Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation CLINVAR Mitochondrial pathology in progressive cerebellar ataxia. 26640698

2015
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation CLINVAR Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. 24164873

2013
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 CausalMutation CLINVAR Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. 24164873

2013
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation CLINVAR Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 22036850

2012
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 CausalMutation CLINVAR CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072

2008
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 CausalMutation CLINVAR ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074

2008
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation CLINVAR ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074

2008