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: rs1805388
rs1805388
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0017638
Disease:
Glioma
0.020 GeneticVariation BEFREE Interestingly, we detected a significant additive and multiplicative interaction effect between the LIG</span>4 rs1805388 and XRCC4 rs1805377 polymorphisms with an increasing risk of gliomas. 23663450 2013
dbSNP: rs10131
rs10131
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE We found that GA+AA of LIG4 rs10131 was associated with increased risk of glioma in those without family history of cancer, and the OR (95% CI) was 1.78 (1.12-2.83). 25973104 2015
dbSNP: rs10131
rs10131
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE We found that GA+AA of LIG4 rs10131 was associated with increased risk of glioma in those without family history of cancer, and the OR (95% CI) was 1.78 (1.12-2.83). 25973104 2015
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0557874
Disease:
Global developmental delay
0.010 GeneticVariation BEFREE When combined with the otherwise mild R278H mutation, the activity is reduced to a level similar to other LIG4 patients who display immunodeficiency and developmental delay. 15333585 2004
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0424605
Disease:
Developmental delay (disorder)
0.010 GeneticVariation BEFREE When combined with the otherwise mild R278H mutation, the activity is reduced to a level similar to other LIG4 patients who display immunodeficiency and developmental delay. 15333585 2004
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE In conclusion, our results suggest that hOGG1 Ser326Cys polymorphism may contribute to the susceptibility to bladder cancer in a Chinese population. 22463382 2012
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0030319
Disease:
Panic Disorder
0.010 GeneticVariation BEFREE GPX1 Pro198Leu and OGG1 Ser326Cys polymorphisms were not associated with PD risk in Turkish patients. 25666858 2015
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE In conclusion, our results suggest that hOGG1 Ser326Cys polymorphism may contribute to the susceptibility to bladder cancer in a Chinese population. 22463382 2012
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE In conclusion, our results suggest that hOGG1 Ser326Cys polymorphism may contribute to the susceptibility to bladder cancer in a Chinese population. 22463382 2012
dbSNP: rs1326656542
rs1326656542
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0026769
Disease:
Multiple Sclerosis
0.010 GeneticVariation BEFREE Our data suggested that OGG1 Ser326Cys gene polymorphism is a major genetic factor involved in the development of MS. 26562193 2015
dbSNP: rs1332784619
rs1332784619
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome
0.010 GeneticVariation BEFREE The Lig4(Y288C) mouse, identified by means of a mutagenesis screening programme, is a mouse model for human LIG4 syndrome, showing immunodeficiency and growth retardation. 17554302 2007
dbSNP: rs143810759
rs143810759
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE In this study, XPD G23591A (Asp312Asn) and A35931C (Lys751Gln) polymorphisms and the CCND1 G870A splice variant frequencies were determined in 273 upper aero-digestive tract cancer cases and 269 controls. 15754315 2005
dbSNP: rs143810759
rs143810759
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.010 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: C0086543
Disease:
Cataract
0.010 GeneticVariation BEFREE This is the first report on the association of XPD Asp312Asn polymorphism with maturity onset cataract. 21245954 2011
dbSNP: rs143810759
rs143810759
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE In this study, XPD G23591A (Asp312Asn) and A35931C (Lys751Gln) polymorphisms and the CCND1 G870A splice variant frequencies were determined in 273 upper aero-digestive tract cancer cases and 269 controls. 15754315 2005
dbSNP: rs143810759
rs143810759
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C2316810
Disease:
Chronic kidney disease stage 5
0.010 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: rs1805386
rs1805386
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE The results showed no association between LIG4 gene polymorphisms (rs1805386 T>C, rs1805389 C>T, rs1805388 C>T and rs2232641 A>G) and breast cancer risk, suggesting that the mutant situation of these SNPs neither increased nor decreased the risk for breast cancer. 22994770 2012
dbSNP: rs1805386
rs1805386
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE In conclusion, despite several limitations, this meta-analysis suggested that LIG4 T9I genetic variant is associated with a decreased risk of cancer among Caucasians, however, the rs1805386 gene polymorphism is not a risk factor of cancer. 25314918 2014
dbSNP: rs1805386
rs1805386
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE In conclusion, despite several limitations, this meta-analysis suggested that LIG4 T9I genetic variant is associated with a decreased risk of cancer among Caucasians, however, the rs1805386 gene polymorphism is not a risk factor of cancer. 25314918 2014
dbSNP: rs1805386
rs1805386
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The results showed no association between LIG4 gene polymorphisms (rs1805386 T>C, rs1805389 C>T, rs1805388 C>T and rs2232641 A>G) and breast cancer risk, suggesting that the mutant situation of these SNPs neither increased nor decreased the risk for breast cancer. 22994770 2012
dbSNP: rs1805388
rs1805388
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME
0.010 GeneticVariation BEFREE We found that the rs228593, rs2267437 and rs1805388 functional polymorphisms probably alter the level of expression of the ATM, XRCC6 and LIG4 genes, respectively, being important in the maintenance of genomic instability in MDS. 27497341 2016
dbSNP: rs1805388
rs1805388
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The results showed no association between LIG4 gene polymorphisms (rs1805386 T>C, rs1805389 C>T, rs1805388 C>T and rs2232641 A>G) and breast cancer risk, suggesting that the mutant situation of these SNPs neither increased nor decreased the risk for breast cancer. 22994770 2012
dbSNP: rs1805388
rs1805388
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0021364
Disease:
Male infertility
0.010 GeneticVariation BEFREE This study demonstrates, for the first time, to our knowledge, that functional variants of RAG1 rs2227973 and LIG4 rs1805388 are associated with susceptibility to male infertility. 23630330 2013
dbSNP: rs1805388
rs1805388
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE A growing number of studies have investigated the relevance of LIG4 T9I (rs1805388) and D501D (rs1805386) polymorphisms with cancer risk, however, the results are conflicting. 25314918 2014
dbSNP: rs1805388
rs1805388
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE The results showed no association between LIG4 gene polymorphisms (rs1805386 T>C, rs1805389 C>T, rs1805388 C>T and rs2232641 A>G) and breast cancer risk, suggesting that the mutant situation of these SNPs neither increased nor decreased the risk for breast cancer. 22994770 2012