RL3_HUMAN 60S ribosomal protein L3 (sprot)


MAGA5_HUMAN Putative melanoma-associated antigen 5P (sprot)


POPD1_HUMAN Blood vessel epicardial substance (sprot)


SELT_HUMAN Thioredoxin reductase-like selenoprotein T (sprot)


alpha-N-acetylgalactosaminidase deficiency type 2


NCEH1_HUMAN Neutral cholesterol ester hydrolase 1 (sprot)


NAA80_HUMAN N-alpha-acetyltransferase 80 (sprot)


TXND6_HUMAN Thioredoxin domain-containing protein 6 (sprot)


BTBD9_HUMAN BTB/POZ domain-containing protein 9 (sprot)


DYH5_HUMAN Dynein axonemal heavy chain 5 (sprot)


ODFP2_HUMAN Outer dense fiber protein 2 (sprot)


PADI4_HUMAN Protein-arginine deiminase type-4 (sprot)


TBPL2_HUMAN TATA box-binding protein-like 2 (sprot)


NDK7_HUMAN Nucleoside diphosphate kinase 7 (sprot)


SNIT1_HUMAN Uncharacterized protein encoded by SND1-IT1 (sprot)


NFAC4_HUMAN Nuclear factor of activated T-cells, cytoplasmic 4 (sprot)


peripheral primitive neuroectodermal tumor


CYFP2_HUMAN Cytoplasmic FMR1-interacting protein 2 (sprot)


CHIC2_HUMAN Cysteine-rich hydrophobic domain-containing protein 2 (sprot)


GT2D1_HUMAN General transcription factor II-I repeat domain-containing protein 1 (sprot)


DAP1_HUMAN Death-associated protein 1 (sprot)


DEN2B_HUMAN DENN domain-containing protein 2B (sprot)


UN45B_HUMAN Protein unc-45 homolog B (sprot)


DPH3_HUMAN Diphthamide biosynthesis protein 3 (sprot)


hypertrichosis-acromegaloid facial appearance syndrome


GBX1_HUMAN Homeobox protein GBX-1 (sprot)


MIB1_HUMAN E3 ubiquitin-protein ligase MIB1 (sprot)


Bietti crystalline corneoretinal dystrophy


I12R1_HUMAN Interleukin-12 receptor subunit beta-1 (sprot)


S19A1_HUMAN Reduced folate transporter (sprot)


ZFY16_HUMAN Zinc finger FYVE domain-containing protein 16 (sprot)


SMYD3_HUMAN Histone-lysine N-methyltransferase SMYD3 (sprot)


microphthalmia with brain and digit anomalies


FSIP1_HUMAN Fibrous sheath-interacting protein 1 (sprot)


TM171_HUMAN Transmembrane protein 171 (sprot)


MUCL3_HUMAN Mucin-like protein 3 (sprot)


STEA1_HUMAN Metalloreductase STEAP1 (sprot)


MOT6_HUMAN Monocarboxylate transporter 6 (sprot)


I22R2_HUMAN Interleukin-22 receptor subunit alpha-2 (sprot)


IFT27_HUMAN Intraflagellar transport protein 27 homolog (sprot)


ZN214_HUMAN Zinc finger protein 214 (sprot)


BMX_HUMAN Cytoplasmic tyrosine-protein kinase BMX (sprot)


TMED5_HUMAN Transmembrane emp24 domain-containing protein 5 (sprot)


DGKQ_HUMAN Diacylglycerol kinase theta (sprot)


PSMA8_HUMAN Proteasome subunit alpha-type 8 (sprot)


GGT7_HUMAN Glutathione hydrolase 7 (sprot)


SYCE2_HUMAN Synaptonemal complex central element protein 2 (sprot)


BIP_HUMAN Endoplasmic reticulum chaperone BiP (sprot)


CEAM5_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 5 (sprot)


CBX5_HUMAN Chromobox protein homolog 5 (sprot)


MSD3_HUMAN Myb/SANT-like DNA-binding domain-containing protein 3 (sprot)


RPA34_HUMAN DNA-directed RNA polymerase I subunit RPA34 (sprot)


P20L1_HUMAN PHD finger protein 20-like protein 1 (sprot)


RPGP2_HUMAN Rap1 GTPase-activating protein 2 (sprot)


SERP1_HUMAN Stress-associated endoplasmic reticulum protein 1 (sprot)


midline interhemispheric variant of holoprosencephaly


precursor T-cell acute lymphoblastic leukemia


CDCA7_HUMAN Cell division cycle-associated protein 7 (sprot)


COX17_HUMAN Cytochrome c oxidase copper chaperone (sprot)


CCL4_HUMAN C-C motif chemokine 4 (sprot)


RS11_HUMAN 40S ribosomal protein S11 (sprot)


TF3C3_HUMAN General transcription factor 3C polypeptide 3 (sprot)


very long chain acyl-CoA dehydrogenase deficiency


STAC_HUMAN SH3 and cysteine-rich domain-containing protein (sprot)


DC2L1_HUMAN Cytoplasmic dynein 2 light intermediate chain 1 (sprot)


TNR6B_HUMAN Trinucleotide repeat-containing gene 6B protein (sprot)


PPTC7_HUMAN Protein phosphatase PTC7 homolog (sprot)


SAS10_HUMAN Something about silencing protein 10 (sprot)


TRI50_HUMAN E3 ubiquitin-protein ligase TRIM50 (sprot)


hereditary neuropathy with liability to pressure palsies


GBRE_HUMAN Gamma-aminobutyric acid receptor subunit epsilon (sprot)


ZPLD1_HUMAN Zona pellucida-like domain-containing protein 1 (sprot)


NHP2_HUMAN H/ACA ribonucleoprotein complex subunit 2 (sprot)


DCDC2_HUMAN Doublecortin domain-containing protein 2 (sprot)


IPKA_HUMAN cAMP-dependent protein kinase inhibitor alpha (sprot)


NIPA4_HUMAN Magnesium transporter NIPA4 (sprot)


PGAM5_HUMAN Serine/threonine-protein phosphatase PGAM5, mitochondrial (sprot)


RN145_HUMAN RING finger protein 145 (sprot)


familial cold autoinflammatory syndrome 3


GPHRA_HUMAN Golgi pH regulator A (sprot)


CSPG2_HUMAN Versican core protein (sprot)


INT5_HUMAN Integrator complex subunit 5 (sprot)


KLF4_HUMAN Krueppel-like factor 4 (sprot)


TMM59_HUMAN Transmembrane protein 59 (sprot)


RASA1_HUMAN Ras GTPase-activating protein 1 (sprot)


inborn disorder of pyrimidine metabolism


PUR2_HUMAN Trifunctional purine biosynthetic protein adenosine-3 (sprot)


KLDC1_HUMAN Kelch domain-containing protein 1 (sprot)


precursor B-cell acute lymphoblastic leukemia


RN212_HUMAN Probable E3 SUMO-protein ligase RNF212 (sprot)


RS3A_HUMAN 40S ribosomal protein S3a (sprot)


RN168_HUMAN E3 ubiquitin-protein ligase RNF168 (sprot)


RN123_HUMAN E3 ubiquitin-protein ligase RNF123 (sprot)


MRT4_HUMAN mRNA turnover protein 4 homolog (sprot)


combined hepatocellular carcinoma and cholangiocarcinoma


PI3R4_HUMAN Phosphoinositide 3-kinase regulatory subunit 4 (sprot)


PEN2_HUMAN Gamma-secretase subunit PEN-2 (sprot)


IZUM4_HUMAN Izumo sperm-egg fusion protein 4 (sprot)


TNC18_HUMAN Trinucleotide repeat-containing gene 18 protein (sprot)


AL3B1_HUMAN Aldehyde dehydrogenase family 3 member B1 (sprot)


MYDGF_HUMAN Myeloid-derived growth factor (sprot)


CDR1_HUMAN Cerebellar degeneration-related antigen 1 (sprot)


C1D_HUMAN Nuclear nucleic acid-binding protein C1D (sprot)


LSM11_HUMAN U7 snRNA-associated Sm-like protein LSm11 (sprot)


TNF15_HUMAN Tumor necrosis factor ligand superfamily member 15 (sprot)


T4S4_HUMAN Transmembrane 4 L6 family member 4 (sprot)


LCE1D_HUMAN Late cornified envelope protein 1D (sprot)


CNDD3_HUMAN Condensin-2 complex subunit D3 (sprot)


PRR15_HUMAN Proline-rich protein 15 (sprot)


5HT1D_HUMAN 5-hydroxytryptamine receptor 1D (sprot)


NKX31_HUMAN Homeobox protein Nkx-3.1 (sprot)


SPAG1_HUMAN Sperm-associated antigen 1 (sprot)


TGT_HUMAN Queuine tRNA-ribosyltransferase catalytic subunit 1 (sprot)


RHXF2_HUMAN Rhox homeobox family member 2 (sprot)


RBMS2_HUMAN RNA-binding motif, single-stranded-interacting protein 2 (sprot)


FOXL2_HUMAN Forkhead box protein L2 (sprot)


SPRE2_HUMAN Sprouty-related, EVH1 domain-containing protein 2 (sprot)


KCNB1_HUMAN Potassium voltage-gated channel subfamily B member 1 (sprot)


CGRE1_HUMAN Cell growth regulator with EF hand domain protein 1 (sprot)


X-linked intellectual disability-macrocephaly-macroorchidism syndrome


CPED1_HUMAN Cadherin-like and PC-esterase domain-containing protein 1 (sprot)


EGLN3_HUMAN Prolyl hydroxylase EGLN3 (sprot)


TPP1_HUMAN Tripeptidyl-peptidase 1 (sprot)


SCN4A_HUMAN Sodium channel protein type 4 subunit alpha (sprot)


C1QT8_HUMAN Complement C1q tumor necrosis factor-related protein 8 (sprot)


ZHX1_HUMAN Zinc fingers and homeoboxes protein 1 (sprot)


SPNXB_HUMAN Sperm protein associated with the nucleus on the X chromosome B1 (sprot)


LYST_HUMAN Lysosomal-trafficking regulator (sprot)


IMPA3_HUMAN Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase (sprot)


ZNF85_HUMAN Zinc finger protein 85 (sprot)


IFT56_HUMAN Intraflagellar transport protein 56 (sprot)


SETD3_HUMAN Actin-histidine N-methyltransferase (sprot)


CUED2_HUMAN CUE domain-containing protein 2 (sprot)


MTEF3_HUMAN Transcription termination factor 3, mitochondrial (sprot)


MRC2_HUMAN C-type mannose receptor 2 (sprot)


CHM1A_HUMAN Charged multivesicular body protein 1a (sprot)


ZFAN1_HUMAN AN1-type zinc finger protein 1 (sprot)


CACL1_HUMAN CDK2-associated and cullin domain-containing protein 1 (sprot)


NRN1L_HUMAN Neuritin-like protein (sprot)


ABC3F_HUMAN DNA dC->dU-editing enzyme APOBEC-3F (sprot)


HPGDS_HUMAN Hematopoietic prostaglandin D synthase (sprot)


ABCF3_HUMAN ATP-binding cassette sub-family F member 3 (sprot)


ZN609_HUMAN Zinc finger protein 609 (sprot)


MP2K3_HUMAN Dual specificity mitogen-activated protein kinase kinase 3 (sprot)


BTLA_HUMAN B- and T-lymphocyte attenuator (sprot)


ACD11_HUMAN Acyl-CoA dehydrogenase family member 11 (sprot)


GP182_HUMAN G-protein coupled receptor 182 (sprot)


ACER3_HUMAN Alkaline ceramidase 3 (sprot)


TTC29_HUMAN Tetratricopeptide repeat protein 29 (sprot)


UBL3_HUMAN Ubiquitin-like protein 3 (sprot)


SYWC_HUMAN Tryptophan--tRNA ligase, cytoplasmic (sprot)


E2F7_HUMAN Transcription factor E2F7 (sprot)


PRR11_HUMAN Proline-rich protein 11 (sprot)


RET4_HUMAN Retinol-binding protein 4 (sprot)


SC23B_HUMAN Protein transport protein Sec23B (sprot)


MFSD3_HUMAN Major facilitator superfamily domain-containing protein 3 (sprot)


GT253_HUMAN Inactive glycosyltransferase 25 family member 3 (sprot)


GP183_HUMAN G-protein coupled receptor 183 (sprot)


ASCC2_HUMAN Activating signal cointegrator 1 complex subunit 2 (sprot)


ZN202_HUMAN Zinc finger protein 202 (sprot)


NUB1_HUMAN NEDD8 ultimate buster 1 (sprot)


PLK2_HUMAN Serine/threonine-protein kinase PLK2 (sprot)


KCC2D_HUMAN Calcium/calmodulin-dependent protein kinase type II subunit delta (sprot)


SYTC2_HUMAN Threonine--tRNA ligase 2, cytoplasmic (sprot)


MMP28_HUMAN Matrix metalloproteinase-28 (sprot)


GPR83_HUMAN G-protein coupled receptor 83 (sprot)


MBOA4_HUMAN Ghrelin O-acyltransferase (sprot)


LHX3_HUMAN LIM/homeobox protein Lhx3 (sprot)


MPEG1_HUMAN Macrophage-expressed gene 1 protein (sprot)


ZN740_HUMAN Zinc finger protein 740 (sprot)


GHITM_HUMAN Growth hormone-inducible transmembrane protein (sprot)


DYL1_HUMAN Dynein light chain 1, cytoplasmic (sprot)


S2539_HUMAN Probable mitochondrial glutathione transporter SLC25A39 (sprot)


SGTB_HUMAN Small glutamine-rich tetratricopeptide repeat-containing protein beta (sprot)


NAT14_HUMAN Probable N-acetyltransferase 14 (sprot)


maternal uniparental disomy of chromosome 16


PLCB_HUMAN 1-acyl-sn-glycerol-3-phosphate acyltransferase beta (sprot)


K2C6C_HUMAN Keratin, type II cytoskeletal 6C (sprot)


TMM33_HUMAN Transmembrane protein 33 (sprot)


ERLEC_HUMAN Endoplasmic reticulum lectin 1 (sprot)


ASCL5_HUMAN Achaete-scute homolog 5 (sprot)


RHG32_HUMAN Rho GTPase-activating protein 32 (sprot)


NS1BP_HUMAN Influenza virus NS1A-binding protein (sprot)


RGL1_HUMAN Ral guanine nucleotide dissociation stimulator-like 1 (sprot)


DONS_HUMAN Protein downstream neighbor of Son (sprot)


NR2E1_HUMAN Nuclear receptor subfamily 2 group E member 1 (sprot)


generalized epilepsy with febrile seizures plus, type 1


LY6E_HUMAN Lymphocyte antigen 6E (sprot)


SRP19_HUMAN Signal recognition particle 19 kDa protein (sprot)


PATL1_HUMAN Protein PAT1 homolog 1 (sprot)


ARL4A_HUMAN ADP-ribosylation factor-like protein 4A (sprot)


DIAP3_HUMAN Protein diaphanous homolog 3 (sprot)


HS74L_HUMAN Heat shock 70 kDa protein 4L (sprot)


HSF5_HUMAN Heat shock factor protein 5 (sprot)


IMA3_HUMAN Importin subunit alpha-3 (sprot)


TAM41_HUMAN Phosphatidate cytidylyltransferase, mitochondrial (sprot)


CDIPT_HUMAN CDP-diacylglycerol--inositol 3-phosphatidyltransferase (sprot)


congenital fibrosis of extraocular muscles


RSPH1_HUMAN Radial spoke head 1 homolog (sprot)


hereditary diffuse gastric adenocarcinoma


SMAG2_HUMAN Protein Smaug homolog 2 (sprot)


LRC32_HUMAN Transforming growth factor beta activator LRRC32 (sprot)


PP1RA_HUMAN Serine/threonine-protein phosphatase 1 regulatory subunit 10 (sprot)


NDKA_HUMAN Nucleoside diphosphate kinase A (sprot)


ALG9_HUMAN Alpha-1,2-mannosyltransferase ALG9 (sprot)


ARBK1_HUMAN Beta-adrenergic receptor kinase 1 (sprot)


SMCA2_HUMAN Probable global transcription activator SNF2L2 (sprot)


isolated growth hormone deficiency type IA


MK03_HUMAN Mitogen-activated protein kinase 3 (sprot)


