POLB, DNA polymerase beta, 5423

N. diseases: 63; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.040 GeneticVariation disease BEFREE Colon cancer-associated DNA polymerase β variant induces genomic instability and cellular transformation. 22573322 2012
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.040 GeneticVariation disease BEFREE Another DNA polymerase beta variant identified in colon carcinoma interferes with base excision repair in cells. 15280658 2004
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.040 GeneticVariation disease BEFREE We have found a significant concordance between the in vitro replication errors of human DNA polymerase beta and in vivo point mutations of the adenomatous polyposis coli (APC) gene that leads to colon cancer. 12036944 2002
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.040 AlteredExpression disease BEFREE In addition, drug-resistant tumor cells from PK and another patient (HG) displayed enhanced expression of dTMP synthase, c-fos and DNA polymerase beta when compared to normal colon tissue and the HCT8 human colon carcinoma cell line. 2141497 1990