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
Malignant neoplasm of gastrointestinal tract
0.010 GeneticVariation disease BEFREE Our findings suggest that inheritance of variant alleles in XRCC1 Arg194Trp and Arg399Gln SNPs may act as biomarkers for the early detection of GIC, especially for gastric and colorectal cancers in the Sabah population. 27221877 2016
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
0.010 GeneticVariation disease BEFREE Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome. 26482462 2016
CUI: C3887524
Disease: Skin Erosion
Skin Erosion
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
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.010 GeneticVariation disease BEFREE Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome. 26482462 2016
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
0.010 Biomarker disease BEFREE Combining ß-lapachone with XRCC1 knockdown or methoxyamine (MeOX), an apyrimidinic/apurinic (AP)-modifying agent, led to NQO1-dependent synergistic killing in PDA, NSCLC, breast and head and neck cancers. 26602448 2015
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.010 GeneticVariation disease BEFREE Haplotypes of both polymorphisms of the XRCC1 were associated with FECD occurrence. 26388025 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation group BEFREE Our findings provide evidence for a contributory role of XRCC1 gene rs25487 variant in the development of hypertension, and this variant possibly acted in a recessive pattern. 25529925 2015
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
0.010 GeneticVariation disease BEFREE XRCC1 A1196G was associated with the incidence of lymphopenia (p = 0.024) and diarrhea (p = 0.020). 26033426 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 GeneticVariation disease BEFREE XRCC1 Arg/Gln+Gln/Gln genotype increased the risk of MS. 26562193 2015
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.010 GeneticVariation disease BEFREE We aimed to investigate the impact of 135G>C RAD51 and XRCC1 Arg399Gln polymorphisms on ovarian carcinoma risk in Serbian women. 26406958 2015
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B
0.010 GeneticVariation disease BEFREE Nine single nucleotide polymorphisms (SNPs) of XRCC1 (X-ray repair cross-complementing 1), CD3EAP (CD3e molecule, epsilon associated protein), PPP1R13L (protein phosphatase 1, regulatory subunit 13 like), XPB (Xeroderma pigmentosum group B), XPC (Xeroderma pigmentosum group C) and XPF (Xeroderma pigmentosum group F) were genotyped by the Snapshot and TaqMan-MGB® probe techniques, in a study involving 102 CBP patients and 204 controls. 26681190 2015
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
0.010 GeneticVariation disease BEFREE Nine single nucleotide polymorphisms (SNPs) of XRCC1 (X-ray repair cross-complementing 1), CD3EAP (CD3e molecule, epsilon associated protein), PPP1R13L (protein phosphatase 1, regulatory subunit 13 like), XPB (Xeroderma pigmentosum group B), XPC (Xeroderma pigmentosum group C) and XPF (Xeroderma pigmentosum group F) were genotyped by the Snapshot and TaqMan-MGB® probe techniques, in a study involving 102 CBP patients and 204 controls. 26681190 2015
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia
0.010 Biomarker disease BEFREE Various combinations of the keywords and MeSH terms were used to screen for potentially relevant studies, specifically "genetic polymorphisms" or "SNPs" or "variation" or "single nucleotide polymorphism" or "polymorphism" or "mutation" or "variant"; "X-ray repair cross complementing protein 1" or "Xeroderma Pigmentosum Group D Protein" or "X-ray repair cross complementing protein 1" or "Xeroderma Pigmentosum Group D Protein" or "XPD" or "Xeroderma Pigmentosum Complementation Group D Protein" or "ERCC2" or "XRCC1" or "XRCC1 DNA repair protein"; and "Cataract" or " Membranous Cataract" or " Pseudoaphakia." 25873778 2015
CUI: C0553694
Disease: Oropharyngeal disorders
Oropharyngeal disorders
0.010 GeneticVariation group BEFREE For polymorphism XRCC1 Arg399Gln, multivariate analysis showed that the 399Gln allele increased the risk of local disease relapse for irradiated oral and oropharyngeal patients (OR = 3.35; CI = 1.10-10.13) by over 3-fold. 26505394 2015
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.010 GeneticVariation disease BEFREE Renal cell carcinoma with rhabdoid differentiation (RCC-R) in adult patients is an aggressive variant of renal cancer with no known specific genetic alterations. 25439741 2015
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.010 GeneticVariation disease BEFREE Renal cell carcinoma with rhabdoid differentiation (RCC-R) in adult patients is an aggressive variant of renal cancer with no known specific genetic alterations. 25439741 2015
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1
0.010 Biomarker disease BEFREE Combining ß-lapachone with XRCC1 knockdown or methoxyamine (MeOX), an apyrimidinic/apurinic (AP)-modifying agent, led to NQO1-dependent synergistic killing in PDA, NSCLC, breast and head and neck cancers. 26602448 2015
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 GeneticVariation disease BEFREE No significant difference was observed in the genotype and allele distribution of eNOS -786T > C, intron 4a4b, p22phox 242C > T and XRCC1 Arg399Gln polymorphisms between T2DM groups with and without DN. 25041504 2014
CUI: C0018081
Disease: Gonorrhea
Gonorrhea
0.010 GeneticVariation disease BEFREE Our meta-analysis findings revealed that GC patients with the GA+AA (A carrier) genotypes of XRCC1 Arg399Gln showed a lower effective clinical response (CR+PR) than those with the GG (A non-carrier) genotype (OR=0.41, 95 % CI 0.20∼0.82, P=0.012). 24590266 2014
CUI: C0022578
Disease: Keratoconus
Keratoconus
0.010 GeneticVariation disease BEFREE The A/G genotype and the A allele of the c.1196A>G polymorphism of the X-ray repair cross-complementing group 1 (XRCC1) were associated with increased, and the G/G genotype and the G allele, with decreased KC occurrence. 25356504 2014
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.010 AlteredExpression disease BEFREE These results corroborate the presence of genomic instability in SSc peripheral blood cells, as evaluated by increased DNA damage, and show that polymorphic sites of the XRCC1 and XRCC4 DNA repair genes may differentially influence DNA damage and the development of autoantibodies. 24488411 2014
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.010 GeneticVariation group BEFREE In contrast, no statistically significant differences were found in genotype distributions of X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1) and XPG between migraine cases and controls (p>0.05). 24892639 2014
CUI: C0153392
Disease: Malignant neoplasm of nasopharynx
Malignant neoplasm of nasopharynx
0.010 GeneticVariation disease BEFREE Our study provides an estimate of allele and genotype frequencies of XRCC1Arg280His, XRCC1 Arg399Gln and XPD Lys751Gln polymorphisms in the Malaysian population and showed no association with nasopharyngeal cancer. 24761895 2014
Congenital contractural arachnodactyly
0.010 GeneticVariation disease BEFREE Our results suggest that, in the Thai population, polymorphisms in XRCC1 and OGG1 genes, particularly in combination, are associated with increased susceptibility to CCA, and that their role as modifiers of the effect of smoking and alcohol consumption influences the risk of CCA. 25335960 2014
CUI: C0238301
Disease: Cancer of Nasopharynx
Cancer of Nasopharynx
0.010 GeneticVariation disease BEFREE Our study provides an estimate of allele and genotype frequencies of XRCC1Arg280His, XRCC1 Arg399Gln and XPD Lys751Gln polymorphisms in the Malaysian population and showed no association with nasopharyngeal cancer. 24761895 2014