AT8B4_HUMAN Probable phospholipid-transporting ATPase IM (sprot)


TNR25_HUMAN Tumor necrosis factor receptor superfamily member 25 (sprot)


SP5_HUMAN Transcription factor Sp5 (sprot)


TM45A_HUMAN Transmembrane protein 45A (sprot)


NCKX4_HUMAN Sodium/potassium/calcium exchanger 4 (sprot)


TDIF1_HUMAN Deoxynucleotidyltransferase terminal-interacting protein 1 (sprot)


RHES_HUMAN GTP-binding protein Rhes (sprot)


RNH2A_HUMAN Ribonuclease H2 subunit A (sprot)


TRI31_HUMAN E3 ubiquitin-protein ligase TRIM31 (sprot)


GALT7_HUMAN N-acetylgalactosaminyltransferase 7 (sprot)


mesial temporal lobe epilepsy with hippocampal sclerosis


posttransplant acute limbic encephalitis


OTX1_HUMAN Homeobox protein OTX1 (sprot)


squamous cell carcinoma of floor of mouth


CP11A_HUMAN Cholesterol side-chain cleavage enzyme, mitochondrial (sprot)


PKDCC_HUMAN Extracellular tyrosine-protein kinase PKDCC (sprot)


WDR41_HUMAN WD repeat-containing protein 41 (sprot)


KRT36_HUMAN Keratin, type I cuticular Ha6 (sprot)


varicella-zoster virus vaccine live (Oka-Merck) strain


DOC2B_HUMAN Double C2-like domain-containing protein beta (sprot)


SSRP1_HUMAN FACT complex subunit SSRP1 (sprot)


SELB_HUMAN Selenocysteine-specific elongation factor (sprot)


RM48_HUMAN 39S ribosomal protein L48, mitochondrial (sprot)


G3ST2_HUMAN Galactose-3-O-sulfotransferase 2 (sprot)


OR4E1_HUMAN Olfactory receptor 4E1 (sprot)


frontotemporal dementia and/or amyotrophic lateral sclerosis 6


CAMP1_HUMAN Calmodulin-regulated spectrin-associated protein 1 (sprot)


LY9_HUMAN T-lymphocyte surface antigen Ly-9 (sprot)


GVIN1_HUMAN Interferon-induced very large GTPase 1 (sprot)


TTC36_HUMAN Tetratricopeptide repeat protein 36 (sprot)


MGN2_HUMAN Protein mago nashi homolog 2 (sprot)


GNA13_HUMAN Guanine nucleotide-binding protein subunit alpha-13 (sprot)


EIF3E_HUMAN Eukaryotic translation initiation factor 3 subunit E (sprot)


SEPT3_HUMAN Neuronal-specific septin-3 (sprot)


DJB14_HUMAN DnaJ homolog subfamily B member 14 (sprot)


IMP3_HUMAN U3 small nucleolar ribonucleoprotein protein IMP3 (sprot)


HXA3_HUMAN Homeobox protein Hox-A3 (sprot)


diffuse infiltrative lymphocytosis syndrome


EGR4_HUMAN Early growth response protein 4 (sprot)


ZDH14_HUMAN Palmitoyltransferase ZDHHC14 (sprot)


cystic leukoencephalopathy without megalencephaly


PKHA6_HUMAN Pleckstrin homology domain-containing family A member 6 (sprot)


RL37_HUMAN 60S ribosomal protein L37 (sprot)


UBP44_HUMAN Ubiquitin carboxyl-terminal hydrolase 44 (sprot)


neuroendocrine tumor of rectum, well differentiated, low or intermediate grade


PTN20_HUMAN Tyrosine-protein phosphatase non-receptor type 20 (sprot)


RL18_HUMAN 60S ribosomal protein L18 (sprot)


PANKY_HUMAN Photoreceptor ankyrin repeat protein (sprot)


XYLT2_HUMAN Xylosyltransferase 2 (sprot)


NDUB4_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 (sprot)


NEK8_HUMAN Serine/threonine-protein kinase Nek8 (sprot)


ZKSC5_HUMAN Zinc finger protein with KRAB and SCAN domains 5 (sprot)


DIP2B_HUMAN Disco-interacting protein 2 homolog B (sprot)


CRIP3_HUMAN Cysteine-rich protein 3 (sprot)


DGKK_HUMAN Diacylglycerol kinase kappa (sprot)


MD2L2_HUMAN Mitotic spindle assembly checkpoint protein MAD2B (sprot)


SQOR_HUMAN Sulfide:quinone oxidoreductase, mitochondrial (sprot)


UB2E2_HUMAN Ubiquitin-conjugating enzyme E2 E2 (sprot)


ARPC4_HUMAN Actin-related protein 2/3 complex subunit 4 (sprot)


PHAR3_HUMAN Phosphatase and actin regulator 3 (sprot)


ACAD9_HUMAN Complex I assembly factor ACAD9, mitochondrial (sprot)


RPIA_HUMAN Ribose-5-phosphate isomerase (sprot)


CQ10B_HUMAN Coenzyme Q-binding protein COQ10 homolog B, mitochondrial (sprot)


ELK1_HUMAN ETS domain-containing protein Elk-1 (sprot)


K1C25_HUMAN Keratin, type I cytoskeletal 25 (sprot)


CP343_HUMAN Cytochrome P450 3A43 (sprot)


CK5P2_HUMAN CDK5 regulatory subunit-associated protein 2 (sprot)


FKB1B_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP1B (sprot)


cladosporium sphaerospermum allergenic extract


FSIP2_HUMAN Fibrous sheath-interacting protein 2 (sprot)


GOSR1_HUMAN Golgi SNAP receptor complex member 1 (sprot)


DPYL5_HUMAN Dihydropyrimidinase-related protein 5 (sprot)


M2OM_HUMAN Mitochondrial 2-oxoglutarate/malate carrier protein (sprot)


GRP3_HUMAN Ras guanyl-releasing protein 3 (sprot)


trichorhinophalangeal syndrome, type III


RAB2A_HUMAN Ras-related protein Rab-2A (sprot)


CTL4_HUMAN Choline transporter-like protein 4 (sprot)


PARP9_HUMAN Protein mono-ADP-ribosyltransferase PARP9 (sprot)


PEAR1_HUMAN Platelet endothelial aggregation receptor 1 (sprot)


AAKG2_HUMAN 5'-AMP-activated protein kinase subunit gamma-2 (sprot)


GXLT2_HUMAN Glucoside xylosyltransferase 2 (sprot)


arrhythmogenic right ventricular dysplasia 2


ACSL5_HUMAN Long-chain-fatty-acid--CoA ligase 5 (sprot)


EMP2_HUMAN Epithelial membrane protein 2 (sprot)


DNM3A_HUMAN DNA (cytosine-5)-methyltransferase 3A (sprot)


MED26_HUMAN Mediator of RNA polymerase II transcription subunit 26 (sprot)


NXF3_HUMAN Nuclear RNA export factor 3 (sprot)


PPIB_HUMAN Peptidyl-prolyl cis-trans isomerase B (sprot)


SHH_HUMAN Sonic hedgehog protein (sprot)


RM16_HUMAN 39S ribosomal protein L16, mitochondrial (sprot)


ATS19_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 19 (sprot)


mucopolysaccharidosis type 2, attenuated form


GUC1C_HUMAN Guanylyl cyclase-activating protein 3 (sprot)


KCMB3_HUMAN Calcium-activated potassium channel subunit beta-3 (sprot)


ZNF2_HUMAN Zinc finger protein 2 (sprot)


NOL10_HUMAN Nucleolar protein 10 (sprot)


IFT22_HUMAN Intraflagellar transport protein 22 homolog (sprot)


MMP12_HUMAN Macrophage metalloelastase (sprot)


NELL1_HUMAN Protein kinase C-binding protein NELL1 (sprot)


SYF1_HUMAN Pre-mRNA-splicing factor SYF1 (sprot)


NFIP2_HUMAN NEDD4 family-interacting protein 2 (sprot)


CEIP2_HUMAN Cell surface hyaluronidase (sprot)


GLI4_HUMAN Zinc finger protein GLI4 (sprot)


SPIT4_HUMAN Kunitz-type protease inhibitor 4 (sprot)


AP2C_HUMAN Transcription factor AP-2 gamma (sprot)


NUCKS_HUMAN Nuclear ubiquitous casein and cyclin-dependent kinase substrate 1 (sprot)


SHSA2_HUMAN Protein shisa-2 homolog (sprot)


DRB5_HUMAN HLA class II histocompatibility antigen, DR beta 5 chain (sprot)


4EBP2_HUMAN Eukaryotic translation initiation factor 4E-binding protein 2 (sprot)


SCOT2_HUMAN Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial (sprot)


THIM_HUMAN 3-ketoacyl-CoA thiolase, mitochondrial (sprot)


progressive familial intrahepatic cholestasis


PNPT1_HUMAN Polyribonucleotide nucleotidyltransferase 1, mitochondrial (sprot)


FEM1B_HUMAN Protein fem-1 homolog B (sprot)


TDGF1_HUMAN Teratocarcinoma-derived growth factor 1 (sprot)


TM14C_HUMAN Transmembrane protein 14C (sprot)


HHLA2_HUMAN HERV-H LTR-associating protein 2 (sprot)


MSPD3_HUMAN Motile sperm domain-containing protein 3 (sprot)


CLPT1_HUMAN Putative lipid scramblase CLPTM1 (sprot)


FBX31_HUMAN F-box only protein 31 (sprot)


idiopathic mast cell activation syndrome


MGAT2-congenital disorder of glycosylation


PDCD2_HUMAN Programmed cell death protein 2 (sprot)


TAFA3_HUMAN Chemokine-like protein TAFA-3 (sprot)


2A5G_HUMAN Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform (sprot)


SE6L1_HUMAN Seizure 6-like protein (sprot)


MED29_HUMAN Mediator of RNA polymerase II transcription subunit 29 (sprot)


WDR61_HUMAN WD repeat-containing protein 61 (sprot)


TNR27_HUMAN Tumor necrosis factor receptor superfamily member 27 (sprot)


RPAP3_HUMAN RNA polymerase II-associated protein 3 (sprot)


SULF2_HUMAN Extracellular sulfatase Sulf-2 (sprot)


NKX21_HUMAN Homeobox protein Nkx-2.1 (sprot)


G6PT1_HUMAN Glucose-6-phosphate exchanger SLC37A4 (sprot)


HINT2_HUMAN Adenosine 5'-monophosphoramidase HINT2 (sprot)


KCRS_HUMAN Creatine kinase S-type, mitochondrial (sprot)


congenital plasminogen activator inhibitor type 1 deficiency


ES8L3_HUMAN Epidermal growth factor receptor kinase substrate 8-like protein 3 (sprot)


F107A_HUMAN Actin-associated protein FAM107A (sprot)


CCND2_HUMAN G1/S-specific cyclin-D2 (sprot)


LAR4B_HUMAN La-related protein 4B (sprot)


GP161_HUMAN G-protein coupled receptor 161 (sprot)


EYS_HUMAN Protein eyes shut homolog (sprot)


RSCA1_HUMAN Regulatory solute carrier protein family 1 member 1 (sprot)


PICK1_HUMAN PRKCA-binding protein (sprot)


OTUD5_HUMAN OTU domain-containing protein 5 (sprot)


HUTH_HUMAN Histidine ammonia-lyase (sprot)


ERP29_HUMAN Endoplasmic reticulum resident protein 29 (sprot)


RCCD1_HUMAN RCC1 domain-containing protein 1 (sprot)


LACTB_HUMAN Serine beta-lactamase-like protein LACTB, mitochondrial (sprot)


CAPON_HUMAN Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (sprot)


RBM25_HUMAN RNA-binding protein 25 (sprot)


A2ML1_HUMAN Alpha-2-macroglobulin-like protein 1 (sprot)


RNZ1_HUMAN Zinc phosphodiesterase ELAC protein 1 (sprot)


DYH3_HUMAN Dynein axonemal heavy chain 3 (sprot)


RAB37_HUMAN Ras-related protein Rab-37 (sprot)


LRP1_HUMAN Prolow-density lipoprotein receptor-related protein 1 (sprot)


FRK_HUMAN Tyrosine-protein kinase FRK (sprot)


ABCA2_HUMAN ATP-binding cassette sub-family A member 2 (sprot)


CRFR1_HUMAN Corticotropin-releasing factor receptor 1 (sprot)


LRP8_HUMAN Low-density lipoprotein receptor-related protein 8 (sprot)


ENOX1_HUMAN Ecto-NOX disulfide-thiol exchanger 1 (sprot)


RSLAA_HUMAN Ras-like protein family member 10A (sprot)


VAMP1_HUMAN Vesicle-associated membrane protein 1 (sprot)


LCE1A_HUMAN Late cornified envelope protein 1A (sprot)


RSU1_HUMAN Ras suppressor protein 1 (sprot)


thyroid gland undifferentiated (anaplastic) carcinoma


IGFR1_HUMAN IGF-like family receptor 1 (sprot)


PTPRU_HUMAN Receptor-type tyrosine-protein phosphatase U (sprot)


TULP4_HUMAN Tubby-related protein 4 (sprot)


PTH2R_HUMAN Parathyroid hormone 2 receptor (sprot)


WEE2_HUMAN Wee1-like protein kinase 2 (sprot)


MTF2_HUMAN Metal-response element-binding transcription factor 2 (sprot)


SP7_HUMAN Transcription factor Sp7 (sprot)


S38A1_HUMAN Sodium-coupled neutral amino acid symporter 1 (sprot)


EID2_HUMAN EP300-interacting inhibitor of differentiation 2 (sprot)


UPP_HUMAN Uracil phosphoribosyltransferase homolog (sprot)


FGF23_HUMAN Fibroblast growth factor 23 (sprot)


hereditary myopathy with lactic acidosis due to ISCU deficiency


ISK13_HUMAN Serine protease inhibitor Kazal-type 13 (sprot)


CEP76_HUMAN Centrosomal protein of 76 kDa (sprot)


MLH1_HUMAN DNA mismatch repair protein Mlh1 (sprot)


SKA2_HUMAN Spindle and kinetochore-associated protein 2 (sprot)


ISK9_HUMAN Serine protease inhibitor Kazal-type 9 (sprot)


ST17B_HUMAN Serine/threonine-protein kinase 17B (sprot)


LHPP_HUMAN Phospholysine phosphohistidine inorganic pyrophosphate phosphatase (sprot)


TSLP_HUMAN Thymic stromal lymphopoietin (sprot)


SMRD2_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 (sprot)


qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan


TM41B_HUMAN Transmembrane protein 41B (sprot)


RU17_HUMAN U1 small nuclear ribonucleoprotein 70 kDa (sprot)


H2B1N_HUMAN Histone H2B type 1-N (sprot)


TBC3A_HUMAN TBC1 domain family member 3 (sprot)


AGRB1_HUMAN Adhesion G protein-coupled receptor B1 (sprot)


TBA1C_HUMAN Tubulin alpha-1C chain (sprot)


PADI1_HUMAN Protein-arginine deiminase type-1 (sprot)


PAR15_HUMAN Protein mono-ADP-ribosyltransferase PARP15 (sprot)


SG1C1_HUMAN Secretoglobin family 1C member 1 (sprot)


PLCC_HUMAN 1-acyl-sn-glycerol-3-phosphate acyltransferase gamma (sprot)


CC14B_HUMAN Dual specificity protein phosphatase CDC14B (sprot)


HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial (sprot)


MAST1_HUMAN Microtubule-associated serine/threonine-protein kinase 1 (sprot)


telangiectasia macularis eruptiva perstans


CHSS1_HUMAN Chondroitin sulfate synthase 1 (sprot)


ELK4_HUMAN ETS domain-containing protein Elk-4 (sprot)


FGR_HUMAN Tyrosine-protein kinase Fgr (sprot)


GNA11_HUMAN Guanine nucleotide-binding protein subunit alpha-11 (sprot)


SPF30_HUMAN Survival of motor neuron-related-splicing factor 30 (sprot)


C8AP2_HUMAN CASP8-associated protein 2 (sprot)


GP153_HUMAN Probable G-protein coupled receptor 153 (sprot)


PHS_HUMAN Pterin-4-alpha-carbinolamine dehydratase (sprot)


