Gene: COQ8A ×
Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		0.900 GeneticVariation disease 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 		0.900 GeneticVariation disease UNIPROT ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 27106809 2016
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		0.900 GeneticVariation disease UNIPROT Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. 25498144 2015
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		0.900 GeneticVariation disease 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 		0.900 GeneticVariation disease 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 		0.900 GeneticVariation disease UNIPROT Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 22036850 2012
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		0.900 GeneticVariation disease UNIPROT Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. 20580948 2010
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		0.900 GeneticVariation disease 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 		0.900 GeneticVariation disease UNIPROT CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072 2008