Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.780 GeneticVariation UNIPROT Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 17400793

2007
Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.780 GeneticVariation UNIPROT Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 15767514

2005
Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.780 GeneticVariation UNIPROT Our observations add to the evidence that mitochondrial ND5 protein coding gene mutations frequently associate with the MELAS phenotype, and it highlights the role of complex I dysfunction in MELAS. 12509858

2003
Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.780 GeneticVariation UNIPROT We report a novel G13513A mutation in the mitochondrial ND5 gene in a patient who had morphologically and biochemically abnormal muscle mitochondria and died at age 45 with a diagnosis of MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). 9299505

1997