RBBP4_HUMAN Histone-binding protein RBBP4 (sprot)


IKZF5_HUMAN Zinc finger protein Pegasus (sprot)


TTC7B_HUMAN Tetratricopeptide repeat protein 7B (sprot)


testicular non-seminomatous germ cell cancer


PDE11_HUMAN Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A (sprot)


CLIC3_HUMAN Chloride intracellular channel protein 3 (sprot)


ZNF44_HUMAN Zinc finger protein 44 (sprot)


NU5M_HUMAN NADH-ubiquinone oxidoreductase chain 5 (sprot)


RPAB1_HUMAN DNA-directed RNA polymerases I, II, and III subunit RPABC1 (sprot)


CCG5_HUMAN Voltage-dependent calcium channel gamma-5 subunit (sprot)


ARL8B_HUMAN ADP-ribosylation factor-like protein 8B (sprot)


STRA8_HUMAN Stimulated by retinoic acid gene 8 protein homolog (sprot)


congenital diarrhea 5 with tufting enteropathy


KAD2_HUMAN Adenylate kinase 2, mitochondrial (sprot)


ANRA2_HUMAN Ankyrin repeat family A protein 2 (sprot)


TA2R5_HUMAN Taste receptor type 2 member 5 (sprot)


S27A6_HUMAN Long-chain fatty acid transport protein 6 (sprot)


TANK_HUMAN TRAF family member-associated NF-kappa-B activator (sprot)


BTBD7_HUMAN BTB/POZ domain-containing protein 7 (sprot)


FA20C_HUMAN Extracellular serine/threonine protein kinase FAM20C (sprot)


SEZ6_HUMAN Seizure protein 6 homolog (sprot)


MRCKG_HUMAN Serine/threonine-protein kinase MRCK gamma (sprot)


primary intraosseous squamous cell carcinoma


polyhydramnios, megalencephaly, and symptomatic epilepsy


MAGI2_HUMAN Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 (sprot)


HSPB6_HUMAN Heat shock protein beta-6 (sprot)


ZN655_HUMAN Zinc finger protein 655 (sprot)


autosomal recessive intermediate Charcot-Marie-Tooth disease


HPS6_HUMAN BLOC-2 complex member HPS6 (sprot)


RL23_HUMAN 60S ribosomal protein L23 (sprot)


EIF3H_HUMAN Eukaryotic translation initiation factor 3 subunit H (sprot)


LEMD2_HUMAN LEM domain-containing protein 2 (sprot)


PDK2_HUMAN [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial (sprot)


ectodermal dysplasia-cutaneous syndactyly syndrome


GTR9_HUMAN Solute carrier family 2, facilitated glucose transporter member 9 (sprot)


2A5A_HUMAN Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform (sprot)


ZBT7B_HUMAN Zinc finger and BTB domain-containing protein 7B (sprot)


MRP_HUMAN MARCKS-related protein (sprot)


ESPB1_HUMAN Epididymal sperm-binding protein 1 (sprot)


MYB_HUMAN Transcriptional activator Myb (sprot)


adult-onset autosomal dominant demyelinating leukodystrophy


HIP1R_HUMAN Huntingtin-interacting protein 1-related protein (sprot)


MAGI1_HUMAN Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 (sprot)


BIRC5_HUMAN Baculoviral IAP repeat-containing protein 5 (sprot)


deficiency in anterior pituitary function - variable immunodeficiency syndrome


GALE_HUMAN UDP-glucose 4-epimerase (sprot)


SART3_HUMAN Squamous cell carcinoma antigen recognized by T-cells 3 (sprot)


horizontal gaze palsy with progressive scoliosis


CR2_HUMAN Complement receptor type 2 (sprot)


ADH6_HUMAN Alcohol dehydrogenase 6 (sprot)


LCORL_HUMAN Ligand-dependent nuclear receptor corepressor-like protein (sprot)


isolated growth hormone deficiency type II


TFE2_HUMAN Transcription factor E2-alpha (sprot)


FYCO1_HUMAN FYVE and coiled-coil domain-containing protein 1 (sprot)


EXOC8_HUMAN Exocyst complex component 8 (sprot)


SDCG8_HUMAN Serologically defined colon cancer antigen 8 (sprot)


SDHF2_HUMAN Succinate dehydrogenase assembly factor 2, mitochondrial (sprot)


MRP3_HUMAN ATP-binding cassette sub-family C member 3 (sprot)


RHG36_HUMAN Rho GTPase-activating protein 36 (sprot)


DVLP1_HUMAN Putative segment polarity protein dishevelled homolog DVL1P1 (sprot)


LHPL2_HUMAN LHFPL tetraspan subfamily member 2 protein (sprot)


BRD1_HUMAN Bromodomain-containing protein 1 (sprot)


TM196_HUMAN Transmembrane protein 196 (sprot)


TTF2_HUMAN Transcription termination factor 2 (sprot)


TMC3_HUMAN Transmembrane channel-like protein 3 (sprot)


ZN589_HUMAN Zinc finger protein 589 (sprot)


SSH3_HUMAN Protein phosphatase Slingshot homolog 3 (sprot)


P3H3_HUMAN Prolyl 3-hydroxylase 3 (sprot)


poorly differentiated thyroid gland carcinoma


C102B_HUMAN Coiled-coil domain-containing protein 102B (sprot)


METL9_HUMAN Protein-L-histidine N-pros-methyltransferase (sprot)


GCP6_HUMAN Gamma-tubulin complex component 6 (sprot)


CNOT3_HUMAN CCR4-NOT transcription complex subunit 3 (sprot)


ZIC4_HUMAN Zinc finger protein ZIC 4 (sprot)


S1PR1_HUMAN Sphingosine 1-phosphate receptor 1 (sprot)


LOX15_HUMAN Polyunsaturated fatty acid lipoxygenase ALOX15 (sprot)


DOCK4_HUMAN Dedicator of cytokinesis protein 4 (sprot)


atypical childhood epilepsy with centrotemporal spikes


FBX42_HUMAN F-box only protein 42 (sprot)


MSPD1_HUMAN Motile sperm domain-containing protein 1 (sprot)


RNF31_HUMAN E3 ubiquitin-protein ligase RNF31 (sprot)


PTPRB_HUMAN Receptor-type tyrosine-protein phosphatase beta (sprot)


MALD2_HUMAN MARVEL domain-containing protein 2 (sprot)


LZTL1_HUMAN Leucine zipper transcription factor-like protein 1 (sprot)


CEAM6_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 6 (sprot)


PYM1_HUMAN Partner of Y14 and mago (sprot)


MIB2_HUMAN E3 ubiquitin-protein ligase MIB2 (sprot)


EVI5_HUMAN Ecotropic viral integration site 5 protein homolog (sprot)


SMUG1_HUMAN Single-strand selective monofunctional uracil DNA glycosylase (sprot)


FKBP5_HUMAN Peptidyl-prolyl cis-trans isomerase FKBP5 (sprot)


SYIM_HUMAN Isoleucine--tRNA ligase, mitochondrial (sprot)


FBXW5_HUMAN F-box/WD repeat-containing protein 5 (sprot)


SMAG1_HUMAN Protein Smaug homolog 1 (sprot)


AT2C2_HUMAN Calcium-transporting ATPase type 2C member 2 (sprot)


PEG3_HUMAN Paternally-expressed gene 3 protein (sprot)


RBP2_HUMAN E3 SUMO-protein ligase RanBP2 (sprot)


ZNF10_HUMAN Zinc finger protein 10 (sprot)


TR19L_HUMAN Tumor necrosis factor receptor superfamily member 19L (sprot)


MYO1C_HUMAN Unconventional myosin-Ic (sprot)


FUT5_HUMAN 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5 (sprot)


CEL_HUMAN Bile salt-activated lipase (sprot)


rosette-forming glioneuronal tumor of fourth ventricule


TR150_HUMAN Thyroid hormone receptor-associated protein 3 (sprot)


RAD50_HUMAN DNA repair protein RAD50 (sprot)


ARI2_HUMAN E3 ubiquitin-protein ligase ARIH2 (sprot)


PGAP6_HUMAN Post-GPI attachment to proteins factor 6 (sprot)


CHTOP_HUMAN Chromatin target of PRMT1 protein (sprot)


WBP4_HUMAN WW domain-binding protein 4 (sprot)


TCPR2_HUMAN Tectonin beta-propeller repeat-containing protein 2 (sprot)


MEA1_HUMAN Male-enhanced antigen 1 (sprot)


PDLI7_HUMAN PDZ and LIM domain protein 7 (sprot)


malignant pineal area germ cell neoplasm


SL9B1_HUMAN Sodium/hydrogen exchanger 9B1 (sprot)


SCNNB_HUMAN Amiloride-sensitive sodium channel subunit beta (sprot)


THAP3_HUMAN THAP domain-containing protein 3 (sprot)


FBSP1_HUMAN F-box/SPRY domain-containing protein 1 (sprot)


AUHM_HUMAN Methylglutaconyl-CoA hydratase, mitochondrial (sprot)


ATF3_HUMAN Cyclic AMP-dependent transcription factor ATF-3 (sprot)


DZIP3_HUMAN E3 ubiquitin-protein ligase DZIP3 (sprot)


TMPS5_HUMAN Transmembrane protease serine 5 (sprot)


CAR14_HUMAN Caspase recruitment domain-containing protein 14 (sprot)


LGI3_HUMAN Leucine-rich repeat LGI family member 3 (sprot)


CUED1_HUMAN CUE domain-containing protein 1 (sprot)


arrhythmogenic cardiomyopathy with woolly hair and keratoderma


PA2GF_HUMAN Group IIF secretory phospholipase A2 (sprot)


TEDM1_HUMAN Transmembrane epididymal protein 1 (sprot)


1433B_HUMAN 14-3-3 protein beta/alpha (sprot)


RM12_HUMAN 39S ribosomal protein L12, mitochondrial (sprot)


SNAT_HUMAN Serotonin N-acetyltransferase (sprot)


PARM1_HUMAN Prostate androgen-regulated mucin-like protein 1 (sprot)


DDX4_HUMAN Probable ATP-dependent RNA helicase DDX4 (sprot)


RAB30_HUMAN Ras-related protein Rab-30 (sprot)


TB10B_HUMAN TBC1 domain family member 10B (sprot)


progressive supranuclear palsy-corticobasal syndrome


A20A1_HUMAN Ankyrin repeat domain-containing protein 20A1 (sprot)


X-linked myopathy with excessive autophagy


UD2B7_HUMAN UDP-glucuronosyltransferase 2B7 (sprot)


RL10L_HUMAN 60S ribosomal protein L10-like (sprot)


APC16_HUMAN Anaphase-promoting complex subunit 16 (sprot)


UB2V1_HUMAN Ubiquitin-conjugating enzyme E2 variant 1 (sprot)


F10A1_HUMAN Hsc70-interacting protein (sprot)


EDEM3_HUMAN ER degradation-enhancing alpha-mannosidase-like protein 3 (sprot)


KLH38_HUMAN Kelch-like protein 38 (sprot)


MTMR9_HUMAN Myotubularin-related protein 9 (sprot)


spondylometaphyseal dysplasia, Kozlowski type


RHG27_HUMAN Rho GTPase-activating protein 27 (sprot)


UFM1_HUMAN Ubiquitin-fold modifier 1 (sprot)


BMR1A_HUMAN Bone morphogenetic protein receptor type-1A (sprot)


PHP14_HUMAN 14 kDa phosphohistidine phosphatase (sprot)


KCJ12_HUMAN ATP-sensitive inward rectifier potassium channel 12 (sprot)


FL2D_HUMAN Pre-mRNA-splicing regulator WTAP (sprot)


AHSA2_HUMAN Putative activator of 90 kDa heat shock protein ATPase homolog 2 (sprot)


BABA2_HUMAN BRISC and BRCA1-A complex member 2 (sprot)


KAD6_HUMAN Adenylate kinase isoenzyme 6 (sprot)


TGFB1_HUMAN Transforming growth factor beta-1 proprotein (sprot)


PLRKT_HUMAN Plasminogen receptor (KT) (sprot)


NDUF4_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 (sprot)


PDRG1_HUMAN p53 and DNA damage-regulated protein 1 (sprot)


DNJB9_HUMAN DnaJ homolog subfamily B member 9 (sprot)


congenital heart defects, dysmorphic facial features, and intellectual developmental disorder


PCDBA_HUMAN Protocadherin beta-10 (sprot)


CLCN7_HUMAN H(+)/Cl(-) exchange transporter 7 (sprot)


GPAA1_HUMAN Glycosylphosphatidylinositol anchor attachment 1 protein (sprot)


isolated congenital hypogonadotropic hypogonadism


GBRB1_HUMAN Gamma-aminobutyric acid receptor subunit beta-1 (sprot)


TR3N_HUMAN Putative uncharacterized protein TXNRD3NB (sprot)


PHYIP_HUMAN Phytanoyl-CoA hydroxylase-interacting protein (sprot)


DJC17_HUMAN DnaJ homolog subfamily C member 17 (sprot)


SCNNG_HUMAN Amiloride-sensitive sodium channel subunit gamma (sprot)


AK1BA_HUMAN Aldo-keto reductase family 1 member B10 (sprot)


CPSF2_HUMAN Cleavage and polyadenylation specificity factor subunit 2 (sprot)


IQEC1_HUMAN IQ motif and SEC7 domain-containing protein 1 (sprot)


UGPA_HUMAN UTP--glucose-1-phosphate uridylyltransferase (sprot)


AAKB1_HUMAN 5'-AMP-activated protein kinase subunit beta-1 (sprot)


GPR42_HUMAN G-protein coupled receptor 42 (sprot)


RFC5_HUMAN Replication factor C subunit 5 (sprot)


UN93A_HUMAN Protein unc-93 homolog A (sprot)


PMEL_HUMAN Melanocyte protein PMEL (sprot)


S36A3_HUMAN Proton-coupled amino acid transporter 3 (sprot)


KCNG2_HUMAN Potassium voltage-gated channel subfamily G member 2 (sprot)


LIPR1_HUMAN Inactive pancreatic lipase-related protein 1 (sprot)


TYK2_HUMAN Non-receptor tyrosine-protein kinase TYK2 (sprot)


SFRP4_HUMAN Secreted frizzled-related protein 4 (sprot)


CD34_HUMAN Hematopoietic progenitor cell antigen CD34 (sprot)


APLP2_HUMAN Amyloid beta precursor like protein 2 (sprot)


RHG20_HUMAN Rho GTPase-activating protein 20 (sprot)


TAB3_HUMAN TGF-beta-activated kinase 1 and MAP3K7-binding protein 3 (sprot)


autosomal recessive nonsyndromic hearing loss 29


PAX5_HUMAN Paired box protein Pax-5 (sprot)


RUNX2_HUMAN Runt-related transcription factor 2 (sprot)


DOCK1_HUMAN Dedicator of cytokinesis protein 1 (sprot)


COQ6_HUMAN Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial (sprot)


GRK7_HUMAN Rhodopsin kinase GRK7 (sprot)


DCTD_HUMAN Deoxycytidylate deaminase (sprot)


ANF_HUMAN Natriuretic peptides A (sprot)


MDC1_HUMAN Mediator of DNA damage checkpoint protein 1 (sprot)


IMP2L_HUMAN Mitochondrial inner membrane protease subunit 2 (sprot)


NP1L5_HUMAN Nucleosome assembly protein 1-like 5 (sprot)


CO8A1_HUMAN Collagen alpha-1(VIII) chain (sprot)


ORC5_HUMAN Origin recognition complex subunit 5 (sprot)


ILDR1_HUMAN Immunoglobulin-like domain-containing receptor 1 (sprot)


JHD2C_HUMAN Probable JmjC domain-containing histone demethylation protein 2C (sprot)


CENPR_HUMAN Centromere protein R (sprot)


LECT2_HUMAN Leukocyte cell-derived chemotaxin-2 (sprot)


RPE_HUMAN Ribulose-phosphate 3-epimerase (sprot)


CDX2_HUMAN Homeobox protein CDX-2 (sprot)


WDR76_HUMAN WD repeat-containing protein 76 (sprot)


CCG1_HUMAN Voltage-dependent calcium channel gamma-1 subunit (sprot)


TTC12_HUMAN Tetratricopeptide repeat protein 12 (sprot)


