Gene: COQ8A ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145034527
rs145034527
COQ8A
0.800 GeneticVariation UNIPROT ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 27106809

2016
dbSNP: rs145034527
rs145034527
COQ8A
0.800 GeneticVariation UNIPROT Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. 26818466

2016
dbSNP: rs201908721
rs201908721
COQ8A
0.800 GeneticVariation UNIPROT Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. 26818466

2016
dbSNP: rs201908721
rs201908721
COQ8A
0.800 GeneticVariation UNIPROT ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 27106809

2016
dbSNP: rs145034527
rs145034527
COQ8A
0.800 GeneticVariation UNIPROT Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. 25498144

2015
dbSNP: rs201908721
rs201908721
COQ8A
0.800 GeneticVariation UNIPROT Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. 25498144

2015
dbSNP: rs145034527
rs145034527
COQ8A
0.800 GeneticVariation UNIPROT Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. 24218524

2014
dbSNP: rs145034527
rs145034527
COQ8A
0.800 GeneticVariation UNIPROT Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability. 24048965

2014
dbSNP: rs201908721
rs201908721
COQ8A
0.800 GeneticVariation UNIPROT Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability. 24048965

2014
dbSNP: rs201908721
rs201908721
COQ8A
0.800 GeneticVariation UNIPROT Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. 24218524

2014
dbSNP: rs145034527
rs145034527
COQ8A
0.800 GeneticVariation UNIPROT Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 22036850

2012
dbSNP: rs201908721
rs201908721
COQ8A
0.800 GeneticVariation UNIPROT Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 22036850

2012
dbSNP: rs145034527
rs145034527
COQ8A
0.800 GeneticVariation UNIPROT Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. 20580948

2010
dbSNP: rs201908721
rs201908721
COQ8A
0.800 GeneticVariation UNIPROT Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. 20580948

2010
dbSNP: rs145034527
rs145034527
COQ8A
0.800 GeneticVariation UNIPROT ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074

2008
dbSNP: rs145034527
rs145034527
COQ8A
0.800 GeneticVariation UNIPROT CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072

2008
dbSNP: rs201908721
rs201908721
COQ8A
0.800 GeneticVariation UNIPROT CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072

2008
dbSNP: rs201908721
rs201908721
COQ8A
0.800 GeneticVariation UNIPROT ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074

2008
dbSNP: rs144147839
rs144147839
COQ8A
0.700 GeneticVariation UNIPROT ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 27106809

2016
dbSNP: rs144147839
rs144147839
COQ8A
0.700 GeneticVariation UNIPROT Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. 26818466

2016
dbSNP: rs61995958
rs61995958
COQ8A
0.700 GeneticVariation UNIPROT ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 27106809

2016
dbSNP: rs61995958
rs61995958
COQ8A
0.700 GeneticVariation UNIPROT Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. 26818466

2016
dbSNP: rs778798354
rs778798354
COQ8A
0.700 GeneticVariation UNIPROT Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. 26818466

2016
dbSNP: rs778798354
rs778798354
COQ8A
0.700 GeneticVariation UNIPROT ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 27106809

2016
dbSNP: rs144147839
rs144147839
COQ8A
0.700 GeneticVariation UNIPROT Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. 25498144

2015