Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 GeneticVariation disease BEFREE Defects in DNA polymerase Eta (Polη) cause the sunlight-sensitivity and skin cancer-propensity disorder xeroderma pigmentosum variant. 29859927 2018
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 Biomarker disease BEFREE Furthermore, ectopic expression of USP7 promoted the UV-induced proliferating cell nuclear antigen (PCNA) monoubiquitination in Polη-proficient but not in Polη-deficient XPV (Xeroderma pigmentosum variant) cells, suggesting that USP7 facilitates UV-induced PCNA monoubiquitination by stabilizing Polη. 25435364 2015
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 Biomarker disease BEFREE XP cells were found to have defects in seven of the proteins of the nucleotide excision repair pathway and in DNA polymerase η. XP cells are hypersensitive to killing by UV radiation, and XP cancers have characteristic "UV signature" mutations. 22217736 2012
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 GeneticVariation disease BEFREE Xeroderma pigmentosum variant: complementary molecular approaches to detect a 13 base pair deletion in the DNA polymerase eta gene. 21640722 2011
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 GeneticVariation disease BEFREE A deficiency in DNA polymerase eta due to germ-line mutations in POLH causes the hereditary disease xeroderma pigmentosum variant (XPV), which is characterized by sunlight sensitivity and extreme predisposition to sunlight-induced skin cancer. 19564618 2009
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 Biomarker disease BEFREE DNA polymerase eta, the product of the xeroderma pigmentosum variant gene and a target of p53, modulates the DNA damage checkpoint and p53 activation. 16449651 2006
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 GeneticVariation disease BEFREE The human skin cancer-prone disease xeroderma pigmentosum variant (XPV) results from a mutation in RAD30, which encodes the novel lesion bypass DNA polymerase eta. 12546696 2003
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 Biomarker disease BEFREE Lack of DNA polymerase eta and the attendant defect in bypass replication of pyrimidine dimers induced in DNA by ultraviolet light (UV) underlie the enhanced mutagenesis and carcinogenesis observed in xeroderma pigmentosum variant (XP-V). 12082017 2002
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 Biomarker disease BEFREE The DNA polymerase eta, the absence of which gives rise to the cancer-prone xeroderma pigmentosum variant syndrome, is one of these translesion DNA polymerases. 12405351 2002
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 GeneticVariation disease BEFREE Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. 11773631 2002
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 Biomarker disease BEFREE Domain structure, localization, and function of DNA polymerase eta, defective in xeroderma pigmentosum variant cells. 11157773 2001
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 Biomarker disease BEFREE To determine whether DNA polymerase eta plays a role in the hypermutation of immunoglobulin variable genes, we examined the frequency and pattern of substitutions in variable VH6 genes from the peripheral blood lymphocytes of three patients with xeroderma pigmentosum variant disease, whose polymerase eta had genetic defects. 11376341 2001
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 GeneticVariation disease BEFREE Human DNA polymerase eta functions similarly in the bypass of this lesion, and mutations in human Poleta result in the cancer prone syndrome, the variant form of xeroderma pigmentosum. 11113193 2001
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 Biomarker disease BEFREE Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase eta. 10871396 2000
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 Biomarker disease BEFREE [C. Masutani, M. Araki, A. Yamada, R. Kusomoto, T. Nogimori, T. Maekawa, S. Iwai, F. Hanaoka, Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity, EMBO J.18 (1999) 3491-3501.] have shown that the XPV defect can be corrected by a novel human DNA polymerase, homologue to the yeast DNA polymerase eta, which is able to replicate past cyclobutane pyrimidine dimers in DNA templates. 10556591 1999
Entrez Id: 10721
Gene Symbol: POLQ
POLQ
0.100 GeneticVariation disease BEFREE The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. 10385124 1999