TNAP3_HUMAN Tumor necrosis factor alpha-induced protein 3 (sprot)


PNKD_HUMAN Probable hydrolase PNKD (sprot)


DRAM2_HUMAN DNA damage-regulated autophagy modulator protein 2 (sprot)


CRIS1_HUMAN Cysteine-rich secretory protein 1 (sprot)


TNKS2_HUMAN Poly [ADP-ribose] polymerase tankyrase-2 (sprot)


ZN350_HUMAN Zinc finger protein 350 (sprot)


SUCA_HUMAN Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial (sprot)


ADCYA_HUMAN Adenylate cyclase type 10 (sprot)


MTEF1_HUMAN Transcription termination factor 1, mitochondrial (sprot)


DPRX_HUMAN Divergent paired-related homeobox (sprot)


EAPP_HUMAN E2F-associated phosphoprotein (sprot)


Vibrio cholerae CVD 103-HGR strain live antigen


NDUA6_HUMAN NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 (sprot)


GID4_HUMAN Glucose-induced degradation protein 4 homolog (sprot)


MTCH1_HUMAN Mitochondrial carrier homolog 1 (sprot)


MTF1_HUMAN Metal regulatory transcription factor 1 (sprot)


PDLI4_HUMAN PDZ and LIM domain protein 4 (sprot)


KHDR2_HUMAN KH domain-containing, RNA-binding, signal transduction-associated protein 2 (sprot)


STEA4_HUMAN Metalloreductase STEAP4 (sprot)


PAI2_HUMAN Plasminogen activator inhibitor 2 (sprot)


SMAD5_HUMAN Mothers against decapentaplegic homolog 5 (sprot)


PROS_HUMAN Vitamin K-dependent protein S (sprot)


SL9A4_HUMAN Sodium/hydrogen exchanger 4 (sprot)


carbamoyl phosphate synthetase I deficiency disease


CF089_HUMAN Bombesin receptor-activated protein C6orf89 (sprot)


Nijmegen breakage syndrome-like disorder


5HT2B_HUMAN 5-hydroxytryptamine receptor 2B (sprot)


EI24_HUMAN Etoposide-induced protein 2.4 homolog (sprot)


MDH1B_HUMAN Putative malate dehydrogenase 1B (sprot)


ARL8A_HUMAN ADP-ribosylation factor-like protein 8A (sprot)


RS17_HUMAN 40S ribosomal protein S17 (sprot)


CNTF_HUMAN Ciliary neurotrophic factor (sprot)


SC16B_HUMAN Protein transport protein Sec16B (sprot)


NOLC1_HUMAN Nucleolar and coiled-body phosphoprotein 1 (sprot)


PCP2_HUMAN Purkinje cell protein 2 homolog (sprot)


KI2S2_HUMAN Killer cell immunoglobulin-like receptor 2DS2 (sprot)


TRPM5_HUMAN Transient receptor potential cation channel subfamily M member 5 (sprot)


WFDC5_HUMAN WAP four-disulfide core domain protein 5 (sprot)


CAH8_HUMAN Carbonic anhydrase-related protein (sprot)


CAF17_HUMAN Putative transferase CAF17, mitochondrial (sprot)


RPGP1_HUMAN Rap1 GTPase-activating protein 1 (sprot)


ATPG_HUMAN ATP synthase subunit gamma, mitochondrial (sprot)


cysteine and histidine-rich protein 1 (human)


TASP1_HUMAN Threonine aspartase 1 (sprot)


NSUN6_HUMAN tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 (sprot)


ACS2A_HUMAN Acyl-coenzyme A synthetase ACSM2A, mitochondrial (sprot)


KCD11_HUMAN BTB/POZ domain-containing protein KCTD11 (sprot)


isolated congenital growth hormone deficiency


HS71B_HUMAN Heat shock 70 kDa protein 1B (sprot)


CCD78_HUMAN Coiled-coil domain-containing protein 78 (sprot)


S22A9_HUMAN Organic anion transporter 7 (sprot)


CDCP2_HUMAN CUB domain-containing protein 2 (sprot)


IFT1B_HUMAN Interferon-induced protein with tetratricopeptide repeats 1B (sprot)


polycystic kidney disease 3 with or without polycystic liver disease


CHK1_HUMAN Serine/threonine-protein kinase Chk1 (sprot)


DUS8_HUMAN Dual specificity protein phosphatase 8 (sprot)


PSG9_HUMAN Pregnancy-specific beta-1-glycoprotein 9 (sprot)


ZNRF3_HUMAN E3 ubiquitin-protein ligase ZNRF3 (sprot)


IRAK4_HUMAN Interleukin-1 receptor-associated kinase 4 (sprot)


TRI67_HUMAN Tripartite motif-containing protein 67 (sprot)


HOME1_HUMAN Homer protein homolog 1 (sprot)


SAST_HUMAN S-acyl fatty acid synthase thioesterase, medium chain (sprot)


F111B_HUMAN Serine protease FAM111B (sprot)


VASH2_HUMAN Tubulinyl-Tyr carboxypeptidase 2 (sprot)


NCOR2_HUMAN Nuclear receptor corepressor 2 (sprot)


ATS18_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 18 (sprot)


PTPRA_HUMAN Receptor-type tyrosine-protein phosphatase alpha (sprot)


ALKB7_HUMAN Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial (sprot)


KI67_HUMAN Proliferation marker protein Ki-67 (sprot)


MITF_HUMAN Microphthalmia-associated transcription factor (sprot)


AP1G2_HUMAN AP-1 complex subunit gamma-like 2 (sprot)


RAE1L_HUMAN mRNA export factor RAE1 (sprot)


BIG3_HUMAN Brefeldin A-inhibited guanine nucleotide-exchange protein 3 (sprot)


RNF44_HUMAN RING finger protein 44 (sprot)


CAC1B_HUMAN Voltage-dependent N-type calcium channel subunit alpha-1B (sprot)


GGTL2_HUMAN Glutathione hydrolase light chain 2 (sprot)


LOX5_HUMAN Polyunsaturated fatty acid 5-lipoxygenase (sprot)


GTR7_HUMAN Solute carrier family 2, facilitated glucose transporter member 7 (sprot)


CC112_HUMAN Coiled-coil domain-containing protein 112 (sprot)


IGS11_HUMAN Immunoglobulin superfamily member 11 (sprot)


KPB2_HUMAN Phosphorylase b kinase regulatory subunit alpha, liver isoform (sprot)


OFCC1_HUMAN Orofacial cleft 1 candidate gene 1 protein (sprot)


TARG1_HUMAN Trafficking regulator of GLUT4 1 (sprot)


ATP8_HUMAN ATP synthase protein 8 (sprot)


TLX3_HUMAN T-cell leukemia homeobox protein 3 (sprot)


ZNF91_HUMAN Zinc finger protein 91 (sprot)


BICD2_HUMAN Protein bicaudal D homolog 2 (sprot)


FOXN3_HUMAN Forkhead box protein N3 (sprot)


GBRA6_HUMAN Gamma-aminobutyric acid receptor subunit alpha-6 (sprot)


C3AR_HUMAN C3a anaphylatoxin chemotactic receptor (sprot)


SPXN2_HUMAN Sperm protein associated with the nucleus on the X chromosome N2 (sprot)


DHRS4_HUMAN Dehydrogenase/reductase SDR family member 4 (sprot)


HECD4_HUMAN Probable E3 ubiquitin-protein ligase HECTD4 (sprot)


ZBTB1_HUMAN Zinc finger and BTB domain-containing protein 1 (sprot)


LYRM7_HUMAN Complex III assembly factor LYRM7 (sprot)


IKZF2_HUMAN Zinc finger protein Helios (sprot)


ABT1_HUMAN Activator of basal transcription 1 (sprot)


7B2_HUMAN Neuroendocrine protein 7B2 (sprot)


NIPA2_HUMAN Magnesium transporter NIPA2 (sprot)


NDUB2_HUMAN NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial (sprot)


UBTD1_HUMAN Ubiquitin domain-containing protein 1 (sprot)


mitochondrial oxidative phosphorylation disorder


KC1A_HUMAN Casein kinase I isoform alpha (sprot)


RHXF1_HUMAN Rhox homeobox family member 1 (sprot)


PSMD5_HUMAN 26S proteasome non-ATPase regulatory subunit 5 (sprot)


gastric adenocarcinoma and proximal polyposis of the stomach


4ET_HUMAN Eukaryotic translation initiation factor 4E transporter (sprot)


MYO19_HUMAN Unconventional myosin-XIX (sprot)


ENPP4_HUMAN Bis(5'-adenosyl)-triphosphatase ENPP4 (sprot)


AP4A_HUMAN Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] (sprot)


RABX5_HUMAN Rab5 GDP/GTP exchange factor (sprot)


MET7B_HUMAN Thiol S-methyltransferase METTL7B (sprot)


FIL1L_HUMAN Filamin A-interacting protein 1-like (sprot)


GLP2R_HUMAN Glucagon-like peptide 2 receptor (sprot)


autosomal recessive nonsyndromic hearing loss 9


MCMBP_HUMAN Mini-chromosome maintenance complex-binding protein (sprot)


MAGBG_HUMAN Melanoma-associated antigen B16 (sprot)


MAST2_HUMAN Microtubule-associated serine/threonine-protein kinase 2 (sprot)


CISD1_HUMAN CDGSH iron-sulfur domain-containing protein 1 (sprot)


RAI2_HUMAN Retinoic acid-induced protein 2 (sprot)


LLR1_HUMAN Leucine-rich repeat protein 1 (sprot)


CRLF3_HUMAN Cytokine receptor-like factor 3 (sprot)


early-onset generalized limb-onset dystonia


PGAM1_HUMAN Phosphoglycerate mutase 1 (sprot)


ODAM_HUMAN Odontogenic ameloblast-associated protein (sprot)


FANCI_HUMAN Fanconi anemia group I protein (sprot)


AB1IP_HUMAN Amyloid beta A4 precursor protein-binding family B member 1-interacting protein (sprot)


LCK_HUMAN Tyrosine-protein kinase Lck (sprot)


von Willebrand disease (hereditary or acquired)


SOX17_HUMAN Transcription factor SOX-17 (sprot)


SRPRA_HUMAN Signal recognition particle receptor subunit alpha (sprot)


autosomal recessive nonsyndromic hearing loss 30


SKA1_HUMAN Spindle and kinetochore-associated protein 1 (sprot)


CMTR2_HUMAN Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 (sprot)


IPKG_HUMAN cAMP-dependent protein kinase inhibitor gamma (sprot)


MED18_HUMAN Mediator of RNA polymerase II transcription subunit 18 (sprot)


TKFC_HUMAN Triokinase/FMN cyclase (sprot)


PPM1B_HUMAN Protein phosphatase 1B (sprot)


LAMB2_HUMAN Laminin subunit beta-2 (sprot)


YTDC1_HUMAN YTH domain-containing protein 1 (sprot)


LRP4_HUMAN Low-density lipoprotein receptor-related protein 4 (sprot)


KDM5C_HUMAN Lysine-specific demethylase 5C (sprot)


UBP10_HUMAN Ubiquitin carboxyl-terminal hydrolase 10 (sprot)


MPP10_HUMAN U3 small nucleolar ribonucleoprotein protein MPP10 (sprot)


MAPK2_HUMAN MAP kinase-activated protein kinase 2 (sprot)


PDE10_HUMAN cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A (sprot)


CLC4E_HUMAN C-type lectin domain family 4 member E (sprot)


DDX56_HUMAN Probable ATP-dependent RNA helicase DDX56 (sprot)


HMX2_HUMAN Homeobox protein HMX2 (sprot)


VP37B_HUMAN Vacuolar protein sorting-associated protein 37B (sprot)


T22D4_HUMAN TSC22 domain family protein 4 (sprot)


LUC7L_HUMAN Putative RNA-binding protein Luc7-like 1 (sprot)


PGBD1_HUMAN PiggyBac transposable element-derived protein 1 (sprot)


CNGB1_HUMAN Cyclic nucleotide-gated cation channel beta-1 (sprot)


POPD3_HUMAN Popeye domain-containing protein 3 (sprot)


VGLL1_HUMAN Transcription cofactor vestigial-like protein 1 (sprot)


PARP2_HUMAN Poly [ADP-ribose] polymerase 2 (sprot)


P2R3A_HUMAN Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha (sprot)


NAR4_HUMAN Ecto-ADP-ribosyltransferase 4 (sprot)


TFPI2_HUMAN Tissue factor pathway inhibitor 2 (sprot)


CK068_HUMAN UPF0696 protein C11orf68 (sprot)


FGFR2_HUMAN Fibroblast growth factor receptor 2 (sprot)


GL8D1_HUMAN Glycosyltransferase 8 domain-containing protein 1 (sprot)


FOXF1_HUMAN Forkhead box protein F1 (sprot)


hypoxanthine guanine phosphoribosyltransferase partial deficiency


SP8_HUMAN Transcription factor Sp8 (sprot)


TIM9_HUMAN Mitochondrial import inner membrane translocase subunit Tim9 (sprot)


RPC7_HUMAN DNA-directed RNA polymerase III subunit RPC7 (sprot)


TDRD7_HUMAN Tudor domain-containing protein 7 (sprot)


autosomal recessive limb-girdle muscular dystrophy type 2T


CKLF2_HUMAN CKLF-like MARVEL transmembrane domain-containing protein 2 (sprot)


ERR3_HUMAN Estrogen-related receptor gamma (sprot)


FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix protein 2 (sprot)


TSSP_HUMAN Thymus-specific serine protease (sprot)


ECHP_HUMAN Peroxisomal bifunctional enzyme (sprot)


FCGR1_HUMAN High affinity immunoglobulin gamma Fc receptor I (sprot)


IRS2_HUMAN Insulin receptor substrate 2 (sprot)


NXF1_HUMAN Nuclear RNA export factor 1 (sprot)


RRP1_HUMAN Ribosomal RNA processing protein 1 homolog A (sprot)


MGT5A_HUMAN Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A (sprot)


ATF5_HUMAN Cyclic AMP-dependent transcription factor ATF-5 (sprot)


SRS12_HUMAN Serine/arginine-rich splicing factor 12 (sprot)


NPFF_HUMAN Pro-FMRFamide-related neuropeptide FF (sprot)


MYLK_HUMAN Myosin light chain kinase, smooth muscle (sprot)


E2AK1_HUMAN Eukaryotic translation initiation factor 2-alpha kinase 1 (sprot)


FOXO3_HUMAN Forkhead box protein O3 (sprot)


HXB1_HUMAN Homeobox protein Hox-B1 (sprot)


GBRAP_HUMAN Gamma-aminobutyric acid receptor-associated protein (sprot)


MED13_HUMAN Mediator of RNA polymerase II transcription subunit 13 (sprot)


GDF2_HUMAN Growth/differentiation factor 2 (sprot)


GPX2_HUMAN Glutathione peroxidase 2 (sprot)


MOB3B_HUMAN MOB kinase activator 3B (sprot)


ERF3B_HUMAN Eukaryotic peptide chain release factor GTP-binding subunit ERF3B (sprot)


FCG2C_HUMAN Low affinity immunoglobulin gamma Fc region receptor II-c (sprot)


TBL1R_HUMAN F-box-like/WD repeat-containing protein TBL1XR1 (sprot)


CELR2_HUMAN Cadherin EGF LAG seven-pass G-type receptor 2 (sprot)


NAT10_HUMAN RNA cytidine acetyltransferase (sprot)


NOP56_HUMAN Nucleolar protein 56 (sprot)


GBB1_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 (sprot)


DD19B_HUMAN ATP-dependent RNA helicase DDX19B (sprot)


NU1M_HUMAN NADH-ubiquinone oxidoreductase chain 1 (sprot)


SPTSB_HUMAN Serine palmitoyltransferase small subunit B (sprot)


ADRB3_HUMAN Beta-3 adrenergic receptor (sprot)


RPE65_HUMAN Retinoid isomerohydrolase (sprot)


RDH10_HUMAN Retinol dehydrogenase 10 (sprot)


Schistosoma japonicum infectious disease


FSD1_HUMAN Fibronectin type III and SPRY domain-containing protein 1 (sprot)


CNDP2_HUMAN Cytosolic non-specific dipeptidase (sprot)


GP142_HUMAN Probable G-protein coupled receptor 142 (sprot)


