5-triphosphate receptor associated 2 (sprot)


RFIP4_HUMAN Rab11 family-interacting protein 4 (sprot)


A2GL_HUMAN Leucine-rich alpha-2-glycoprotein (sprot)


RHAG_HUMAN Ammonium transporter Rh type A (sprot)


FEM1A_HUMAN Protein fem-1 homolog A (sprot)


ATX2L_HUMAN Ataxin-2-like protein (sprot)


ARMC5_HUMAN Armadillo repeat-containing protein 5 (sprot)


MAGA1_HUMAN Melanoma-associated antigen 1 (sprot)


DCA15_HUMAN DDB1- and CUL4-associated factor 15 (sprot)


PDC6I_HUMAN Programmed cell death 6-interacting protein (sprot)


EVX1_HUMAN Homeobox even-skipped homolog protein 1 (sprot)


ATR_HUMAN Serine/threonine-protein kinase ATR (sprot)


REQU_HUMAN Zinc finger protein ubi-d4 (sprot)


T255B_HUMAN Transmembrane protein 255B (sprot)


U2AFM_HUMAN U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2 (sprot)


QCR1_HUMAN Cytochrome b-c1 complex subunit 1, mitochondrial (sprot)


MCUB_HUMAN Calcium uniporter regulatory subunit MCUb, mitochondrial (sprot)


TRPV5_HUMAN Transient receptor potential cation channel subfamily V member 5 (sprot)


RA51D_HUMAN DNA repair protein RAD51 homolog 4 (sprot)


RTP2_HUMAN Receptor-transporting protein 2 (sprot)


ZN134_HUMAN Zinc finger protein 134 (sprot)


GBP7_HUMAN Guanylate-binding protein 7 (sprot)


OXR1_HUMAN Oxidation resistance protein 1 (sprot)


FRAT2_HUMAN GSK-3-binding protein FRAT2 (sprot)


TINF2_HUMAN TERF1-interacting nuclear factor 2 (sprot)


KIF4A_HUMAN Chromosome-associated kinesin KIF4A (sprot)


thyroid gland mucosa-associated lymphoid tissue lymphoma


PSB1_HUMAN Proteasome subunit beta type-1 (sprot)


GBB2_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 (sprot)


ACHA7_HUMAN Neuronal acetylcholine receptor subunit alpha-7 (sprot)


STT3B_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B (sprot)


LRC57_HUMAN Leucine-rich repeat-containing protein 57 (sprot)


PYDC1_HUMAN Pyrin domain-containing protein 1 (sprot)


MED1_HUMAN Mediator of RNA polymerase II transcription subunit 1 (sprot)


COQ8B_HUMAN Atypical kinase COQ8B, mitochondrial (sprot)


BLK_HUMAN Tyrosine-protein kinase Blk (sprot)