Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.780 GeneticVariation disease BEFREE A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues. 31639449 2020
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.780 GeneticVariation 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
0.780 GermlineCausalMutation disease ORPHANET Here, from the sequencing of the entire mitochondrial genome, we report a Korean MELAS family harboring two homoplasmic missense mutations, which were reported 9957T>C (Phe251Leu) transition mutation in the cytochrome c oxidase subunit 3 (COX3) gene and a novel 13849A>C (Asn505His) transversion mutation in the NADH dehydrogenase subunit 5 (ND5) gene. 18587274 2008
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.780 GeneticVariation disease BEFREE The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. 18332249 2008
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.780 GeneticVariation disease BEFREE This is the 15th mutation affecting the MTND5 subunit of respiratory chain complex I and confirms this protein as an important site for disease with phenotypes ranging from MELAS and infantile encephalopathies to isolated syndromes affecting a single tissue such as Leber hereditary optic neuropathy and now skeletal muscle. 18396045 2008
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.780 GeneticVariation disease BEFREE We have identified a MELAS patient harboring a 13528A-->G mitochondrial DNA (mtDNA) mutation in the Complex I ND5 gene. 17940288 2007
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.780 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
0.780 GeneticVariation disease 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
0.780 GeneticVariation disease BEFREE 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
0.780 GeneticVariation disease 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
0.780 GeneticVariation disease BEFREE A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552 2003
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.780 GeneticVariation disease 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
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.780 GeneticVariation disease BEFREE Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505 1997
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.780 CausalMutation disease CLINVAR
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.780 Biomarker disease CTD_human
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.740 GeneticVariation disease BEFREE Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS. 23834081 2014
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.740 CausalMutation disease CLINVAR Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome. 24830958 2014
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.740 CausalMutation disease CLINVAR Identification of novel mutations in five patients with mitochondrial encephalomyopathy. 18977334 2009
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.740 CausalMutation disease CLINVAR Progressive encephalopathy and complex I deficiency associated with mutations in MTND1. 18504678 2008
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.740 CausalMutation disease CLINVAR Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. 17535832 2007
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.740 CausalMutation disease CLINVAR A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. 17562939 2007
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.740 CausalMutation disease CLINVAR Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation. 16969869 2006
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.740 GermlineCausalMutation disease ORPHANET LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. 15657614 2005
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.740 GeneticVariation disease BEFREE Here we report the first heteroplasmic mitochondrial DNA (mtDNA) point mutation (3376G>A) in the MTND1 gene associated with an overlap syndrome comprising the clinical features of both LHON and MELAS. 15657614 2005
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.740 CausalMutation disease CLINVAR Mutations of the mitochondrial ND1 gene as a cause of MELAS. 15466014 2004