CNDG2_HUMAN Condensin-2 complex subunit G2 (sprot)


CO4A2_HUMAN Collagen alpha-2(IV) chain (sprot)


ENY2_HUMAN Transcription and mRNA export factor ENY2 (sprot)


ARNT2_HUMAN Aryl hydrocarbon receptor nuclear translocator 2 (sprot)


CXD2_HUMAN Gap junction delta-2 protein (sprot)


SFSWA_HUMAN Splicing factor, suppressor of white-apricot homolog (sprot)


LACB2_HUMAN Endoribonuclease LACTB2 (sprot)


SURF6_HUMAN Surfeit locus protein 6 (sprot)


ZSC16_HUMAN Zinc finger and SCAN domain-containing protein 16 (sprot)


CD2B2_HUMAN CD2 antigen cytoplasmic tail-binding protein 2 (sprot)


hypercalcemic type ovarian small cell carcinoma


ABRX2_HUMAN BRISC complex subunit Abraxas 2 (sprot)


SCMC2_HUMAN Calcium-binding mitochondrial carrier protein SCaMC-2 (sprot)


MMP1_HUMAN Interstitial collagenase (sprot)


CDK15_HUMAN Cyclin-dependent kinase 15 (sprot)


PTPRK_HUMAN Receptor-type tyrosine-protein phosphatase kappa (sprot)


DZI1L_HUMAN Cilium assembly protein DZIP1L (sprot)


SPIB_HUMAN Transcription factor Spi-B (sprot)


TP4AP_HUMAN Short transient receptor potential channel 4-associated protein (sprot)


ANGL7_HUMAN Angiopoietin-related protein 7 (sprot)


KCTD5_HUMAN BTB/POZ domain-containing protein KCTD5 (sprot)


RS27A_HUMAN Ubiquitin-40S ribosomal protein S27a (sprot)


KCNH1_HUMAN Potassium voltage-gated channel subfamily H member 1 (sprot)


SYQ_HUMAN Glutamine--tRNA ligase (sprot)


MANF_HUMAN Mesencephalic astrocyte-derived neurotrophic factor (sprot)


ADA32_HUMAN Disintegrin and metalloproteinase domain-containing protein 32 (sprot)


LMTK3_HUMAN Serine/threonine-protein kinase LMTK3 (sprot)


PKHH1_HUMAN Pleckstrin homology domain-containing family H member 1 (sprot)


TRI14_HUMAN Tripartite motif-containing protein 14 (sprot)


SAM50_HUMAN Sorting and assembly machinery component 50 homolog (sprot)


autosomal recessive Parkinson disease 14


GNPTG_HUMAN N-acetylglucosamine-1-phosphotransferase subunit gamma (sprot)


A7L3B_HUMAN Ataxin-7-like protein 3B (sprot)


MECR_HUMAN Enoyl-[acyl-carrier-protein] reductase, mitochondrial (sprot)


GOGA3_HUMAN Golgin subfamily A member 3 (sprot)


GPR62_HUMAN G-protein coupled receptor 62 (sprot)


LMBD1_HUMAN Lysosomal cobalamin transport escort protein LMBD1 (sprot)


CDKA1_HUMAN Cyclin-dependent kinase 2-associated protein 1 (sprot)


RFA4_HUMAN Replication protein A 30 kDa subunit (sprot)


KPSH1_HUMAN Serine/threonine-protein kinase H1 (sprot)


TBC8B_HUMAN TBC1 domain family member 8B (sprot)


MPPB_HUMAN Mitochondrial-processing peptidase subunit beta (sprot)


ASB10_HUMAN Ankyrin repeat and SOCS box protein 10 (sprot)


DPOE2_HUMAN DNA polymerase epsilon subunit 2 (sprot)


UCK1_HUMAN Uridine-cytidine kinase 1 (sprot)


TCF19_HUMAN Transcription factor 19 (sprot)


GPR22_HUMAN G-protein coupled receptor 22 (sprot)


ankyloblepharon filiforme adnatum-cleft palate syndrome


PBX1_HUMAN Pre-B-cell leukemia transcription factor 1 (sprot)


KI2L4_HUMAN Killer cell immunoglobulin-like receptor 2DL4 (sprot)


DCAF1_HUMAN DDB1- and CUL4-associated factor 1 (sprot)


CHMP3_HUMAN Charged multivesicular body protein 3 (sprot)


CHAC2_HUMAN Glutathione-specific gamma-glutamylcyclotransferase 2 (sprot)


RBM39_HUMAN RNA-binding protein 39 (sprot)


RUNX3_HUMAN Runt-related transcription factor 3 (sprot)


6PGD_HUMAN 6-phosphogluconate dehydrogenase, decarboxylating (sprot)


RAD54_HUMAN DNA repair and recombination protein RAD54-like (sprot)


CH60_HUMAN 60 kDa heat shock protein, mitochondrial (sprot)


BSH_HUMAN Brain-specific homeobox protein homolog (sprot)


muscular dystrophy-dystroglycanopathy, type A


AKAP2_HUMAN A-kinase anchor protein 2 (sprot)


TM59L_HUMAN Transmembrane protein 59-like (sprot)


FACR1_HUMAN Fatty acyl-CoA reductase 1 (sprot)


SYHM_HUMAN Histidine--tRNA ligase, mitochondrial (sprot)


ARGAL_HUMAN Rho guanine nucleotide exchange factor 10-like protein (sprot)


ENTP7_HUMAN Ectonucleoside triphosphate diphosphohydrolase 7 (sprot)


ZFAN6_HUMAN AN1-type zinc finger protein 6 (sprot)


myopathy, myofibrillar, 9, with early respiratory failure


ATP5E_HUMAN ATP synthase subunit epsilon, mitochondrial (sprot)


PSD12_HUMAN 26S proteasome non-ATPase regulatory subunit 12 (sprot)


RIPK2_HUMAN Receptor-interacting serine/threonine-protein kinase 2 (sprot)


OREX_HUMAN Hypocretin neuropeptide precursor (sprot)


TMM31_HUMAN Transmembrane protein 31 (sprot)


ANKR1_HUMAN Ankyrin repeat domain-containing protein 1 (sprot)


RAE1_HUMAN Rab proteins geranylgeranyltransferase component A 1 (sprot)


OASL_HUMAN 2'-5'-oligoadenylate synthase-like protein (sprot)


AGRL1_HUMAN Adhesion G protein-coupled receptor L1 (sprot)


NU205_HUMAN Nuclear pore complex protein Nup205 (sprot)


HPS1_HUMAN BLOC-3 complex member HPS1 (sprot)


AOC1_HUMAN Amiloride-sensitive amine oxidase [copper-containing] (sprot)


ocular melanoma with extraocular extension


ANKF1_HUMAN Ankyrin repeat and fibronectin type-III domain-containing protein 1 (sprot)


TAAR6_HUMAN Trace amine-associated receptor 6 (sprot)


DHYS_HUMAN Deoxyhypusine synthase (sprot)


ABCC9_HUMAN ATP-binding cassette sub-family C member 9 (sprot)


BNI3L_HUMAN BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like (sprot)


COPA_HUMAN Coatomer subunit alpha (sprot)


SPB1_HUMAN pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3 (sprot)


acute myeloid leukemia with t(9;11)(p22;q23)


THOC2_HUMAN THO complex subunit 2 (sprot)


INP5E_HUMAN Phosphatidylinositol polyphosphate 5-phosphatase type IV (sprot)


NAB1_HUMAN NGFI-A-binding protein 1 (sprot)


SPAG7_HUMAN Sperm-associated antigen 7 (sprot)


DNJB7_HUMAN DnaJ homolog subfamily B member 7 (sprot)


LEXM_HUMAN Lymphocyte expansion molecule (sprot)


ELL_HUMAN RNA polymerase II elongation factor ELL (sprot)


SPRR3_HUMAN Small proline-rich protein 3 (sprot)


MS4A7_HUMAN Membrane-spanning 4-domains subfamily A member 7 (sprot)


KCNE3_HUMAN Potassium voltage-gated channel subfamily E member 3 (sprot)


CP51A_HUMAN Lanosterol 14-alpha demethylase (sprot)


NPAP1_HUMAN Nuclear pore-associated protein 1 (sprot)


AGGF1_HUMAN Angiogenic factor with G patch and FHA domains 1 (sprot)


SCN3A_HUMAN Sodium channel protein type 3 subunit alpha (sprot)


DOCK3_HUMAN Dedicator of cytokinesis protein 3 (sprot)


C2C4A_HUMAN C2 calcium-dependent domain-containing protein 4A (sprot)


I17RE_HUMAN Interleukin-17 receptor E (sprot)


IF5A2_HUMAN Eukaryotic translation initiation factor 5A-2 (sprot)


MAN1_HUMAN Inner nuclear membrane protein Man1 (sprot)


TPC2A_HUMAN Trafficking protein particle complex subunit 2 (sprot)


RHBT3_HUMAN Rho-related BTB domain-containing protein 3 (sprot)


TAAR9_HUMAN Trace amine-associated receptor 9 (sprot)


MBNL2_HUMAN Muscleblind-like protein 2 (sprot)


autosomal dominant nonsyndromic hearing loss 22


BRNP2_HUMAN BMP/retinoic acid-inducible neural-specific protein 2 (sprot)


RPA1_HUMAN DNA-directed RNA polymerase I subunit RPA1 (sprot)


AT5G1_HUMAN ATP synthase F(0) complex subunit C1, mitochondrial (sprot)


HCAR1_HUMAN Hydroxycarboxylic acid receptor 1 (sprot)


IF2B_HUMAN Eukaryotic translation initiation factor 2 subunit 2 (sprot)


DHPR_HUMAN Dihydropteridine reductase (sprot)


T255A_HUMAN Transmembrane protein 255A (sprot)


TRI43_HUMAN Tripartite motif-containing protein 43 (sprot)


TP8L3_HUMAN Tumor necrosis factor alpha-induced protein 8-like protein 3 (sprot)


F13A_HUMAN Coagulation factor XIII A chain (sprot)


HYAS1_HUMAN Hyaluronan synthase 1 (sprot)


MED12_HUMAN Mediator of RNA polymerase II transcription subunit 12 (sprot)


obesity due to congenital leptin deficiency


BMI1_HUMAN Polycomb complex protein BMI-1 (sprot)


GGYF1_HUMAN GRB10-interacting GYF protein 1 (sprot)


CCD61_HUMAN Centrosomal protein CCDC61 (sprot)


hematopoietic and lymphoid system neoplasm


American house dust mite allergenic extract


SYYM_HUMAN Tyrosine--tRNA ligase, mitochondrial (sprot)


autosomal recessive distal renal tubular acidosis


MROH7_HUMAN Maestro heat-like repeat-containing protein family member 7 (sprot)


MET23_HUMAN Histone-arginine methyltransferase METTL23 (sprot)


PLCG2_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 (sprot)


DYH8_HUMAN Dynein axonemal heavy chain 8 (sprot)


GRM6_HUMAN Metabotropic glutamate receptor 6 (sprot)


ARI5A_HUMAN AT-rich interactive domain-containing protein 5A (sprot)


DR9C7_HUMAN Short-chain dehydrogenase/reductase family 9C member 7 (sprot)


SORC2_HUMAN VPS10 domain-containing receptor SorCS2 (sprot)


PSMD6_HUMAN 26S proteasome non-ATPase regulatory subunit 6 (sprot)


CRLF1_HUMAN Cytokine receptor-like factor 1 (sprot)


MROH1_HUMAN Maestro heat-like repeat-containing protein family member 1 (sprot)


TRIML_HUMAN Probable E3 ubiquitin-protein ligase TRIML1 (sprot)


MIPT3_HUMAN TRAF3-interacting protein 1 (sprot)


HACD4_HUMAN Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 4 (sprot)


RAB13_HUMAN Ras-related protein Rab-13 (sprot)


MCP_HUMAN Membrane cofactor protein (sprot)


MTMR7_HUMAN Myotubularin-related protein 7 (sprot)


AG10B_HUMAN Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase (sprot)


ORNT1_HUMAN Mitochondrial ornithine transporter 1 (sprot)


EMC10_HUMAN ER membrane protein complex subunit 10 (sprot)


maternal uniparental disomy of chromosome 20


CLCN3_HUMAN H(+)/Cl(-) exchange transporter 3 (sprot)


NRARP_HUMAN Notch-regulated ankyrin repeat-containing protein (sprot)


TM9S4_HUMAN Transmembrane 9 superfamily member 4 (sprot)


progesterone-receptor negative breast cancer


RAB5C_HUMAN Ras-related protein Rab-5C (sprot)


PKN3_HUMAN Serine/threonine-protein kinase N3 (sprot)


NSUN7_HUMAN Putative methyltransferase NSUN7 (sprot)


PGRP3_HUMAN Peptidoglycan recognition protein 3 (sprot)


TSSK4_HUMAN Testis-specific serine/threonine-protein kinase 4 (sprot)


CTDS1_HUMAN Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 (sprot)


ADNP2_HUMAN Activity-dependent neuroprotector homeobox protein 2 (sprot)


HLX_HUMAN H2.0-like homeobox protein (sprot)


EMAL3_HUMAN Echinoderm microtubule-associated protein-like 3 (sprot)


AMMR1_HUMAN Nuclear protein AMMECR1 (sprot)


CFA45_HUMAN Cilia- and flagella-associated protein 45 (sprot)


BHE22_HUMAN Class E basic helix-loop-helix protein 22 (sprot)


MNDA_HUMAN Myeloid cell nuclear differentiation antigen (sprot)


AKIP_HUMAN Aurora kinase A-interacting protein (sprot)


ZBTB6_HUMAN Zinc finger and BTB domain-containing protein 6 (sprot)


CIAO1_HUMAN Probable cytosolic iron-sulfur protein assembly protein CIAO1 (sprot)


TADA1_HUMAN Transcriptional adapter 1 (sprot)


R144B_HUMAN E3 ubiquitin-protein ligase RNF144B (sprot)


NEP1_HUMAN Ribosomal RNA small subunit methyltransferase NEP1 (sprot)


DRC2_HUMAN Dynein regulatory complex subunit 2 (sprot)


IRX2_HUMAN Iroquois-class homeodomain protein IRX-2 (sprot)


diffuse idiopathic pulmonary neuroendocrine cell hyperplasia


VPREB_HUMAN Immunoglobulin iota chain (sprot)


3BP2_HUMAN SH3 domain-binding protein 2 (sprot)


PPM1F_HUMAN Protein phosphatase 1F (sprot)


CXXC4_HUMAN CXXC-type zinc finger protein 4 (sprot)


FBX48_HUMAN F-box only protein 48 (sprot)


FES_HUMAN Tyrosine-protein kinase Fes/Fps (sprot)


DLGP2_HUMAN Disks large-associated protein 2 (sprot)


CDC16_HUMAN Cell division cycle protein 16 homolog (sprot)


PHLA1_HUMAN Pleckstrin homology-like domain family A member 1 (sprot)


MID49_HUMAN Mitochondrial dynamics protein MID49 (sprot)


DDX10_HUMAN Probable ATP-dependent RNA helicase DDX10 (sprot)


MIER3_HUMAN Mesoderm induction early response protein 3 (sprot)


MED15_HUMAN Mediator of RNA polymerase II transcription subunit 15 (sprot)


ICAM4_HUMAN Intercellular adhesion molecule 4 (sprot)


CFDP1_HUMAN Craniofacial development protein 1 (sprot)


PG12B_HUMAN Group XIIB secretory phospholipase A2-like protein (sprot)


PHAR2_HUMAN Phosphatase and actin regulator 2 (sprot)


H90B3_HUMAN Putative heat shock protein HSP 90-beta-3 (sprot)


GALT_HUMAN Galactose-1-phosphate uridylyltransferase (sprot)


FBX41_HUMAN F-box only protein 41 (sprot)


CRIS3_HUMAN Cysteine-rich secretory protein 3 (sprot)


RPC4_HUMAN DNA-directed RNA polymerase III subunit RPC4 (sprot)


TEX10_HUMAN Testis-expressed protein 10 (sprot)


IFIT1_HUMAN Interferon-induced protein with tetratricopeptide repeats 1 (sprot)


PACS1_HUMAN Phosphofurin acidic cluster sorting protein 1 (sprot)


osteopathia striata with cranial sclerosis


AGFG2_HUMAN Arf-GAP domain and FG repeat-containing protein 2 (sprot)


