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 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