POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.420 GeneticVariation group BEFREE This study underscores the pathogenetic role of human mutant POLG and its gene product in mtDNA depletion, mitochondrial oxidative stress, and CM as it relates to the genetic defect in CPEO. 17310215 2007
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.420 Biomarker group BEFREE Index patients in both families presented with PEO and developed other clinical disease manifestations, such as myopathy and cardiomyopathy (patient 1) and axonal neuropathy, diabetes mellitus, hearing loss, and myopathy (patient 2), later in the course of illness. 15258213 2004
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.420 Biomarker group GENOMICS_ENGLAND
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.420 Biomarker group HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.420 Biomarker group GENOMICS_ENGLAND