Gene: ND1
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: ND2
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs199476120 in
ND1;ND2 gene and
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
PMID 8104867 1993 Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.
rs199476118 in
ND1;ND2 gene and
Leigh Disease
PMID 12205655 2002 Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
PMID 18504678 2008 Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.
rs199476122 in
ND1;ND2 gene and
MELAS Syndrome
PMID 15466014 2004 Mutations of the mitochondrial ND1 gene as a cause of MELAS.
PMID 17562939 2007 A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
PMID 16969869 2006 Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.
PMID 24830958 2014 Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.
PMID 18977334 2009 Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
PMID 17535832 2007 Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.
PMID 18504678 2008 Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.
rs199476118 in
ND1;ND2 gene and
Optic Atrophy, Hereditary, Leber
PMID 1674640 1991 A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
PMID 1928099 1991 Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.
PMID 1959619 1991 Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
PMID 2018041 1991 Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.
PMID 1900003 1991 Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
PMID 1417830 1992 An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.
PMID 25194554 2014 Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families.
PMID 11479733 2001 Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families.
PMID 19497304 2009 Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation.
PMID 15972314 2006 Sequence variation in mitochondrial complex I genes: mutation or polymorphism?