Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.780 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
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		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
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		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
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		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
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		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
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		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
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		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
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.780 GeneticVariation disease UNIPROT Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 15767514 2005
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		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
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		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
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.780 GeneticVariation disease BEFREE A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552 2003
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		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
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.780 GeneticVariation disease BEFREE Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505 1997
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.780 CausalMutation disease CLINVAR
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.780 Biomarker disease CTD_human
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.680 GeneticVariation disease BEFREE In this study, we demonstrated that a missense mutation (m.12338T>C, p.1M>T) in the ND5 gene contributed to the pathogenesis of LHON. 29579248 2018
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.680 GeneticVariation disease CLINVAR The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy. 27164671 2016
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.680 GeneticVariation disease BEFREE Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5. 26894521 2016
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.680 AlteredExpression disease BEFREE We set up a protocol to quantify MTND5 heteroplasmy levels in a family in which the proband manifests a LHON phenotype. 22589247 2012
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.680 GeneticVariation disease BEFREE Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families. 21131053 2011
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.680 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
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.680 CausalMutation disease CLINVAR 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
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.680 GeneticVariation disease BEFREE Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a. 19026397 2008
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.680 CausalMutation disease CLINVAR The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. 16816025 2006
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.680 GeneticVariation disease BEFREE The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. 16240359 2005