COQ8A, coenzyme Q8A, 56997

N. diseases: 64; N. variants: 40
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 Biomarker disease GENOMICS_ENGLAND Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. 29915382 2019
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 Biomarker disease MGD Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity. 27499294 2016
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation disease UNIPROT Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. 26818466 2016
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation disease UNIPROT ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 27106809 2016
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation disease UNIPROT Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis. 25498144 2015
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation disease CLINVAR Mitochondrial pathology in progressive cerebellar ataxia. 26640698 2015
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		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
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation disease UNIPROT Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability. 24048965 2014
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation disease CLINVAR Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. 24164873 2013
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 CausalMutation disease CLINVAR Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. 24164873 2013
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation disease UNIPROT Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 22036850 2012
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation disease CLINVAR Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. 22036850 2012
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation disease UNIPROT Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. 20580948 2010
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation disease UNIPROT ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074 2008
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 CausalMutation disease CLINVAR CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072 2008
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation disease UNIPROT CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. 18319072 2008
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 CausalMutation disease CLINVAR ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074 2008
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 GeneticVariation disease CLINVAR ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. 18319074 2008
CUI: C2677589
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 		0.900 Biomarker disease CTD_human