Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.900 Biomarker CTD_human Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy. 24569607

2014
Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.900 Biomarker CTD_human Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines. 15342361

2004
Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.900 GeneticVariation UNIPROT This is the seventh mutation in the ND6 gene that causes optic neuropathy, indicating that this gene is a hot spot for LHON mutations. 11133798

2001
Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.900 GeneticVariation UNIPROT We describe the clinical and molecular genetic findings in a LHON patient and his family with a new mtDNA mutation at np14568 in the ND6 gene. 10447650

1999
Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.900 GeneticVariation UNIPROT Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. 9452107

1998
Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.900 GeneticVariation UNIPROT Herein we report the clinical and the most relevant molecular genetic findings obtained in a LHON family with a new mitochondrial DNA mutations at np 14498 in the ND 6 gene. 8854108

1996
Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.900 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830

1992
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 Biomarker CTD_human Food derived respiratory complex I inhibitors modify the effect of Leber hereditary optic neuropathy mutations. 29991444

2018
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 Biomarker CTD_human In this study, we describe the homoplasmic nucleotide substitution m.3472T>C in the MT-ND1 (NADH-ubiquinone oxidoreductase chain 1) gene and specific changes in cell metabolism in a patient with LHON and his asymptomatic sister. 27449621

2016
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 Biomarker CTD_human Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy. 24569607

2014
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 Biomarker CTD_human Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy. 24569607

2014
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 Biomarker CTD_human Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines. 15342361

2004
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 Biomarker CTD_human Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines. 15342361

2004
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 Biomarker CTD_human This finding shows that, in addition to ND6, the ND1 subunit gene is also a mutational hot spot for LHON. 15505787

2004
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. 9452107

1998
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830

1992
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy. 1959931

1991
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. 2018041

1991
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003

1991
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON). 1959619

1991
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. 1674640

1991
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Biochemical and molecular genetic evidence is presented that in six independent pedigrees the development of Leber hereditary optic neuropathy (LHON) is due to the same primary mutation in the mitochondrial ND1 gene. 1928099

1991
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON). 1959619

1991
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. 3201231

1988
Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.680 GeneticVariation UNIPROT The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. 16240359

2005