ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Disease: Histiocytoid Cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: C1708371
Disease:
Histiocytoid Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein. 26803244 2016
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: C1708371
Disease:
Histiocytoid Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. 19188198 2009