Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.600 | GermlineCausalMutation | disease | ORPHANET | Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy. | 25339201 | 2015 | ||||
|
0.600 | GermlineCausalMutation | disease | ORPHANET | Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency. | 24549041 | 2014 | ||||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.600 | Biomarker | disease | CTD_human |