C12orf65
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
C12orf65
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.
|
27858754 |
2015 |
C12orf65
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.
|
27858754 |
2015 |
C12orf65
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
|
24284555 |
2014 |
C12orf65
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
|
24284555 |
2014 |
C12orf65
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
|
24424123 |
2014 |
C12orf65
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
|
20598281 |
2010 |
C12orf65
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
|
20598281 |
2010 |
C12orf65
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
|
20598281 |
2010 |
C12orf65
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
|
20598281 |
2010 |
C12orf65
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Entrez Id: |
8099 |
Gene Symbol: |
CDK2AP1 |
CDK2AP1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.
|
27858754 |
2015 |
Entrez Id: |
8099 |
Gene Symbol: |
CDK2AP1 |
CDK2AP1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.
|
27858754 |
2015 |
Entrez Id: |
8099 |
Gene Symbol: |
CDK2AP1 |
CDK2AP1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
|
24284555 |
2014 |
Entrez Id: |
8099 |
Gene Symbol: |
CDK2AP1 |
CDK2AP1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
|
24284555 |
2014 |
Entrez Id: |
8099 |
Gene Symbol: |
CDK2AP1 |
CDK2AP1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
|
20598281 |
2010 |
Entrez Id: |
8099 |
Gene Symbol: |
CDK2AP1 |
CDK2AP1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
|
20598281 |
2010 |