COQ8A, coenzyme Q8A, 56997

N. diseases: 64; N. variants: 40
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61995958
rs61995958
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		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
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 GeneticVariation UNIPROT ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 27106809 2016
dbSNP: rs61995958
rs61995958
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 GeneticVariation UNIPROT Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. 25498144 2015
dbSNP: rs61995958
rs61995958
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 GeneticVariation UNIPROT Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability. 24048965 2014
dbSNP: rs61995958
rs61995958
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 GeneticVariation UNIPROT Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. 24218524 2014
dbSNP: rs61995958
rs61995958
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 GeneticVariation UNIPROT Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 22036850 2012
dbSNP: rs61995958
rs61995958
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 GeneticVariation UNIPROT Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. 20580948 2010
dbSNP: rs61995958
rs61995958
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 GeneticVariation UNIPROT CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072 2008
dbSNP: rs61995958
rs61995958
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.700 GeneticVariation UNIPROT ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074 2008