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SACS |
sacsin molecular chaperone |
ARSACS, DKFZp686B15167, DNAJC29, KIAA0730, PPP1R138, SPAX6, protein phosphatase 1, regulatory subunit 138 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, SwissProt |
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F12 |
coagulation factor XII |
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Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
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COX4I2 |
cytochrome c oxidase subunit 4I2 |
COX4-2, COX4B, COXIV-2, cytochrome c oxidase subunit IV-like 2, dJ857M17.2 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, SwissProt |
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ABCC2 |
ATP binding cassette subfamily C member 2 |
DJS, MRP2, cMRP |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
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SLC19A3 |
solute carrier family 19 member 3 |
THTR2, thiamine transporter 2 |
Orphanet, SwissProt, Ensembl, Genatlas, HGNC, OMIM, Reactome |
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IL12B |
interleukin 12B |
CLMF, CLMF2, IL-12B, IL12, subunit p40, NKSF, cytotoxic lymphocyte maturation factor 2, p40, interleukin 12, p40, interleukin-12 beta chain, natural killer cell stimulatory factor, 40 kD subunit, natural killer cell stimulatory factor-2 |
Orphanet, Reactome, Genatlas, HGNC, OMIM, SwissProt, Ensembl |
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MLX |
MAX dimerization protein MLX |
MAD7, MXD7, bHLHd13 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
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KCNA1 |
potassium voltage-gated channel subfamily A member 1 |
HUK1, Kv1.1, MBK1, RBK1 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
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ETV6 |
ETS variant transcription factor 6 |
TEL, TEL oncogene |
Orphanet, Reactome, Ensembl, Genatlas, HGNC, OMIM, SwissProt |
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NTRK3 |
neurotrophic receptor tyrosine kinase 3 |
TRKC |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, SwissProt, Reactome |
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WFS1 |
wolframin ER transmembrane glycoprotein |
DIDMOAD, WFS |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
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CISD2 |
CDGSH iron sulfur domain 2 |
ERIS, Miner1, NAF-1, endoplasmic reticulum intermembrane small protein, mitoNEET related 1, nutrient-deprivation autophagy factor-1 |
Orphanet, Reactome, Ensembl, Genatlas, HGNC, OMIM, SwissProt |
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HTRA1 |
HtrA serine peptidase 1 |
ARMD7, HtrA, IGFBP5-protease |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, SwissProt, Reactome |
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PRNP |
prion protein |
AltPrP, CD230, Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, PRP, fatal familial insomnia, p27-30 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
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PLA2G6 |
phospholipase A2 group VI |
NBIA2, Neurodegeneration with brain iron accumulation 2, PARK14, PNPLA9, iPLA2, iPLA2beta, neurodegeneration with brain iron accumulation 2 |
Orphanet, Genatlas, HGNC, OMIM, Reactome, SwissProt, Ensembl |
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BCO1 |
beta-carotene oxygenase 1 |
BCMO, FLJ10730 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
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GCH1 |
GTP cyclohydrolase 1 |
DYT5a, GTP cyclohydrolase I, GTPCH1, dopa-responsive dystonia |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
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FCGR2C |
Fc gamma receptor IIc (gene/pseudogene) |
CD32C, Fc gamma receptor IIc, hFcRII-C |
Orphanet, HGNC, SwissProt, Ensembl, OMIM, Genatlas |
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CHRNA7 |
cholinergic receptor nicotinic alpha 7 subunit |
acetylcholine receptor, nicotinic, alpha 7 (neuronal) |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
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GP1BA |
glycoprotein Ib platelet subunit alpha |
CD42b, GPIbalpha, platelet glycoprotein Ib alpha chain |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |