Gene: ND6 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 GeneticVariation disease BEFREE The child was found to have a variant in the MT-ND6 gene (m.14484T>C), most commonly associated with Leber hereditary optic neuropathy, despite a phenotype more closely resembling Leigh syndrome. 31129100 2019
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 GeneticVariation disease BEFREE We report on the first PGD performed for the m.14487 T>C mitochondrial DNA (mtDNA) mutation in the MT-ND6 gene, associated with Leigh syndrome. 28122886 2017
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 GeneticVariation disease BEFREE MTND5 and MTND6 genes were identified as 'hotspots' of mutations, with Leigh syndrome accounting for the large majority of associated phenotypes. 23847141 2013
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 GeneticVariation disease BEFREE We describe a case of severe infantile-onset complex I deficiency in association with an apparent de novo near-homoplasmic mutation (m.14487T>C) in the mitochondrial ND6 gene, which was previously associated with Leigh syndrome and other neurological disorders. 23813926 2013
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 Biomarker disease BEFREE We sequenced the encoded complex I units: ND2, ND3, ND4, ND5 and ND6 genes and the mitochondrial ATPase 6, tRNA(Val), tRNA(Leu(UUR)), tRNA(Trp) and tRNA(Lys) genes in 10 unrelated patients with Leigh syndrome. 19349200 2009
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 GeneticVariation disease BEFREE The 10191T>C mutation in MTND3 and the 14487T>C mutation in MTND6 were present in two probands with Leigh's-like and Leigh's syndrome, respectively. 16044424 2005
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 CausalMutation disease CLINVAR Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA. 16337195 2005
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 CausalMutation disease CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045 2004
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 CausalMutation disease CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687 2003
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 GeneticVariation disease BEFREE Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 14595656 2003
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 CausalMutation disease CLINVAR Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 14595656 2003
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 GeneticVariation disease UNIPROT Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 14595656 2003
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 CausalMutation disease CLINVAR Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. 12205655 2002
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 GeneticVariation disease CLINVAR An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. 11781695 2001
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 CausalMutation disease CLINVAR Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. 10894222 2000
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 CausalMutation disease CLINVAR Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. 8622678 1996
Entrez Id: 4541
Gene Symbol: ND6
ND6 		0.470 CausalMutation disease CLINVAR A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. 8016139 1994