Source: UNIPROT

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 UNIPROT Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. 26818466

2016
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation UNIPROT ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 27106809

2016
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation UNIPROT Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. 25498144

2015
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation UNIPROT Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. 24218524

2014
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation UNIPROT Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability. 24048965

2014
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. 20580948

2010
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation UNIPROT 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 UNIPROT CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072

2008