COQ8A, coenzyme Q8A, 56997

N. diseases: 64; N. variants: 40
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41303129
rs41303129
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		T 0.700 CausalMutation CLINVAR ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074 2008