Cerebellar Ataxia Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A cerebellar disease characterized by ataxia originating in the cerebellum. (Human Disease Ontology, DOID_0050753)
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Genes

23 genes associated with the Cerebellar Ataxia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
ATXN8 ataxin 8
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CEP290 centrosomal protein 290kDa
FMR1 fragile X mental retardation 1
FRAXA fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)
FXN frataxin
HTT huntingtin
LMNB1 lamin B1
NPHP1 nephronophthisis 1 (juvenile)
PDYN prodynorphin
PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
SACS sacsin molecular chaperone
SETX senataxin
SYNE1 spectrin repeat containing, nuclear envelope 1
TBP TATA box binding protein
TGM6 transglutaminase 6