Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | group | BEFREE | Representative of these mutations is a heteroplasmic mutation in MTND6 at np 14459 whose clinical presentations range from adult-onset blindness to pediatric dystonia and basal ganglial degeneration. | 8090716 | 1994 | ||||
|
0.080 | GeneticVariation | group | BEFREE | A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. | 8016139 | 1994 | ||||
|
0.080 | GeneticVariation | group | BEFREE | These results confirm the association of the MTND6*LDYT14459A mutation with Leber's hereditary optic neuropathy and/or dystonia. | 7654063 | 1995 | ||||
|
0.080 | GeneticVariation | group | BEFREE | Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. | 8622678 | 1996 | ||||
|
0.080 | GeneticVariation | group | BEFREE | We report the molecular findings in two independent patients presenting with progressive generalized dystonia and bilateral striatal necrosis in whom we have identified a mutation (T14487C) in the mitochondrial ND6 gene. | 14520668 | 2003 | ||||
|
0.080 | GeneticVariation | group | BEFREE | Leber hereditary optic neuropathy (LHON)/pediatric onset dystonia is associated with a G to A transition at nucleotide position (np) 14459, within the mitochondrial DNA (mtDNA)-encoded ND6 gene. | 14735585 | 2004 | ||||
|
0.080 | GeneticVariation | group | BEFREE | The nucleotide G14459A mutation occurs in NADH dehydrogenase subunit 6, and has been suggested previously as the disease-causing mutation in Hispanic, African-American and Caucasian families of Leber's hereditary optic neuropathy (LHON) and/or dystonia. | 16380132 | 2006 | ||||
|
0.080 | GeneticVariation | group | BEFREE | We describe a Korean family presenting with pediatric-onset, progressive, generalized dystonia with bilateral striatal necrosis and the homoplasmic G14459A mutation in the mitochondrial ND6 gene. | 20052369 | 2010 |