Entrez Id: |
56997 |
Gene Symbol: |
COQ8A |
COQ8A
|
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 |
Entrez Id: |
56997 |
Gene Symbol: |
COQ8A |
COQ8A
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
Entrez Id: |
56997 |
Gene Symbol: |
COQ8A |
COQ8A
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
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 |
Entrez Id: |
56997 |
Gene Symbol: |
COQ8A |
COQ8A
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|