ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Disease: Striatonigral Degeneration, Infantile, Mitochondrial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C1839022
Disease:
Striatonigral Degeneration, Infantile, Mitochondrial 		0.800 GeneticVariation UNIPROT A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 7668837 1995
dbSNP: rs199476135
rs199476135
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C1839022
Disease:
Striatonigral Degeneration, Infantile, Mitochondrial 		C 0.800 CausalMutation CLINVAR