Disease: Optic Atrophy, Hereditary, Leber ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476112
rs199476112
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation BEFREE Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. 21414825 2011
dbSNP: rs199476112
rs199476112
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. 9452107 1998
dbSNP: rs199476112
rs199476112
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		A 0.810 CausalMutation CLINVAR Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy. 1937476 1991
dbSNP: rs199476112
rs199476112
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 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
dbSNP: rs199476112
rs199476112
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 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
dbSNP: rs199476112
rs199476112
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		A 0.810 CausalMutation CLINVAR Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON). 1959619 1991
dbSNP: rs199476112
rs199476112
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. 3201231 1988