ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Disease: Leigh Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476138
rs199476138
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		0.810 GeneticVariation BEFREE The MT-ATP6 m.9185T>C p.Leu220Pro mutation, previously associated with Leigh syndrome, was present in all family members, while the MT-TL1 m.3271T>C mutation, a known cause of MELAS syndrome, was observed in the sole patient with MELAS presentation. 24153443 2013
dbSNP: rs199476138
rs199476138
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.810 CausalMutation CLINVAR Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. 18461509 2007
dbSNP: rs199476138
rs199476138
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		0.810 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: rs199476138
rs199476138
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.810 CausalMutation CLINVAR Two new mutations in the MTATP6 gene associated with Leigh syndrome. 16217706 2005
dbSNP: rs199476138
rs199476138
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		0.810 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: rs199476138
rs199476138
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		0.810 GeneticVariation UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461 1998
dbSNP: rs199476138
rs199476138
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		0.810 GeneticVariation UNIPROT Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604 1997
dbSNP: rs199476138
rs199476138
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		0.810 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: 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: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;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: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		G 0.800 CausalMutation CLINVAR A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome. 11731285 2002
dbSNP: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		G 0.800 CausalMutation CLINVAR The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. 11245730 2001
dbSNP: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		G 0.800 CausalMutation CLINVAR A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling. 11382202 2000
dbSNP: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		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
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: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;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: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		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
dbSNP: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;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 Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604 1997
dbSNP: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.800 CausalMutation CLINVAR Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604 1997
dbSNP: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;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: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.800 CausalMutation CLINVAR A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 7668837 1995
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