CNTP3_HUMAN Contactin-associated protein-like 3 (sprot)


SO3A1_HUMAN Solute carrier organic anion transporter family member 3A1 (sprot)


PPM1N_HUMAN Probable protein phosphatase 1N (sprot)


IRF6_HUMAN Interferon regulatory factor 6 (sprot)


DEN5B_HUMAN DENN domain-containing protein 5B (sprot)


MAP2_HUMAN Methionine aminopeptidase 2 (sprot)


UBP41_HUMAN Putative ubiquitin carboxyl-terminal hydrolase 41 (sprot)


CHM1B_HUMAN Charged multivesicular body protein 1b (sprot)


MINY4_HUMAN Probable ubiquitin carboxyl-terminal hydrolase MINDY-4 (sprot)


GPR34_HUMAN Probable G-protein coupled receptor 34 (sprot)


KCNJ9_HUMAN G protein-activated inward rectifier potassium channel 3 (sprot)


CP39A_HUMAN 24-hydroxycholesterol 7-alpha-hydroxylase (sprot)


PP14B_HUMAN Protein phosphatase 1 regulatory subunit 14B (sprot)


RIF1_HUMAN Telomere-associated protein RIF1 (sprot)


UD11_HUMAN UDP-glucuronosyltransferase 1A1 (sprot)


MRS2_HUMAN Magnesium transporter MRS2 homolog, mitochondrial (sprot)


chronic lymphocytic leukemia/small lymphocytic lymphoma


MPPD1_HUMAN Metallophosphoesterase domain-containing protein 1 (sprot)


childhood cerebellar astrocytic neoplasm


P4HA3_HUMAN Prolyl 4-hydroxylase subunit alpha-3 (sprot)


TRI69_HUMAN E3 ubiquitin-protein ligase TRIM69 (sprot)


PAR4_HUMAN Proteinase-activated receptor 4 (sprot)


PADC1_HUMAN Protease-associated domain-containing protein 1 (sprot)


RM44_HUMAN 39S ribosomal protein L44, mitochondrial (sprot)


PTPRD_HUMAN Receptor-type tyrosine-protein phosphatase delta (sprot)


INLR1_HUMAN Interferon lambda receptor 1 (sprot)


IF4E_HUMAN Eukaryotic translation initiation factor 4E (sprot)


DHB8_HUMAN (3R)-3-hydroxyacyl-CoA dehydrogenase (sprot)


TRM2A_HUMAN tRNA (uracil-5-)-methyltransferase homolog A (sprot)


CAH14_HUMAN Carbonic anhydrase 14 (sprot)


TS1R2_HUMAN Taste receptor type 1 member 2 (sprot)


primary cutaneous follicle center lymphoma


NUD18_HUMAN 8-oxo-dGDP phosphatase NUDT18 (sprot)


SOCS4_HUMAN Suppressor of cytokine signaling 4 (sprot)


5HT4R_HUMAN 5-hydroxytryptamine receptor 4 (sprot)


RPN1_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (sprot)


OAT_HUMAN Ornithine aminotransferase, mitochondrial (sprot)


TRRAP_HUMAN Transformation/transcription domain-associated protein (sprot)


CBPC2_HUMAN Cytosolic carboxypeptidase 2 (sprot)


GP174_HUMAN Probable G-protein coupled receptor 174 (sprot)


PIAS1_HUMAN E3 SUMO-protein ligase PIAS1 (sprot)


NUBP2_HUMAN Cytosolic Fe-S cluster assembly factor NUBP2 (sprot)


SC6A2_HUMAN Sodium-dependent noradrenaline transporter (sprot)


DCPS_HUMAN m7GpppX diphosphatase (sprot)


C1QT7_HUMAN Complement C1q tumor necrosis factor-related protein 7 (sprot)


CYREN_HUMAN Cell cycle regulator of non-homologous end joining (sprot)


PLBL2_HUMAN Putative phospholipase B-like 2 (sprot)


TDH_HUMAN Inactive L-threonine 3-dehydrogenase, mitochondrial (sprot)


PX11B_HUMAN Peroxisomal membrane protein 11B (sprot)


POPD2_HUMAN Popeye domain-containing protein 2 (sprot)


KCIP2_HUMAN Kv channel-interacting protein 2 (sprot)


CD2_HUMAN T-cell surface antigen CD2 (sprot)


KI26A_HUMAN Kinesin-like protein KIF26A (sprot)


SIAH3_HUMAN Seven in absentia homolog 3 (sprot)


RFPL1_HUMAN Ret finger protein-like 1 (sprot)


ovarian endometrioid adenocarcinoma with squamous differentiation


OXSR1_HUMAN Serine/threonine-protein kinase OSR1 (sprot)


PSMD9_HUMAN 26S proteasome non-ATPase regulatory subunit 9 (sprot)


PDE8A_HUMAN High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A (sprot)


TPGS2_HUMAN Tubulin polyglutamylase complex subunit 2 (sprot)


BICL1_HUMAN BICD family-like cargo adapter 1 (sprot)


IPPK_HUMAN Inositol-pentakisphosphate 2-kinase (sprot)


SH21A_HUMAN SH2 domain-containing protein 1A (sprot)


TTI2_HUMAN TELO2-interacting protein 2 (sprot)


SIAE_HUMAN Sialate O-acetylesterase (sprot)


ZDH12_HUMAN Palmitoyltransferase ZDHHC12 (sprot)


MC5R_HUMAN Melanocortin receptor 5 (sprot)


hereditary hypophosphatemic rickets with hypercalciuria


ARL11_HUMAN ADP-ribosylation factor-like protein 11 (sprot)


TPC2L_HUMAN Trafficking protein particle complex subunit 2-like protein (sprot)


ORNT2_HUMAN Mitochondrial ornithine transporter 2 (sprot)


TRIMM_HUMAN Probable E3 ubiquitin-protein ligase TRIML2 (sprot)


RAP2A_HUMAN Ras-related protein Rap-2a (sprot)


ZN746_HUMAN Zinc finger protein 746 (sprot)


parotid gland carcinoma ex pleomorphic adenoma


NKRF_HUMAN NF-kappa-B-repressing factor (sprot)


MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 (sprot)


GBP4_HUMAN Guanylate-binding protein 4 (sprot)


PA24A_HUMAN Cytosolic phospholipase A2 (sprot)


Z385D_HUMAN Zinc finger protein 385D (sprot)


KLHL1_HUMAN Kelch-like protein 1 (sprot)


FCHO2_HUMAN F-BAR domain only protein 2 (sprot)


ATD3B_HUMAN ATPase family AAA domain-containing protein 3B (sprot)


CC50A_HUMAN Cell cycle control protein 50A (sprot)


5HT2C_HUMAN 5-hydroxytryptamine receptor 2C (sprot)


GAR1_HUMAN H/ACA ribonucleoprotein complex subunit 1 (sprot)


PS1C1_HUMAN Psoriasis susceptibility 1 candidate gene 1 protein (sprot)


ATS2_HUMAN A disintegrin and metalloproteinase with thrombospondin motifs 2 (sprot)


SLX4_HUMAN Structure-specific endonuclease subunit SLX4 (sprot)


NPT3_HUMAN Sodium-dependent phosphate transport protein 3 (sprot)


PLK3_HUMAN Serine/threonine-protein kinase PLK3 (sprot)


KMT2D_HUMAN Histone-lysine N-methyltransferase 2D (sprot)


USE1_HUMAN Vesicle transport protein USE1 (sprot)


HYES_HUMAN Bifunctional epoxide hydrolase 2 (sprot)


CAH10_HUMAN Carbonic anhydrase-related protein 10 (sprot)


GLOD4_HUMAN Glyoxalase domain-containing protein 4 (sprot)


SPO11_HUMAN Meiotic recombination protein SPO11 (sprot)


PSG5_HUMAN Pregnancy-specific beta-1-glycoprotein 5 (sprot)


PSG3_HUMAN Pregnancy-specific beta-1-glycoprotein 3 (sprot)


ABCA3_HUMAN Phospholipid-transporting ATPase ABCA3 (sprot)


EID1_HUMAN EP300-interacting inhibitor of differentiation 1 (sprot)


ZBT38_HUMAN Zinc finger and BTB domain-containing protein 38 (sprot)


GEMI5_HUMAN Gem-associated protein 5 (sprot)


UXS1_HUMAN UDP-glucuronic acid decarboxylase 1 (sprot)


inborn disorder of gamma-aminobutyric acid metabolism


RHG08_HUMAN Rho GTPase-activating protein 8 (sprot)


SSRD_HUMAN Translocon-associated protein subunit delta (sprot)


autosomal recessive spinocerebellar ataxia 14


KI26B_HUMAN Kinesin-like protein KIF26B (sprot)


OFUT2_HUMAN GDP-fucose protein O-fucosyltransferase 2 (sprot)


ILF2_HUMAN Interleukin enhancer-binding factor 2 (sprot)


BIRC1_HUMAN Baculoviral IAP repeat-containing protein 1 (sprot)


GRB2_HUMAN Growth factor receptor-bound protein 2 (sprot)


DNPH1_HUMAN 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 (sprot)


SPP2C_HUMAN Signal peptide peptidase-like 2C (sprot)


TMPS4_HUMAN Transmembrane protease serine 4 (sprot)


PROD_HUMAN Proline dehydrogenase 1, mitochondrial (sprot)


NKX62_HUMAN Homeobox protein Nkx-6.2 (sprot)


SDS3_HUMAN Sin3 histone deacetylase corepressor complex component SDS3 (sprot)


X-linked intellectual disability with marfanoid habitus


ZNF81_HUMAN Zinc finger protein 81 (sprot)


IGDC3_HUMAN Immunoglobulin superfamily DCC subclass member 3 (sprot)


ZC4H2_HUMAN Zinc finger C4H2 domain-containing protein (sprot)


UBP27_HUMAN Ubiquitin carboxyl-terminal hydrolase 27 (sprot)


intellectual disability, autosomal dominant 1


MTO1_HUMAN Protein MTO1 homolog, mitochondrial (sprot)


CCL13_HUMAN C-C motif chemokine 13 (sprot)


PIGA_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (sprot)


ABHD5_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 (sprot)


oligoarticular juvenile idiopathic arthritis


SDHF3_HUMAN Succinate dehydrogenase assembly factor 3, mitochondrial (sprot)


Charcot-Marie-Tooth disease axonal type 2H


S1PR2_HUMAN Sphingosine 1-phosphate receptor 2 (sprot)


KPCD_HUMAN Protein kinase C delta type (sprot)


ATP5I_HUMAN ATP synthase subunit e, mitochondrial (sprot)


WDR55_HUMAN WD repeat-containing protein 55 (sprot)


ZN331_HUMAN Zinc finger protein 331 (sprot)


CTIP_HUMAN DNA endonuclease RBBP8 (sprot)


FUT4_HUMAN Alpha-(1,3)-fucosyltransferase 4 (sprot)


DDR1_HUMAN Epithelial discoidin domain-containing receptor 1 (sprot)


CD11B_HUMAN Cyclin-dependent kinase 11B (sprot)


BPIA2_HUMAN BPI fold-containing family A member 2 (sprot)


KCC1B_HUMAN Calcium/calmodulin-dependent protein kinase type 1B (sprot)


PTG3L_HUMAN Putative protein PTGES3L (sprot)


glycogen storage disease due to GLUT2 deficiency


FGD6_HUMAN FYVE, RhoGEF and PH domain-containing protein 6 (sprot)


inclusion body myopathy with Paget disease of bone and frontotemporal dementia


AT1B2_HUMAN Sodium/potassium-transporting ATPase subunit beta-2 (sprot)


TSR2_HUMAN Pre-rRNA-processing protein TSR2 homolog (sprot)


S23A1_HUMAN Solute carrier family 23 member 1 (sprot)


GBRB2_HUMAN Gamma-aminobutyric acid receptor subunit beta-2 (sprot)


TRNP1_HUMAN TMF-regulated nuclear protein 1 (sprot)


HIC2_HUMAN Hypermethylated in cancer 2 protein (sprot)


CDK19_HUMAN Cyclin-dependent kinase 19 (sprot)


H2AY_HUMAN Core histone macro-H2A.1 (sprot)


congenital brain dysgenesis due to glutamine synthetase deficiency


T2R16_HUMAN Taste receptor type 2 member 16 (sprot)


ZKSC1_HUMAN Zinc finger protein with KRAB and SCAN domains 1 (sprot)


RND3_HUMAN Rho-related GTP-binding protein RhoE (sprot)


MMAB_HUMAN Corrinoid adenosyltransferase MMAB (sprot)


PKHB2_HUMAN Pleckstrin homology domain-containing family B member 2 (sprot)


RB40C_HUMAN Ras-related protein Rab-40C (sprot)


DEFM_HUMAN Peptide deformylase, mitochondrial (sprot)


BORG5_HUMAN Cdc42 effector protein 1 (sprot)


CDYL_HUMAN Chromodomain Y-like protein (sprot)


GLSK_HUMAN Glutaminase kidney isoform, mitochondrial (sprot)


HS3SA_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 (sprot)


SP100_HUMAN Nuclear autoantigen Sp-100 (sprot)


FANK1_HUMAN Fibronectin type 3 and ankyrin repeat domains protein 1 (sprot)


FBX21_HUMAN F-box only protein 21 (sprot)


TNIK_HUMAN TRAF2 and NCK-interacting protein kinase (sprot)


RL11_HUMAN 60S ribosomal protein L11 (sprot)


thiamine-responsive maple syrup urine disease


XCT_HUMAN Cystine/glutamate transporter (sprot)


NFAC2_HUMAN Nuclear factor of activated T-cells, cytoplasmic 2 (sprot)


UBP1_HUMAN Ubiquitin carboxyl-terminal hydrolase 1 (sprot)


visual impairment and progressive phthisis bulbi


ARI3A_HUMAN AT-rich interactive domain-containing protein 3A (sprot)


PELI1_HUMAN E3 ubiquitin-protein ligase pellino homolog 1 (sprot)


CCG8_HUMAN Voltage-dependent calcium channel gamma-8 subunit (sprot)


SZT2_HUMAN KICSTOR complex protein SZT2 (sprot)


TWST2_HUMAN Twist-related protein 2 (sprot)


SO2A1_HUMAN Solute carrier organic anion transporter family member 2A1 (sprot)


childhood central nervous system germinoma


TRI41_HUMAN E3 ubiquitin-protein ligase TRIM41 (sprot)


CLH2_HUMAN Clathrin heavy chain 2 (sprot)


CLC6A_HUMAN C-type lectin domain family 6 member A (sprot)


LKHA4_HUMAN Leukotriene A-4 hydrolase (sprot)


ADA1A_HUMAN Alpha-1A adrenergic receptor (sprot)


PFKAM_HUMAN ATP-dependent 6-phosphofructokinase, muscle type (sprot)


PD1L1_HUMAN Programmed cell death 1 ligand 1 (sprot)


QSOX2_HUMAN Sulfhydryl oxidase 2 (sprot)


RSAD2_HUMAN Radical S-adenosyl methionine domain-containing protein 2 (sprot)


RHDF1_HUMAN Inactive rhomboid protein 1 (sprot)


BCL6B_HUMAN B-cell CLL/lymphoma 6 member B protein (sprot)


SATT_HUMAN Neutral amino acid transporter A (sprot)


S15A3_HUMAN Solute carrier family 15 member 3 (sprot)


FR1L4_HUMAN Fer-1-like protein 4 (sprot)


DOCK6_HUMAN Dedicator of cytokinesis protein 6 (sprot)


KCJ13_HUMAN Inward rectifier potassium channel 13 (sprot)


PLS4_HUMAN Phospholipid scramblase 4 (sprot)


DSRAD_HUMAN Double-stranded RNA-specific adenosine deaminase (sprot)


SG1D4_HUMAN Secretoglobin family 1D member 4 (sprot)


TBK1_HUMAN Serine/threonine-protein kinase TBK1 (sprot)


E2AK3_HUMAN Eukaryotic translation initiation factor 2-alpha kinase 3 (sprot)


PRDM5_HUMAN PR domain zinc finger protein 5 (sprot)


MIEN1_HUMAN Migration and invasion enhancer 1 (sprot)


