| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Leigh Disease
|
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 | |||||
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
|
0.800 | GeneticVariation | UNIPROT | Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. | 18055910 | 2007 | |||||
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
|
0.800 | GeneticVariation | UNIPROT | Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. | 18055910 | 2007 | |||||
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
|
0.800 | GeneticVariation | UNIPROT | Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. | 16049925 | 2005 | |||||
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
|
0.800 | GeneticVariation | UNIPROT | Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. | 16049925 | 2005 | |||||
Leigh Disease
|
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 | |||||
Leigh Disease
|
0.800 | GeneticVariation | UNIPROT | De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. | 9556461 | 1998 | |||||
Leigh Disease
|
0.800 | GeneticVariation | UNIPROT | Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. | 9270604 | 1997 | |||||
Leigh Disease
|
0.800 | CausalMutation | CLINVAR | Leigh syndrome: clinical features and biochemical and DNA abnormalities. | 8602753 | 1996 | |||||
Leigh Disease
|
0.800 | CausalMutation | CLINVAR | A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. | 8190310 | 1994 | |||||
Neuropathy ataxia and retinis pigmentosa
|
0.800 | CausalMutation | CLINVAR | A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. | 8190310 | 1994 | |||||
Leigh Disease
|
0.800 | GeneticVariation | UNIPROT | A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. | 8395787 | 1993 | |||||
Neuropathy ataxia and retinis pigmentosa
|
0.800 | CausalMutation | CLINVAR | Maternally inherited Leigh syndrome. | 8095070 | 1993 | |||||
Leigh Disease
|
0.800 | CausalMutation | CLINVAR | A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. | 8395787 | 1993 | |||||
Neuropathy ataxia and retinis pigmentosa
|
0.800 | CausalMutation | CLINVAR | A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. | 8395787 | 1993 | |||||
Leigh Disease
|
0.800 | CausalMutation | CLINVAR | Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. | 1436530 | 1992 | |||||
Neuropathy ataxia and retinis pigmentosa
|
0.800 | CausalMutation | CLINVAR | Prenatal diagnosis of mitochondrial DNA8993 T----G disease. | 1539598 | 1992 | |||||
Leigh Disease
|
0.800 | CausalMutation | CLINVAR | Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. | 1550128 | 1992 | |||||
Neuropathy ataxia and retinis pigmentosa
|
0.800 | GeneticVariation | UNIPROT | A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. | 2137962 | 1990 | |||||
Leigh Disease
|
0.800 | CausalMutation | CLINVAR | A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. | 2137962 | 1990 | |||||
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
|
0.800 | CausalMutation | CLINVAR | ||||||||
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Ataxia
|
0.700 | CausalMutation | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 | |||||
Cleft palate and bilateral cleft lip
|
0.700 | CausalMutation | CLINVAR |