POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Malignant Neoplasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 GeneticVariation group BEFREE Recent studies demonstrated an association of CAG repeat polymorphism in the second exon of POLG gene with the risk of cancer. 26317126 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 GeneticVariation group BEFREE However, a role for germline variations in POLG1 in human cancers is unknown. 26468652 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE Together, our study provides the first comprehensive analysis of the POLG gene mutation in human cancer and suggests a function for POLG (1) in decreased OXPHOS in cancers and (2) in promoting tumorigenicity. 19629138 2009