Leigh Disease
|
0.610 |
Biomarker
|
disease |
CLINGEN |
Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice.
|
27319982 |
2016 |
Leigh Disease
|
0.610 |
Biomarker
|
disease |
CLINGEN |
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
|
25044680 |
2014 |
Leigh Disease
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
TACO1 analysis showed no mutations in 17 patients with juvenile-onset Leigh syndrome and isolated COX or combined respiratory chain deficiency, indicating that TACO1 mutations are a rare cause of Leigh syndrome.
|
20727754 |
2010 |
Leigh Disease
|
0.610 |
Biomarker
|
disease |
CTD_human |
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
|
19503089 |
2009 |
Leigh Disease
|
0.610 |
Biomarker
|
disease |
CLINGEN |
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
|
19503089 |
2009 |
Leigh Disease
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cytochrome-c Oxidase Deficiency
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Cytochrome-c Oxidase Deficiency
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical and neuropathological findings in patients with TACO1 mutations.
|
20727754 |
2010 |
Cytochrome-c Oxidase Deficiency
|
0.600 |
Biomarker
|
disease |
CTD_human |
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
|
19503089 |
2009 |
Cytochrome-c Oxidase Deficiency
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
|
19503089 |
2009 |
Cytochrome-c Oxidase Deficiency
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cytochrome-c Oxidase Deficiency
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice.
|
27319982 |
2016 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
|
25044680 |
2014 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.500 |
Biomarker
|
disease |
CLINGEN |
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
|
19503089 |
2009 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Mitochondrial Diseases
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice.
|
27319982 |
2016 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice.
|
27319982 |
2016 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice.
|
27319982 |
2016 |
Leigh Syndrome due to Mitochondrial Complex V Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice.
|
27319982 |
2016 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice.
|
27319982 |
2016 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
|
25044680 |
2014 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
|
25044680 |
2014 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
|
25044680 |
2014 |