COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79
Disease: MELAS Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.520 GermlineCausalMutation disease ORPHANET Isolated cytochrome c oxidase deficiency as a cause of MELAS. 18245391 2008
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.520 GeneticVariation disease BEFREE High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome. 15965049 2005
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.520 Biomarker disease BEFREE The pattern of expression of genes for mtDNA-encoded ribosomal RNA and the protein-coding region cytochrome c oxidase subunit II were similar in muscle specimens of patients with MELAS, patients with chronic progressive external ophthalmoplegia, and normal control subjects, and also between the two MELAS mutations. 7684581 1993
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.520 Biomarker disease CTD_human