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: rs145034527
rs145034527
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.800 GeneticVariation UNIPROT CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072 2008
dbSNP: rs145034527
rs145034527
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.800 GeneticVariation UNIPROT ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074 2008
dbSNP: rs201908721
rs201908721
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.800 GeneticVariation UNIPROT ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074 2008
dbSNP: rs201908721
rs201908721
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.800 GeneticVariation UNIPROT CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072 2008
dbSNP: rs1085307053
rs1085307053
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		C 0.700 GeneticVariation CLINVAR ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074 2008
dbSNP: rs144147839
rs144147839
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: rs144147839
rs144147839
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
dbSNP: rs387906298
rs387906298
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		AG 0.700 CausalMutation CLINVAR CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072 2008
dbSNP: rs41303129
rs41303129
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		T 0.700 CausalMutation CLINVAR ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074 2008
dbSNP: rs606231138
rs606231138
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		C 0.700 CausalMutation CLINVAR ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074 2008
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
dbSNP: rs778798354
rs778798354
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: rs778798354
rs778798354
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
dbSNP: rs145034527
rs145034527
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.800 GeneticVariation UNIPROT Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. 20580948 2010
dbSNP: rs201908721
rs201908721
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.800 GeneticVariation UNIPROT Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. 20580948 2010
dbSNP: rs144147839
rs144147839
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 Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. 20580948 2010
dbSNP: rs778798354
rs778798354
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: rs145034527
rs145034527
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		T 0.800 GeneticVariation CLINVAR Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 22036850 2012
dbSNP: rs145034527
rs145034527
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.800 GeneticVariation UNIPROT Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 22036850 2012
dbSNP: rs201908721
rs201908721
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
CUI: C2677589
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.800 GeneticVariation UNIPROT Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 22036850 2012
dbSNP: rs144147839
rs144147839
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 Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 22036850 2012
dbSNP: rs778798354
rs778798354
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