Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907218
rs387907218
TAZ
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.710 CausalMutation CLINVAR Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. 11896212

2002
dbSNP: rs387907218
rs387907218
TAZ
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.710 CausalMutation CLINVAR Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. 12468278

2002
dbSNP: rs387907218
rs387907218
TAZ
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.710 CausalMutation CLINVAR The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 9382096

1997
dbSNP: rs387907218
rs387907218
TAZ
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.710 CausalMutation CLINVAR Two cases of endocardial fibroelastosis--possible x-linked determination. 4685904

1973