Gene: ND5 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 GeneticVariation disease BEFREE In the concordance of published literature we also observed a large number of variations in ND5 gene (hot spot for LS). 31352295 2019
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 GeneticVariation disease BEFREE Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). 29506874 2018
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 GeneticVariation disease BEFREE The 13513G>A mutation in the ND5 gene of mitochondrial DNA (mtDNA) is usually associated with mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS), or Leigh syndrome (LS). 20408961 2010
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 Biomarker disease BEFREE This article describes 2 mitochondrial DNA mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)/Leigh syndrome overlap syndrome and atypical Leigh syndrome. 19617458 2009
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 GeneticVariation disease LHGDN Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy. 19054921 2008
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 GeneticVariation disease 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 		0.470 GeneticVariation disease CLINVAR Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects. 17317336 2007
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 GeneticVariation disease BEFREE Overlapping phenotypes including LHON, MELAS, and Leigh syndrome have recently been associated with numerous mtDNA point mutations in the ND5 gene of complex I, now considered a mutational hot spot. 16816025 2006
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 CausalMutation disease CLINVAR Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. 14730434 2004
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 CausalMutation disease CLINVAR Mitochondrial A135149 mutation without MELAS but in association with papillary thyroid carcinoma. 15521990 2004
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 CausalMutation disease CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045 2004
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 CausalMutation disease CLINVAR Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. 14520659 2003
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 CausalMutation disease CLINVAR The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. 12624137 2003
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 Biomarker disease LHGDN Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit. 14557590 2003
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 CausalMutation disease CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687 2003
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 GeneticVariation disease UNIPROT A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552 2003
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 CausalMutation disease CLINVAR Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446 2002
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 GeneticVariation disease CLINVAR Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446 2002
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 GeneticVariation disease UNIPROT Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446 2002
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 CausalMutation disease CLINVAR A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. 11198278 2001
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 CausalMutation disease CLINVAR The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. 10589546 1999
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.470 CausalMutation disease CLINVAR Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505 1997