COX1, cytochrome c oxidase subunit I, 4512

N. diseases: 421; N. variants: 89
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
0.600 GermlineCausalMutation disease ORPHANET MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I. 22832341 2012
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
0.600 GermlineCausalMutation disease ORPHANET A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis. 19568996 2008
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
0.600 CausalMutation disease CLINVAR A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. 8019558 1994
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
0.600 Biomarker disease CTD_human