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: C4518194
Disease: Epithelioid angiomyolipoma
Epithelioid angiomyolipoma
0.010 Biomarker disease BEFREE Herein, we describe a series of six primary and metastatic ESC-RCCs morphologically and immunophenotypically mimicking epithelioid angiomyolipoma (eAML). 29885406 2018
Acquired cystic disease associated renal cell carcinoma
0.010 Biomarker disease BEFREE ACKD-RCC-like cysts should be recognized as a distinct entity from ACKD-RCC, defined by the lack of any solid nodular growth within the cyst. 30001236 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 GeneticVariation group BEFREE However, there was no significant association between XRCC1 Arg194Trp polymorphism and autoimmune diseases in different genetic models. 27812739 2017
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation disease BEFREE We analyzed the presence of SNP rs11615 from ERCC1, rs13181 from ERCC2, and rs25487 from XRCC1 and the relationship between risk factors such as smoking, alcohol intake, hypertension, and diabetes. 27668351 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation group BEFREE We analyzed the presence of SNP rs11615 from ERCC1, rs13181 from ERCC2, and rs25487 from XRCC1 and the relationship between risk factors such as smoking, alcohol intake, hypertension, and diabetes. 27668351 2017
CUI: C0017416
Disease: Genital Neoplasms, Female
Genital Neoplasms, Female
0.010 GeneticVariation group BEFREE Meta-analysis of XRCC1 polymorphism and risk of female reproductive system cancer. 28415705 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.010 Biomarker disease BEFREE Pressure overload-induced heart failure is more severe in the mice lacking XRCC1, an essential protein for SSB repair, which is rescued by blocking DDR activation through genetic deletion of ATM, suggesting the causative role of SSB accumulation and DDR activation in the pathogenesis of heart failure. 28436431 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.010 Biomarker disease BEFREE Pressure overload-induced heart failure is more severe in the mice lacking XRCC1, an essential protein for SSB repair, which is rescued by blocking DDR activation through genetic deletion of ATM, suggesting the causative role of SSB accumulation and DDR activation in the pathogenesis of heart failure. 28436431 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.010 Biomarker disease BEFREE One of the most important interactions of XRCC1 is that with polynucleotide kinase/phosphatase (PNKP), a dual-function DNA kinase/phosphatase that processes damaged DNA termini and that, if mutated, results in ataxia with oculomotor apraxia 4 (AOA4) and microcephaly with early-onset seizures and developmental delay (MCSZ). 28821613 2017
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 GeneticVariation group BEFREE The role of base excision repair (BER) genes in Philadelphia-negative (PN)-myeloproliferative neoplasms (MPNs) susceptibility was evaluated by genotyping eight polymorphisms [apurinic/apyrimidinic endodeoxyribonuclease 1, mutY DNA glycosylase, earlier mutY homolog (<i>E. coli</i>) (MUTYH), 8-oxoguanine DNA glycosylase 1, poly (ADP-ribose) polymerase (PARP) 1, PARP4 and X-ray repair cross-complementing 1 (XRCC1)] in a case-control study involving 133 Caucasian Portuguese patients. 28599464 2017
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps
0.010 GeneticVariation disease BEFREE However, no interaction was found between XRCC1 (Arg399Gln) polymorphism genotypes and Cd in association with NP disease. 27838878 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 Biomarker disease BEFREE The Investigation of Polymorphisms in DNA Repair Genes (XRCC1, APE1 and XPD) in Women with Polycystic Ovary Syndrome 28610405 2017
CUI: C0042076
Disease: Urologic Neoplasms
Urologic Neoplasms
0.010 GeneticVariation group BEFREE Although overall analyses suggested a null result for XRCC1-rs25487 polymorphism, in the stratified analysis by ethnicity, an increased risk of urological neoplasms for Asians in allelic and homozygote models was identified. 28330811 2017
Secondary malignant neoplasm of lung
0.010 GeneticVariation disease BEFREE Cabozantinib treatment caused striking tumor regression and inhibited lung metastasis in TSG-RCC-030. 27715452 2017
CUI: C0263606
Disease: Early radiation dermatitis
Early radiation dermatitis
0.010 GeneticVariation disease BEFREE T stage and smoking status were significantly associated with acute radiation oral mucositis with Grade ≥2 (OR = 2.508, P = .001, 95% CI: 1.427-4.408, OR = 6.355, P < .001, 95% CI: 2.533-15.841).The XRCC1 codon 399 genotype in NPC could be an important predicting factor in the risk of acute radiation dermatitis during IMRT. 29095251 2017
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue
0.010 AlteredExpression disease BEFREE The expression of APE-1 and XRCC-1 was evaluated by immunohistochemistry in 82 cases of oral tongue squamous cell carcinoma. 27925687 2017
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
0.010 GeneticVariation disease BEFREE Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. 28002403 2017
CUI: C0497169
Disease: hiv-infection/aids
hiv-infection/aids
0.010 Biomarker disease BEFREE Association Between XRCC1 and WRN as Genetic Markers of Stability and Susceptibility to Cancer in Patients with HIV/AIDS and Cancer: a Cross-Sectional Study 28440612 2017
CUI: C0543874
Disease: Apraxia, oculomotor, Cogan type
Apraxia, oculomotor, Cogan type
0.010 GeneticVariation disease BEFREE Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia. 28002403 2017
Secondary malignant neoplasm of lymph node
0.010 AlteredExpression disease BEFREE These findings indicated that decreased XRCC1 expression was associated with lymph node metastasis but was not an independent prognostic factor in ccRCC patients. 29312615 2017
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
0.010 GeneticVariation disease BEFREE TSG-RCC-030 provides a realistic preclinical model to better understand the development and progression of pRCC with MET mutation and accelerate the development of new therapies for pRCC. 27715452 2017
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
0.010 Biomarker disease BEFREE One of the most important interactions of XRCC1 is that with polynucleotide kinase/phosphatase (PNKP), a dual-function DNA kinase/phosphatase that processes damaged DNA termini and that, if mutated, results in ataxia with oculomotor apraxia 4 (AOA4) and microcephaly with early-onset seizures and developmental delay (MCSZ). 28821613 2017
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
0.010 Biomarker phenotype BEFREE KPT-9274 is being evaluated in a phase I human clinical trial in solid tumors and lymphomas, which will allow this data to be rapidly translated into the clinic for the treatment of RCC. 27390344 2016
Squamous cell carcinoma of oropharynx
0.010 GeneticVariation disease BEFREE Carriers of combined genotypes of c.580C>T and TTGG haplotype of XRCC1 gene were under 3.35- and 3.22-fold increased risk of OPSCC than others. 27372710 2016
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer
0.010 Biomarker disease BEFREE Moreover, the presence of the Gln/Gln, Arg/His, and His/His genotypes of XRCC1 was significantly more likely to have bone erosion and extra-articular features in RA patients. 26692147 2016