POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Cardiomyopathies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994099
rs113994099
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Cardiac targeted Y955C POLG yielded a molecular signature of CPEO in the heart with cardiomyopathy (CM), mitochondrial oxidative stress, and premature death. 17310215 2007