ATP6, ATP synthase F0 subunit 6, 4508
N. diseases: 226; N. variants: 80
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. | 17352390 | 2007 | |||||||
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G | 0.800 | CausalMutation | CLINVAR | A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome. | 11731285 | 2002 | ||||||
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G | 0.800 | CausalMutation | CLINVAR | The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. | 11245730 | 2001 | ||||||
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G | 0.800 | CausalMutation | CLINVAR | A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling. | 11382202 | 2000 | ||||||
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G | 0.800 | CausalMutation | CLINVAR | The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli. | 11119722 | 2000 | ||||||
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0.800 | GeneticVariation | UNIPROT | De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. | 9556461 | 1998 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. | 9631394 | 1998 | ||||||
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0.800 | GeneticVariation | UNIPROT | Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. | 9501263 | 1998 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. | 9270604 | 1997 | ||||||
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0.800 | GeneticVariation | UNIPROT | Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. | 9270604 | 1997 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. | 7668837 | 1995 | ||||||
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0.800 | GeneticVariation | UNIPROT | A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. | 8395787 | 1993 |