Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 CausalMutation CLINVAR Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. 12707444

2003
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 CausalMutation CLINVAR A novel mtDNA C11777A mutation in Leigh syndrome. 16120329

2003
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 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
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 CausalMutation CLINVAR Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy. 1937476

1991
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 CausalMutation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045

2004
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 CausalMutation CLINVAR A novel mtDNA C11777A mutation in Leigh syndrome. 16120329

2003
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.100 GeneticVariation CLINVAR

Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.100 CausalMutation CLINVAR