ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: C3275684
Disease:
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		C 0.800 CausalMutation CLINVAR
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 		G 0.800 CausalMutation CLINVAR
dbSNP: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C3275684
Disease:
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C3275684
Disease:
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs199476138
rs199476138
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C3275684
Disease:
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		C 0.700 CausalMutation CLINVAR