POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Chronic progressive external ophthalmoplegia ×
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: C0162674
Disease:
Chronic progressive external ophthalmoplegia 		0.020 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
dbSNP: rs113994099
rs113994099
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0162674
Disease:
Chronic progressive external ophthalmoplegia 		0.020 GeneticVariation BEFREE The Y955C substitution in POLG leads to autosomal dominant progressive external ophthalmoplegia (PEO) with other severe phenotypes. 17725985 2007