ATP8, ATP synthase F0 subunit 8, 4509

N. diseases: 43; N. variants: 66
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606884
rs267606884
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase. 19218458 2009
dbSNP: rs387906422
rs387906422
Entrez Id: 4508;4509;4513;4514;4537;4539
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;ND4L
ATP6;ATP8;COX2;COX3;ND3;ND4L
CUI: C2748884
Disease:
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		0.800 GeneticVariation UNIPROT Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. 19188198 2009
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
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
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C1838916
Disease:
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET 		0.800 GeneticVariation UNIPROT Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. 18055910 2007
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C3275684
Disease:
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
dbSNP: rs267606884
rs267606884
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. 16407113 2006
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C3275684
Disease:
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
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C1838916
Disease:
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET 		0.800 GeneticVariation UNIPROT Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. 16049925 2005
dbSNP: rs199474827
rs199474827
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency 		0.800 GeneticVariation UNIPROT A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. 10486321 1999
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
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
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		0.800 GeneticVariation UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461 1998
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		0.800 GeneticVariation UNIPROT Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604 1997
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.800 CausalMutation CLINVAR Leigh syndrome: clinical features and biochemical and DNA abnormalities. 8602753 1996
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.800 CausalMutation CLINVAR A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. 8190310 1994
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C1328349
Disease:
Neuropathy ataxia and retinis pigmentosa 		C 0.800 CausalMutation CLINVAR A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. 8190310 1994
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		0.800 GeneticVariation UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787 1993
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C1328349
Disease:
Neuropathy ataxia and retinis pigmentosa 		G 0.800 CausalMutation CLINVAR Maternally inherited Leigh syndrome. 8095070 1993
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.800 CausalMutation CLINVAR A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787 1993
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C1328349
Disease:
Neuropathy ataxia and retinis pigmentosa 		C 0.800 CausalMutation CLINVAR A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787 1993
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		G 0.800 CausalMutation CLINVAR Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. 1436530 1992
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C1328349
Disease:
Neuropathy ataxia and retinis pigmentosa 		G 0.800 CausalMutation CLINVAR Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 1539598 1992
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		G 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
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C1328349
Disease:
Neuropathy ataxia and retinis pigmentosa 		0.800 GeneticVariation UNIPROT A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 2137962 1990
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		G 0.800 CausalMutation CLINVAR A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. 2137962 1990
dbSNP: rs199474826
rs199474826
Entrez Id: 4508;4509;4513;4514
Gene Symbol: ATP6;ATP8;COX2;COX3
ATP6;ATP8;COX2;COX3
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT