Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4512
Gene Symbol: COX1
COX1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 GermlineCausalMutation ORPHANET MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I. 22832341

2012
Entrez Id: 4512
Gene Symbol: COX1
COX1
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.600 GermlineCausalMutation ORPHANET A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis. 19568996

2008