NEU1B_HUMAN E3 ubiquitin-protein ligase NEURL1B (sprot)


ACBP_HUMAN Acyl-CoA-binding protein (sprot)


MUTA_HUMAN Methylmalonyl-CoA mutase, mitochondrial (sprot)


maxillary sinus adenoid cystic carcinoma


multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome


OSBL2_HUMAN Oxysterol-binding protein-related protein 2 (sprot)


DLDH_HUMAN Dihydrolipoyl dehydrogenase, mitochondrial (sprot)


ZFP91_HUMAN E3 ubiquitin-protein ligase ZFP91 (sprot)


HG2A_HUMAN HLA class II histocompatibility antigen gamma chain (sprot)


NOL12_HUMAN Nucleolar protein 12 (sprot)


RHG42_HUMAN Rho GTPase-activating protein 42 (sprot)


B3GN8_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 (sprot)


PTH1R_HUMAN Parathyroid hormone/parathyroid hormone-related peptide receptor (sprot)


FSHB_HUMAN Follitropin subunit beta (sprot)


TREF1_HUMAN Transcriptional-regulating factor 1 (sprot)


ARMC2_HUMAN Armadillo repeat-containing protein 2 (sprot)


NLK_HUMAN Serine/threonine-protein kinase NLK (sprot)


PGAP2_HUMAN Post-GPI attachment to proteins factor 2 (sprot)


DCLK3_HUMAN Serine/threonine-protein kinase DCLK3 (sprot)


RBM38_HUMAN RNA-binding protein 38 (sprot)


PRAME_HUMAN Melanoma antigen preferentially expressed in tumors (sprot)


RL3R2_HUMAN Relaxin-3 receptor 2 (sprot)


ACPH_HUMAN Acylamino-acid-releasing enzyme (sprot)


S29A1_HUMAN Equilibrative nucleoside transporter 1 (sprot)


CA052_HUMAN UPF0690 protein C1orf52 (sprot)


KCNH5_HUMAN Potassium voltage-gated channel subfamily H member 5 (sprot)


KCNJ5_HUMAN G protein-activated inward rectifier potassium channel 4 (sprot)


CTL5_HUMAN Choline transporter-like protein 5 (sprot)


G3ST4_HUMAN Galactose-3-O-sulfotransferase 4 (sprot)


TPPP2_HUMAN Tubulin polymerization-promoting protein family member 2 (sprot)


GRID1_HUMAN Glutamate receptor ionotropic, delta-1 (sprot)


PLCD1_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 (sprot)


N4BP1_HUMAN NEDD4-binding protein 1 (sprot)


BHMT1_HUMAN Betaine--homocysteine S-methyltransferase 1 (sprot)


PHLB2_HUMAN Pleckstrin homology-like domain family B member 2 (sprot)


PRP17_HUMAN Pre-mRNA-processing factor 17 (sprot)


RAF1_HUMAN RAF proto-oncogene serine/threonine-protein kinase (sprot)


CADM4_HUMAN Cell adhesion molecule 4 (sprot)


ODAD3_HUMAN Outer dynein arm-docking complex subunit 3 (sprot)


AL1L1_HUMAN Cytosolic 10-formyltetrahydrofolate dehydrogenase (sprot)


WBP11_HUMAN WW domain-binding protein 11 (sprot)


DJC12_HUMAN DnaJ homolog subfamily C member 12 (sprot)


HXD4_HUMAN Homeobox protein Hox-D4 (sprot)


subaortic stenosis-short stature syndrome


RAVR2_HUMAN Ribonucleoprotein PTB-binding 2 (sprot)


HSPB8_HUMAN Heat shock protein beta-8 (sprot)


MBTP2_HUMAN Membrane-bound transcription factor site-2 protease (sprot)


hereditary hyperferritinemia with congenital cataracts


TNFA_HUMAN Tumor necrosis factor (sprot)


SDF2_HUMAN Stromal cell-derived factor 2 (sprot)


CNRP1_HUMAN CB1 cannabinoid receptor-interacting protein 1 (sprot)


PP2BC_HUMAN Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform (sprot)


TM11F_HUMAN Transmembrane protease serine 11F (sprot)


SI1L3_HUMAN Signal-induced proliferation-associated 1-like protein 3 (sprot)


STXB5_HUMAN Syntaxin-binding protein 5 (sprot)


RTL3_HUMAN Retrotransposon Gag-like protein 3 (sprot)


LZTS1_HUMAN Leucine zipper putative tumor suppressor 1 (sprot)


JIP3_HUMAN C-Jun-amino-terminal kinase-interacting protein 3 (sprot)


ACHA4_HUMAN Neuronal acetylcholine receptor subunit alpha-4 (sprot)


PIGQ_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q (sprot)


SERC3_HUMAN Serine incorporator 3 (sprot)


NFKB1_HUMAN Nuclear factor NF-kappa-B p105 subunit (sprot)


ACK1_HUMAN Activated CDC42 kinase 1 (sprot)


CTSR3_HUMAN Cation channel sperm-associated protein 3 (sprot)


FBXW2_HUMAN F-box/WD repeat-containing protein 2 (sprot)


CE152_HUMAN Centrosomal protein of 152 kDa (sprot)


ATAD1_HUMAN Outer mitochondrial transmembrane helix translocase (sprot)


FOXH1_HUMAN Forkhead box protein H1 (sprot)


INHBB_HUMAN Inhibin beta B chain (sprot)


DIP2A_HUMAN Disco-interacting protein 2 homolog A (sprot)


NPY1R_HUMAN Neuropeptide Y receptor type 1 (sprot)


VP13C_HUMAN Intermembrane lipid transfer protein VPS13C (sprot)


SPPL3_HUMAN Signal peptide peptidase-like 3 (sprot)


BL1S5_HUMAN Biogenesis of lysosome-related organelles complex 1 subunit 5 (sprot)


HDGR2_HUMAN Hepatoma-derived growth factor-related protein 2 (sprot)


PLAL2_HUMAN Zinc finger protein PLAGL2 (sprot)


CDHR2_HUMAN Cadherin-related family member 2 (sprot)


STK31_HUMAN Serine/threonine-protein kinase 31 (sprot)


CAMP_HUMAN Cathelicidin antimicrobial peptide (sprot)


SH2B3_HUMAN SH2B adapter protein 3 (sprot)


SC24B_HUMAN Protein transport protein Sec24B (sprot)


VPP2_HUMAN V-type proton ATPase 116 kDa subunit a 2 (sprot)


northern bluefin tuna allergenic extract


ODFP1_HUMAN Outer dense fiber protein 1 (sprot)


hereditary sensory and autonomic neuropathy


SRPX2_HUMAN Sushi repeat-containing protein SRPX2 (sprot)


CCL16_HUMAN C-C motif chemokine 16 (sprot)


RGRF1_HUMAN Ras-specific guanine nucleotide-releasing factor 1 (sprot)


KIF15_HUMAN Kinesin-like protein KIF15 (sprot)


BMP15_HUMAN Bone morphogenetic protein 15 (sprot)


ABCF2_HUMAN ATP-binding cassette sub-family F member 2 (sprot)


RDH13_HUMAN Retinol dehydrogenase 13 (sprot)


ELP1_HUMAN Elongator complex protein 1 (sprot)


AKAP9_HUMAN A-kinase anchor protein 9 (sprot)


TTP_HUMAN mRNA decay activator protein ZFP36 (sprot)


GEMI2_HUMAN Gem-associated protein 2 (sprot)


autosomal dominant Charcot-Marie-Tooth disease type 2K


NUDT3_HUMAN Diphosphoinositol polyphosphate phosphohydrolase 1 (sprot)


TCPE_HUMAN T-complex protein 1 subunit epsilon (sprot)


ANS4B_HUMAN Ankyrin repeat and SAM domain-containing protein 4B (sprot)


RRAGC_HUMAN Ras-related GTP-binding protein C (sprot)


TNR12_HUMAN Tumor necrosis factor receptor superfamily member 12A (sprot)


ASIC4_HUMAN Acid-sensing ion channel 4 (sprot)


(9-(N-(3-Morpholinopropyl)-sulfonyl)-5,6-dihydro-5-oxo-11-H-indeno (1,2-C) isoquinoline methanesulfonic acid


TM108_HUMAN Transmembrane protein 108 (sprot)


SGK2_HUMAN Serine/threonine-protein kinase Sgk2 (sprot)


LMO4_HUMAN LIM domain transcription factor LMO4 (sprot)


AKD1A_HUMAN Ankyrin repeat and death domain-containing protein 1A (sprot)


AP1S2_HUMAN AP-1 complex subunit sigma-2 (sprot)


PPARA_HUMAN Peroxisome proliferator-activated receptor alpha (sprot)


STRAA_HUMAN STE20-related kinase adapter protein alpha (sprot)


UMPS_HUMAN Uridine 5'-monophosphate synthase (sprot)


PGH1_HUMAN Prostaglandin G/H synthase 1 (sprot)


SEHL2_HUMAN Serine hydrolase-like protein 2 (sprot)


GPI8_HUMAN GPI-anchor transamidase (sprot)


PLA1A_HUMAN Phospholipase A1 member A (sprot)


FOXN1_HUMAN Forkhead box protein N1 (sprot)


ZN516_HUMAN Zinc finger protein 516 (sprot)


TMM17_HUMAN Transmembrane protein 17 (sprot)


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


ACBD5_HUMAN Acyl-CoA-binding domain-containing protein 5 (sprot)


AUP1_HUMAN Lipid droplet-regulating VLDL assembly factor AUP1 (sprot)


refractory anemia with excess blasts in transformation


PGAM4_HUMAN Probable phosphoglycerate mutase 4 (sprot)


FBX32_HUMAN F-box only protein 32 (sprot)


RAVR1_HUMAN Ribonucleoprotein PTB-binding 1 (sprot)


ADAT2_HUMAN tRNA-specific adenosine deaminase 2 (sprot)


KIN17_HUMAN DNA/RNA-binding protein KIN17 (sprot)


LRC4C_HUMAN Leucine-rich repeat-containing protein 4C (sprot)


CRTC3_HUMAN CREB-regulated transcription coactivator 3 (sprot)


DCTP1_HUMAN dCTP pyrophosphatase 1 (sprot)


AMYP_HUMAN Pancreatic alpha-amylase (sprot)


ASH1L_HUMAN Histone-lysine N-methyltransferase ASH1L (sprot)


CPS4L_HUMAN Putative cleavage and polyadenylation specificity factor subunit 4-like protein (sprot)


HMGB4_HUMAN High mobility group protein B4 (sprot)


B4GT1_HUMAN Beta-1,4-galactosyltransferase 1 (sprot)


UPP2_HUMAN Uridine phosphorylase 2 (sprot)


SPY3_HUMAN Protein sprouty homolog 3 (sprot)


KCNKD_HUMAN Potassium channel subfamily K member 13 (sprot)


ZSCA4_HUMAN Zinc finger and SCAN domain-containing protein 4 (sprot)


TREM1_HUMAN Triggering receptor expressed on myeloid cells 1 (sprot)


CNPY3_HUMAN Protein canopy homolog 3 (sprot)


MB212_HUMAN Protein mab-21-like 2 (sprot)


MYLK2_HUMAN Myosin light chain kinase 2, skeletal/cardiac muscle (sprot)


ABCG2_HUMAN Broad substrate specificity ATP-binding cassette transporter ABCG2 (sprot)


multisystemic smooth muscle dysfunction syndrome


DUS4L_HUMAN tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like (sprot)


ZIC1_HUMAN Zinc finger protein ZIC 1 (sprot)


CLC4A_HUMAN C-type lectin domain family 4 member A (sprot)


SOX7_HUMAN Transcription factor SOX-7 (sprot)


UBP26_HUMAN Ubiquitin carboxyl-terminal hydrolase 26 (sprot)


EXOS8_HUMAN Exosome complex component RRP43 (sprot)


EHMT1_HUMAN Histone-lysine N-methyltransferase EHMT1 (sprot)


TWSG1_HUMAN Twisted gastrulation protein homolog 1 (sprot)


COX5B_HUMAN Cytochrome c oxidase subunit 5B, mitochondrial (sprot)


SOX1_HUMAN Transcription factor SOX-1 (sprot)


S47A2_HUMAN Multidrug and toxin extrusion protein 2 (sprot)


ARRD3_HUMAN Arrestin domain-containing protein 3 (sprot)


G3P_HUMAN Glyceraldehyde-3-phosphate dehydrogenase (sprot)


GSHR_HUMAN Glutathione reductase, mitochondrial (sprot)


CMYA5_HUMAN Cardiomyopathy-associated protein 5 (sprot)


RIOX1_HUMAN Ribosomal oxygenase 1 (sprot)


ETAA1_HUMAN Ewing's tumor-associated antigen 1 (sprot)


GRTP1_HUMAN Growth hormone-regulated TBC protein 1 (sprot)


MED7_HUMAN Mediator of RNA polymerase II transcription subunit 7 (sprot)


DDB1_HUMAN DNA damage-binding protein 1 (sprot)


NCAM1_HUMAN Neural cell adhesion molecule 1 (sprot)


WDR5_HUMAN WD repeat-containing protein 5 (sprot)


ITM2C_HUMAN Integral membrane protein 2C (sprot)


PWP2_HUMAN Periodic tryptophan protein 2 homolog (sprot)


cutaneous T-cell lymphoma-associated antigen 1 isoform 2 (human)


PLA2R_HUMAN Secretory phospholipase A2 receptor (sprot)


RIP_HUMAN RPA-interacting protein (sprot)


CHSTB_HUMAN Carbohydrate sulfotransferase 11 (sprot)


TRIP4_HUMAN Activating signal cointegrator 1 (sprot)


RM37_HUMAN 39S ribosomal protein L37, mitochondrial (sprot)


TRMO_HUMAN tRNA (adenine(37)-N6)-methyltransferase (sprot)


DCE1_HUMAN Glutamate decarboxylase 1 (sprot)


MNS1_HUMAN Meiosis-specific nuclear structural protein 1 (sprot)


SPY2_HUMAN Protein sprouty homolog 2 (sprot)


SFRP3_HUMAN Secreted frizzled-related protein 3 (sprot)


K2C3_HUMAN Keratin, type II cytoskeletal 3 (sprot)


AT5G2_HUMAN ATP synthase F(0) complex subunit C2, mitochondrial (sprot)


recurrent infections associated with rare immunoglobulin isotypes deficiency


PGP_HUMAN Glycerol-3-phosphate phosphatase (sprot)


IGFN1_HUMAN Immunoglobulin-like and fibronectin type III domain-containing protein 1 (sprot)


SIA10_HUMAN Type 2 lactosamine alpha-2,3-sialyltransferase (sprot)


frontonasal dysplasia with alopecia and genital anomaly


LYPD6_HUMAN Ly6/PLAUR domain-containing protein 6 (sprot)


POTEE_HUMAN POTE ankyrin domain family member E (sprot)


CO1A1_HUMAN Collagen alpha-1(I) chain (sprot)


NOC3L_HUMAN Nucleolar complex protein 3 homolog (sprot)


RAIN_HUMAN Ras-interacting protein 1 (sprot)


SI1L1_HUMAN Signal-induced proliferation-associated 1-like protein 1 (sprot)


LAMP3_HUMAN Lysosome-associated membrane glycoprotein 3 (sprot)


T191B_HUMAN Transmembrane protein 191B (sprot)


CRX_HUMAN Cone-rod homeobox protein (sprot)


TMCO1_HUMAN Calcium load-activated calcium channel (sprot)


COE3_HUMAN Transcription factor COE3 (sprot)


MAD3_HUMAN Max dimerization protein 3 (sprot)


LR75A_HUMAN Leucine-rich repeat-containing protein 75A (sprot)


RHG06_HUMAN Rho GTPase-activating protein 6 (sprot)


SMRD3_HUMAN SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 (sprot)


THTR_HUMAN Thiosulfate sulfurtransferase (sprot)


IGFL1_HUMAN Insulin growth factor-like family member 1 (sprot)


LNX1_HUMAN E3 ubiquitin-protein ligase LNX (sprot)


CAR10_HUMAN Caspase recruitment domain-containing protein 10 (sprot)


cholesterol-ester transfer protein deficiency


NWD1_HUMAN NACHT domain- and WD repeat-containing protein 1 (sprot)


