| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship. | 24424123 | 2014 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. | 20598281 | 2010 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. | 20598281 | 2010 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. | 20598281 | 2010 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. | 20598281 | 2010 | ||||
|
0.700 | Biomarker | disease | CTD_human |