POLQ, DNA polymerase theta, 10721

N. diseases: 32; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 Biomarker disease BEFREE Error-Prone Replication through UV Lesions by DNA Polymerase θ Protects against Skin Cancers. 30773314 2019
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 Biomarker disease BEFREE The crucial role of DNA polymerase eta in protecting against sunlight-induced tumors is evidenced in Xeroderma Pigmentosum Variant (XP-V) patients, who carry mutations in this protein and present increased frequency of skin cancer. 30362123 2019
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 Biomarker disease BEFREE DNA polymerase eta is one such specialized enzyme whose function is directly associated with casual development of certain skin cancers and chemo-resistance. 30535880 2019
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 GeneticVariation disease BEFREE Defects in DNA polymerase Eta (Polη) cause the sunlight-sensitivity and skin cancer-propensity disorder xeroderma pigmentosum variant. 29859927 2018
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 GeneticVariation disease BEFREE Deficiencies of DNA polymerase eta-an enzyme mediating replication past UV-induced DNA damage-predispose individuals to xeroderma pigmentosum variant (XPV) and result in a high incidence of skin cancers. 21640722 2011
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 Biomarker disease BEFREE Structural basis for the suppression of skin cancers by DNA polymerase eta. 20577207 2010
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.070 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