Chorea Acanthocytosis Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0393576
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Genes

29 genes associated with the disease Chorea Acanthocytosis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ATXN3 ataxin 3
ATXN7 ataxin 7
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CRP C-reactive protein, pentraxin-related
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2)
EPHB1 EPH receptor B1
ERAL1 Era-like 12S mitochondrial rRNA chaperone 1
ESR1 estrogen receptor 1
GCH1 GTP cyclohydrolase 1
JPH3 junctophilin 3
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNA6 potassium channel, voltage gated shaker related subfamily A, member 6
ORAI1 ORAI calcium release-activated calcium modulator 1
PANK2 pantothenate kinase 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
STIM1 stromal interaction molecule 1
TAC1 tachykinin, precursor 1
TBP TATA box binding protein
TRAP triiodothyronine receptor auxiliary protein
VAMP8 vesicle-associated membrane protein 8
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
XK X-linked Kx blood group