XRCC1, X-ray repair cross complementing 1, 7515

N. diseases: 410; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151546
Disease: Oral Cavity Carcinoma
Oral Cavity Carcinoma
0.010 GeneticVariation disease BEFREE Distribution of altered XRCC1 gene haplotype was higher in OCC cases. 30954277 2020
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
0.010 GeneticVariation disease BEFREE From the prospective German clinical cohort study (RCC-Registry), 99 patients with papillary mRCC treated with systemic first-line therapy between December 2007 and May 2017 were included. 31498894 2020
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
0.010 Biomarker disease BEFREE The results provided compelling preclinical support that Cx-platin-Cl and Cx-DN604-Cl could reverse chemo-immune resistance via decaying JWA-XRCC1-mediated SSBR and immunosuppression, improving the development of emerging Pt(IV) candidate as a potential immunotherapeutic agent for cancer resistant prevention. 31703842 2020
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.010 Biomarker disease BEFREE They are structurally organized, containing canonical promyelocytic leukemia (PML) nuclear body protein SP100 concentrated in a peripheral layer, and XRCC1 in the center. 30260704 2019
Leukoencephalopathy, Progressive Multifocal
0.010 Biomarker disease BEFREE These results reveal that XRCC1-contaning foci constitute newly recognized PML-like nuclear bodies that accrete and locally deliver essential factors for repair of single-strand DNA breaks in replication regions.-Kordon, M. M., Szczurek, A., Berniak, K., Szelest, O., Solarczyk, K., Tworzydło, M., Wachsmann-Hogiu, S., Vaahtokari, A., Cremer, C., Pederson, T., Dobrucki, J. W. PML-like subnuclear bodies, containing XRCC1, juxtaposed to DNA replication-based single-strand breaks. 30260704 2019
CUI: C0206657
Disease: Alveolar Soft Part Sarcoma
Alveolar Soft Part Sarcoma
0.010 GeneticVariation disease BEFREE Laboratory A results were as follows: archival cases (42 of 98, 43%), ASPS (16 of 19, 84%), and Xp11-RCC (7 of 8, 88%). 30851332 2019
Heredodegenerative Disorders, Nervous System
0.010 AlteredExpression group BEFREE Arguably the most exciting aspect of XRCC1 function that has emerged in the last few years is its intimate relationship with PARP1 activity and critical role in preventing hereditary neurodegenerative disease. 31324530 2019
Hereditary Leiomyomatosis and Renal Cell Cancer
0.010 Biomarker disease BEFREE Based on these results, we analyzed the outcome of bevacizumab plus erlotinib in Korean patients with HLRCC-associated RCC. 30913859 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
0.010 Biomarker disease BEFREE Our results showed that IPF fibroblasts residing in a collagen rich matrix are resistance to cisplatin-induced cell death due to the aberrantly high CK2/XRCC1-dependent DNA repair activity. 30850922 2019
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia
0.010 Biomarker disease BEFREE They are structurally organized, containing canonical promyelocytic leukemia (PML) nuclear body protein SP100 concentrated in a peripheral layer, and XRCC1 in the center. 30260704 2019
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia
0.010 Biomarker disease BEFREE We investigated if substitutions in the ERCC1, ERCC2, and XRCC1 genes of the DNA repair pathway correlate with non-obstructive azoospermia and male infertility. 30390177 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.010 GeneticVariation group BEFREE MATERIAL AND METHODS The XRCC1 gene T-77C, Arg194Trp, Arg280His, Arg399Gln, COMT gene 186C>T, and Val158Met mutations were evaluated in peripheral blood collected from 261 non-smoking female patients diagnosed with primary lung cancer and 265 female patients with benign lung disease. 30109864 2018
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.010 Biomarker disease BEFREE Molecular marker analysis suggested that Polb- and Xrcc1-deficient medulloblastomas belonged to the SHHα subtype, underscoring the important role of genomic stability in preventing this devastating pediatric cerebellar tumor. 30274781 2018
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans
0.010 GeneticVariation disease BEFREE Our results showed that carrying the allele T of XRCC1 rs1799782 polymorphism and the allele G of APEX rs1130409 polymorphism increased the risk of developing PDB. 29630930 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 GeneticVariation disease BEFREE In conclusion, these findings revealed that XRCC1 rs3213245 polymorphism was associated with increased risk of OS, which could affect XRCC1 expression in vitro and in vivo. 30464596 2018
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
0.010 Biomarker disease BEFREE They include new HCAs genes such as GRM1 (SCA44), FAT2 (SCA45), PLD3 (SCA46), SCYL1 (SCAR21), UBA5 (SCAR24) and XRCC1 (SCAR26) as well as CAPN1 (SPG76) and CPT1C (SPG73) in HSPs. 29847346 2018
CUI: C0085293
Disease: Hepatitis E
Hepatitis E
0.010 GeneticVariation disease BEFREE Recent GWAS-associated studies reported that single nucleotide polymorphisms (SNPs) in ABCB1, TGFβ1, XRCC1 genes were associated with hepatitis A virus (HAV) infection, and variants of APOA4 and APOE genes were associated with and hepatitis E virus (HEV) infection in US population. 29558945 2018
Secondary malignant neoplasm of bone
0.010 Biomarker disease BEFREE In conclusion, we report 2 cases of aggressive ESC-RCC course including widespread bone metastases in addition to 2 typical indolent tumors. 29885406 2018
Myelofibrosis due to another disorder
0.010 GeneticVariation disease BEFREE Progression to secondary myelofibrosis/leukemia is influenced by exposure to cytoreductive agents, and caspase and BER polymorphisms {globally, CASP8 3'untranslated region [odds ratio (OR)=0.24; 95% confidence interval (CI), 0.08‑0.69], XRCC1 Arg194Trp [OR=3.58; 95% CI, 0.98‑13.01]; for essential thrombocythemia patients CASP9 Arg173His [OR=11.27; 95% CI, 1.13‑112.28], APEX1 Asp148Glu [OR=0.28; 95% CI, 0.74‑1.03], and XRCC1 Arg194Trp [OR=6.60; 95% CI, 1.60‑27.06]}. 30320340 2018
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
0.010 AlteredExpression phenotype BEFREE In conclusion, this study showed modulations of hOGG1 and XRCC1 expression especially 1 day after elective surgery in patients undergoing PROP and ISO anaesthesia. 29669111 2018
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 GeneticVariation disease BEFREE In conclusion, these findings revealed that XRCC1 rs3213245 polymorphism was associated with increased risk of OS, which could affect XRCC1 expression in vitro and in vivo. 30464596 2018
Malignant Female Reproductive System Neoplasm
0.010 GeneticVariation disease BEFREE Overall, no significant association between any of the studied XRCC1 polymorphisms and gynecologic cancer risk was observed. 28391259 2018
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.010 AlteredExpression disease BEFREE RAP1 or XRCC1 downregulation cooperated with ATRX loss in driving the ALT phenotype. 29545335 2018
CUI: C1332959
Disease: Childhood Cerebellar Neoplasm
Childhood Cerebellar Neoplasm
0.010 Biomarker disease BEFREE Molecular marker analysis suggested that Polb- and Xrcc1-deficient medulloblastomas belonged to the SHHα subtype, underscoring the important role of genomic stability in preventing this devastating pediatric cerebellar tumor. 30274781 2018
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 GeneticVariation disease BEFREE In conclusion, these findings revealed that XRCC1 rs3213245 polymorphism was associated with increased risk of OS, which could affect XRCC1 expression in vitro and in vivo. 30464596 2018