CD37_HUMAN Leukocyte antigen CD37 (sprot)


DHX36_HUMAN ATP-dependent DNA/RNA helicase DHX36 (sprot)


acquired idiopathic inflammatory myopathy


SIA8F_HUMAN Alpha-2,8-sialyltransferase 8F (sprot)


S35A2_HUMAN UDP-galactose translocator (sprot)


NPT2C_HUMAN Sodium-dependent phosphate transport protein 2C (sprot)


PLGT3_HUMAN Protein O-glucosyltransferase 3 (sprot)


PA24F_HUMAN Cytosolic phospholipase A2 zeta (sprot)


LIPG_HUMAN Gastric triacylglycerol lipase (sprot)


TIMP2_HUMAN Metalloproteinase inhibitor 2 (sprot)


PRPS2_HUMAN Ribose-phosphate pyrophosphokinase 2 (sprot)


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


TCAL7_HUMAN Transcription elongation factor A protein-like 7 (sprot)


ATPF2_HUMAN ATP synthase mitochondrial F1 complex assembly factor 2 (sprot)


NCBP1_HUMAN Nuclear cap-binding protein subunit 1 (sprot)


OSBP1_HUMAN Oxysterol-binding protein 1 (sprot)


LRC4B_HUMAN Leucine-rich repeat-containing protein 4B (sprot)


PATZ1_HUMAN POZ-, AT hook-, and zinc finger-containing protein 1 (sprot)


EMX2_HUMAN Homeobox protein EMX2 (sprot)


HS90A_HUMAN Heat shock protein HSP 90-alpha (sprot)


colon mucosa-associated lymphoid tissue lymphoma


S43A3_HUMAN Equilibrative nucleobase transporter 1 (sprot)


PBIR1_HUMAN PPP2R1A-PPP2R2A-interacting phosphatase regulator 1 (sprot)


DHX16_HUMAN Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 (sprot)


ARLY_HUMAN Argininosuccinate lyase (sprot)


PSF1_HUMAN DNA replication complex GINS protein PSF1 (sprot)


TRAM2_HUMAN Translocating chain-associated membrane protein 2 (sprot)


MMP24_HUMAN Matrix metalloproteinase-24 (sprot)


ZC21A_HUMAN Zinc finger C2HC domain-containing protein 1A (sprot)


VPP4_HUMAN V-type proton ATPase 116 kDa subunit a 4 (sprot)


QCR7_HUMAN Cytochrome b-c1 complex subunit 7 (sprot)


DDX42_HUMAN ATP-dependent RNA helicase DDX42 (sprot)


MET7A_HUMAN Putative methyltransferase-like protein 7A (sprot)


SLTM_HUMAN SAFB-like transcription modulator (sprot)


LMTK2_HUMAN Serine/threonine-protein kinase LMTK2 (sprot)


KIF3A_HUMAN Kinesin-like protein KIF3A (sprot)


SDSL_HUMAN Serine dehydratase-like (sprot)


RGMA_HUMAN Repulsive guidance molecule A (sprot)


USO1_HUMAN General vesicular transport factor p115 (sprot)


KLF13_HUMAN Krueppel-like factor 13 (sprot)


MPP2_HUMAN MAGUK p55 subfamily member 2 (sprot)


TNIP2_HUMAN TNFAIP3-interacting protein 2 (sprot)


SEM1_HUMAN 26S proteasome complex subunit SEM1 (sprot)


COQ5_HUMAN 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial (sprot)


ARP10_HUMAN Actin-related protein 10 (sprot)


RN121_HUMAN RING finger protein 121 (sprot)


MARH9_HUMAN E3 ubiquitin-protein ligase MARCHF9 (sprot)


VMAT2_HUMAN Synaptic vesicular amine transporter (sprot)


LHX1_HUMAN LIM/homeobox protein Lhx1 (sprot)


growth hormone-producing pituitary gland adenoma


ERG1_HUMAN Squalene monooxygenase (sprot)


PNRC2_HUMAN Proline-rich nuclear receptor coactivator 2 (sprot)


autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome


RFPL3_HUMAN Ret finger protein-like 3 (sprot)


CO4A1_HUMAN Collagen alpha-1(IV) chain (sprot)


autosomal recessive nonsyndromic hearing loss 12


NCK2_HUMAN Cytoplasmic protein NCK2 (sprot)


partial deletion of the long arm of chromosome 7


EI2BG_HUMAN Translation initiation factor eIF-2B subunit gamma (sprot)


CPSF6_HUMAN Cleavage and polyadenylation specificity factor subunit 6 (sprot)


T161B_HUMAN Transmembrane protein 161B (sprot)


AGRE2_HUMAN Adhesion G protein-coupled receptor E2 (sprot)


FRM4B_HUMAN FERM domain-containing protein 4B (sprot)


HNRPF_HUMAN Heterogeneous nuclear ribonucleoprotein F (sprot)


cone dystrophy with supernormal rod response


HLAB_HUMAN HLA class I histocompatibility antigen, B alpha chain (sprot)


LMBL1_HUMAN Lethal(3)malignant brain tumor-like protein 1 (sprot)


ECP_HUMAN Eosinophil cationic protein (sprot)


INPP_HUMAN Inositol polyphosphate 1-phosphatase (sprot)


HPCL1_HUMAN Hippocalcin-like protein 1 (sprot)


OZF_HUMAN Zinc finger protein OZF (sprot)


MYZAP_HUMAN Myocardial zonula adherens protein (sprot)


OGDHL_HUMAN 2-oxoglutarate dehydrogenase-like, mitochondrial (sprot)


LN28A_HUMAN Protein lin-28 homolog A (sprot)


XBP1_HUMAN X-box-binding protein 1 (sprot)


RCC1_HUMAN Regulator of chromosome condensation (sprot)


IL31R_HUMAN Interleukin-31 receptor subunit alpha (sprot)


AL5AP_HUMAN Arachidonate 5-lipoxygenase-activating protein (sprot)


ELMD1_HUMAN ELMO domain-containing protein 1 (sprot)


RHG10_HUMAN Rho GTPase-activating protein 10 (sprot)


EF1G_HUMAN Elongation factor 1-gamma (sprot)


BPIA1_HUMAN BPI fold-containing family A member 1 (sprot)


OPRD_HUMAN Delta-type opioid receptor (sprot)


KCNKG_HUMAN Potassium channel subfamily K member 16 (sprot)


S22A4_HUMAN Solute carrier family 22 member 4 (sprot)


GBX2_HUMAN Homeobox protein GBX-2 (sprot)


IRX6_HUMAN Iroquois-class homeodomain protein IRX-6 (sprot)


ROGDI_HUMAN Protein rogdi homolog (sprot)


TYOBP_HUMAN TYRO protein tyrosine kinase-binding protein (sprot)


GLRA3_HUMAN Glycine receptor subunit alpha-3 (sprot)


ZBTB5_HUMAN Zinc finger and BTB domain-containing protein 5 (sprot)


CHP2_HUMAN Calcineurin B homologous protein 2 (sprot)


F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 (sprot)


KDM1A_HUMAN Lysine-specific histone demethylase 1A (sprot)


KCA10_HUMAN Potassium voltage-gated channel subfamily A member 10 (sprot)


LIRB3_HUMAN Leukocyte immunoglobulin-like receptor subfamily B member 3 (sprot)


GLCI1_HUMAN Glucocorticoid-induced transcript 1 protein (sprot)


low grade fibromyxoid sarcoma with giant collagen rosettes


WIPI2_HUMAN WD repeat domain phosphoinositide-interacting protein 2 (sprot)


STK36_HUMAN Serine/threonine-protein kinase 36 (sprot)


CEGT_HUMAN Ceramide glucosyltransferase (sprot)


FOLR1_HUMAN Folate receptor alpha (sprot)


GBA2_HUMAN Non-lysosomal glucosylceramidase (sprot)


GRAP_HUMAN GRB2-related adapter protein (sprot)


PAIP2_HUMAN Polyadenylate-binding protein-interacting protein 2 (sprot)


AL1B1_HUMAN Aldehyde dehydrogenase X, mitochondrial (sprot)


IHO1_HUMAN Interactor of HORMAD1 protein 1 (sprot)


MMP8_HUMAN Neutrophil collagenase (sprot)


gingival fibromatosis-progressive deafness syndrome


WSB2_HUMAN WD repeat and SOCS box-containing protein 2 (sprot)


SARDH_HUMAN Sarcosine dehydrogenase, mitochondrial (sprot)


TTBK1_HUMAN Tau-tubulin kinase 1 (sprot)


UBXN8_HUMAN UBX domain-containing protein 8 (sprot)


TBCD7_HUMAN TBC1 domain family member 7 (sprot)


PZRN4_HUMAN PDZ domain-containing RING finger protein 4 (sprot)


autosomal recessive nonsyndromic hearing loss 26


SC61G_HUMAN Protein transport protein Sec61 subunit gamma (sprot)


CO1A2_HUMAN Collagen alpha-2(I) chain (sprot)


CITE2_HUMAN Cbp/p300-interacting transactivator 2 (sprot)


ANR37_HUMAN Ankyrin repeat domain-containing protein 37 (sprot)


NUP93_HUMAN Nuclear pore complex protein Nup93 (sprot)


TAU_HUMAN Microtubule-associated protein tau (sprot)


AT11C_HUMAN Phospholipid-transporting ATPase IG (sprot)


OGR1_HUMAN Ovarian cancer G-protein coupled receptor 1 (sprot)


SYEM_HUMAN Probable glutamate--tRNA ligase, mitochondrial (sprot)


ANR44_HUMAN Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B (sprot)


FCGRN_HUMAN IgG receptor FcRn large subunit p51 (sprot)


K1C27_HUMAN Keratin, type I cytoskeletal 27 (sprot)


NMUR2_HUMAN Neuromedin-U receptor 2 (sprot)


SC24C_HUMAN Protein transport protein Sec24C (sprot)


autosomal recessive spinocerebellar ataxia 20


SPCS1_HUMAN Signal peptidase complex subunit 1 (sprot)


FNIP1_HUMAN Folliculin-interacting protein 1 (sprot)


NFM_HUMAN Neurofilament medium polypeptide (sprot)


PAF1_HUMAN RNA polymerase II-associated factor 1 homolog (sprot)


autosomal recessive ataxia due to ubiquinone deficiency


MAP1B_HUMAN Microtubule-associated protein 1B (sprot)


ADAD1_HUMAN Adenosine deaminase domain-containing protein 1 (sprot)


FXRD2_HUMAN FAD-dependent oxidoreductase domain-containing protein 2 (sprot)


IL7RA_HUMAN Interleukin-7 receptor subunit alpha (sprot)


ASCL4_HUMAN Achaete-scute homolog 4 (sprot)


AVL9_HUMAN Late secretory pathway protein AVL9 homolog (sprot)


P5I11_HUMAN Tumor protein p53-inducible protein 11 (sprot)


ARFG3_HUMAN ADP-ribosylation factor GTPase-activating protein 3 (sprot)


CEL3B_HUMAN Chymotrypsin-like elastase family member 3B (sprot)


FDSCP_HUMAN Follicular dendritic cell secreted peptide (sprot)


WDR4_HUMAN tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 (sprot)


RSF1_HUMAN Remodeling and spacing factor 1 (sprot)


DHB14_HUMAN 17-beta-hydroxysteroid dehydrogenase 14 (sprot)


BTBD3_HUMAN BTB/POZ domain-containing protein 3 (sprot)


WIPI3_HUMAN WD repeat domain phosphoinositide-interacting protein 3 (sprot)


CXCR4_HUMAN C-X-C chemokine receptor type 4 (sprot)


SPT19_HUMAN Spermatogenesis-associated protein 19, mitochondrial (sprot)


NUDT4_HUMAN Diphosphoinositol polyphosphate phosphohydrolase 2 (sprot)


ANKL2_HUMAN Ankyrin repeat and LEM domain-containing protein 2 (sprot)


OBRG_HUMAN Leptin receptor gene-related protein (sprot)


POTED_HUMAN POTE ankyrin domain family member D (sprot)


OAS3_HUMAN 2'-5'-oligoadenylate synthase 3 (sprot)


PO4F1_HUMAN POU domain, class 4, transcription factor 1 (sprot)


DDX23_HUMAN Probable ATP-dependent RNA helicase DDX23 (sprot)


SSBP3_HUMAN Single-stranded DNA-binding protein 3 (sprot)


AL1A1_HUMAN Aldehyde dehydrogenase 1A1 (sprot)


PR40B_HUMAN Pre-mRNA-processing factor 40 homolog B (sprot)


PG2IP_HUMAN PGAP2-interacting protein (sprot)


KCNA1_HUMAN Potassium voltage-gated channel subfamily A member 1 (sprot)


FMNL3_HUMAN Formin-like protein 3 (sprot)


CGRF1_HUMAN Cell growth regulator with RING finger domain protein 1 (sprot)


AAA1_HUMAN Asc-type amino acid transporter 1 (sprot)


MOCOS_HUMAN Molybdenum cofactor sulfurase (sprot)


CDS1_HUMAN Phosphatidate cytidylyltransferase 1 (sprot)


NMBR_HUMAN Neuromedin-B receptor (sprot)


TCF7_HUMAN Transcription factor 7 (sprot)


NUD10_HUMAN Diphosphoinositol polyphosphate phosphohydrolase 3-alpha (sprot)


FOXD1_HUMAN Forkhead box protein D1 (sprot)


SH3BG_HUMAN SH3 domain-binding glutamic acid-rich protein (sprot)


CHC10_HUMAN Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial (sprot)


ASB1_HUMAN Ankyrin repeat and SOCS box protein 1 (sprot)


ARK73_HUMAN Aflatoxin B1 aldehyde reductase member 3 (sprot)


ERCC6_HUMAN DNA excision repair protein ERCC-6 (sprot)


DRA_HUMAN HLA class II histocompatibility antigen, DR alpha chain (sprot)


HRH3_HUMAN Histamine H3 receptor (sprot)


CEAM7_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 7 (sprot)


MFS11_HUMAN UNC93-like protein MFSD11 (sprot)


NDKB_HUMAN Nucleoside diphosphate kinase B (sprot)


HXA6_HUMAN Homeobox protein Hox-A6 (sprot)


NAA50_HUMAN N-alpha-acetyltransferase 50 (sprot)


MAD4_HUMAN Max dimerization protein 4 (sprot)


IL5RA_HUMAN Interleukin-5 receptor subunit alpha (sprot)


PFKAL_HUMAN ATP-dependent 6-phosphofructokinase, liver type (sprot)


SPIC_HUMAN Transcription factor Spi-C (sprot)


KLDC2_HUMAN Kelch domain-containing protein 2 (sprot)


PAR12_HUMAN Protein mono-ADP-ribosyltransferase PARP12 (sprot)


U3IP2_HUMAN U3 small nucleolar RNA-interacting protein 2 (sprot)


BMP8B_HUMAN Bone morphogenetic protein 8B (sprot)


PLPR3_HUMAN Phospholipid phosphatase-related protein type 3 (sprot)


NAR1_HUMAN GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1 (sprot)


DJC21_HUMAN DnaJ homolog subfamily C member 21 (sprot)


TNF14_HUMAN Tumor necrosis factor ligand superfamily member 14 (sprot)


NDUS3_HUMAN NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial (sprot)


mucinous tubular and spindle renal cell carcinoma


CP110_HUMAN Centriolar coiled-coil protein of 110 kDa (sprot)


ZN644_HUMAN Zinc finger protein 644 (sprot)


FOXO4_HUMAN Forkhead box protein O4 (sprot)


AKP13_HUMAN A-kinase anchor protein 13 (sprot)


synchronous multifocal osteogenic sarcoma


MED10_HUMAN Mediator of RNA polymerase II transcription subunit 10 (sprot)


TFR1_HUMAN Transferrin receptor protein 1 (sprot)


KDM4B_HUMAN Lysine-specific demethylase 4B (sprot)


SPDEF_HUMAN SAM pointed domain-containing Ets transcription factor (sprot)


NFAC3_HUMAN Nuclear factor of activated T-cells, cytoplasmic 3 (sprot)


ANR22_HUMAN Ankyrin repeat domain-containing protein 22 (sprot)


X-linked intellectual disability, Cabezas type


ACL7B_HUMAN Actin-like protein 7B (sprot)