COQ8A, coenzyme Q8A, 56997

N. diseases: 64; N. variants: 40
Disease: Cerebellar Ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771578775
rs771578775
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C0007758
Disease:
Cerebellar Ataxia 		0.020 GeneticVariation BEFREE A mutation in the ADCK3/Coq8 gene (R347X) was identified in a female patient with ataxia, seizures and markedly reduced COQ10 levels. 21873089 2012
dbSNP: rs771578775
rs771578775
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C0007758
Disease:
Cerebellar Ataxia 		0.020 GeneticVariation BEFREE We found no evidence of a Dutch founder for the c.1042C>T mutation in AR ataxia. 20580948 2010