LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894420
rs104894420
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome
0.810 GeneticVariation BEFREE Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation. 15333585 2004
dbSNP: rs104894420
rs104894420
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome
0.810 GeneticVariation UNIPROT DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome
0.810 GeneticVariation UNIPROT DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome
0.810 GeneticVariation BEFREE Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. 20133615 2010
dbSNP: rs104894418
rs104894418
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome
0.710 GeneticVariation BEFREE Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation. 15333585 2004
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0023418
Disease:
leukemia
0.700 GeneticVariation UNIPROT
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1306459
Disease:
Primary malignant neoplasm
0.030 GeneticVariation BEFREE Epidemiological studies show that the OGG1 might be a biomarker of susceptibility for various cancers; however, the small sample size and difference in the eligibility criteria for inclusion of subjects and sources might limit the studies to demonstrate the association between the OGG1 Ser326Cys polymorphism and the risk of cancer. 23081862 2014
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0006826
Disease:
Malignant Neoplasms
0.030 GeneticVariation BEFREE Epidemiological studies show that the OGG1 might be a biomarker of susceptibility for various cancers; however, the small sample size and difference in the eligibility criteria for inclusion of subjects and sources might limit the studies to demonstrate the association between the OGG1 Ser326Cys polymorphism and the risk of cancer. 23081862 2014
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1306459
Disease:
Primary malignant neoplasm
0.030 GeneticVariation BEFREE These results suggest that hOGG1 may play an important role in the repair of 8-OH-dG adducts in the aerodigestive tract and that the hOGG1 Ser326Cys polymorphism plays an important role in risk for smoking- and alcohol-related orolaryngeal cancer. 12117782 2002
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1306459
Disease:
Primary malignant neoplasm
0.030 GeneticVariation BEFREE Association between OGG1 Ser326Cys, XPC Lys939Gln, XPD Lys751Gln polymorphisms and the susceptibility tho cancer and the oxidative stress status were evaluated. 21390502 2011
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0006826
Disease:
Malignant Neoplasms
0.030 GeneticVariation BEFREE These results suggest that hOGG1 may play an important role in the repair of 8-OH-dG adducts in the aerodigestive tract and that the hOGG1 Ser326Cys polymorphism plays an important role in risk for smoking- and alcohol-related orolaryngeal cancer. 12117782 2002
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0006826
Disease:
Malignant Neoplasms
0.030 GeneticVariation BEFREE Association between OGG1 Ser326Cys, XPC Lys939Gln, XPD Lys751Gln polymorphisms and the susceptibility tho cancer and the oxidative stress status were evaluated. 21390502 2011
dbSNP: rs10131
rs10131
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0017638
Disease:
Glioma
0.020 GeneticVariation BEFREE In conclusion, our results suggest that LIG4 rs10131 polymorphism in the DNA repair pathways plays an important role in the risk of glioma in a Chinese population. 25973104 2015
dbSNP: rs10131
rs10131
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0017638
Disease:
Glioma
0.020 GeneticVariation BEFREE Finally, the gene-gene interaction analysis suggested that the three-locus model (rs1805388, rs10131, and rs2075685) was the best model for ligase IV and XRCC4 to have interaction effects on the risk of glioma. 27508978 2016
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE These results suggest that the hOGG1 Ser326Cys polymorphism plays an important role in the risk for lung cancer and is linked to exposure to tobacco smoke. 15077011 2004
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE These results suggest that the hOGG1 Ser326Cys polymorphism plays an important role in the risk for lung cancer and is linked to exposure to tobacco smoke. 15077011 2004
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE We demonstrated a novel, significant correlation between the hOGG1 Ser326Cys polymorphism and increased lung cancer susceptibility in Caucasians. 22855704 2012
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0684249
Disease:
Carcinoma of lung
0.020 GeneticVariation BEFREE We demonstrated a novel, significant correlation between the hOGG1 Ser326Cys polymorphism and increased lung cancer susceptibility in Caucasians. 22855704 2012
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0684249
Disease:
Carcinoma of lung
0.020 GeneticVariation BEFREE These results suggest that the hOGG1 Ser326Cys polymorphism plays an important role in the risk for lung cancer and is linked to exposure to tobacco smoke. 15077011 2004
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE We demonstrated a novel, significant correlation between the hOGG1 Ser326Cys polymorphism and increased lung cancer susceptibility in Caucasians. 22855704 2012
dbSNP: rs143810759
rs143810759
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.020 GeneticVariation BEFREE It was found that combination of the Arg/Gln or Gln/Gln genotypes of XRCC1 Arg399Gln polymorphism with the two possible genotypes of XPD-Asp312Asn or with the Lys/Gln or Gln/Gln genotypes of XPD Lys751Gln was significantly associated with the development of ESRD. 22302399 2012
dbSNP: rs143810759
rs143810759
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.020 GeneticVariation BEFREE Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to analyze XPD Asp312Asn and Lys751Gln and XRCC1 Arg194Trp and Arg399Gln in 120 patients with AMD (65 with dry type and 55 with wet type) and in age-matched 205 disease-free control subjects. 20375340 2010
dbSNP: rs1805388
rs1805388
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.020 GeneticVariation BEFREE The current results indicated that NHEJ genetic polymorphisms, particularly LIG4 rs1805388, may modulate the risk of RP in patients with NSCLC who receive definitive radio(chemo)therapy. 21717429 2012
dbSNP: rs1805388
rs1805388
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.020 GeneticVariation BEFREE Patients with NSCLC (n = 152) and a group of appropriate age-matched and sex-matched controls (n = 162) were subjected to genotype analysis of the NHEJ pathway genes x-ray repair complementing defective repair in Chinese hamster cells 6 (Ku70) (reference single nucleotide polymorphism number [rs] 2267437), x-ray repair complementing defective repair in Chinese hamster cells 5 (Ku80) (rs3835), x-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4) (rs1805377), and DNA ligase IV (LIG4) (rs1805388). 19408343 2009
dbSNP: rs1805388
rs1805388
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0017638
Disease:
Glioma
0.020 GeneticVariation BEFREE However, no association was found between variants of LIG4 rs1805388, XRCC4 rs2075685 and XRCC4 rs1805377 and development of glioma. 25973104 2015