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 		T 0.810 CausalMutation CLINVAR
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		T 0.810 CausalMutation CLINVAR
dbSNP: rs104894418
rs104894418
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.710 CausalMutation CLINVAR
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0026764
Disease:
Multiple Myeloma 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0023418
Disease:
leukemia 		0.700 GeneticVariation UNIPROT
dbSNP: rs1060499662
rs1060499662
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs587776663
rs587776663
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs751070095
rs751070095
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs751409106
rs751409106
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0238463
Disease:
Papillary thyroid carcinoma 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs772226399
rs772226399
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		C 0.700 CausalMutation CLINVAR
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: C1306459
Disease:
Primary malignant neoplasm 		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: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. 16357942 2006
dbSNP: rs780879476
rs780879476
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. 16357942 2006
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 16088910 2005
dbSNP: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.700 CausalMutation CLINVAR A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 16088910 2005
dbSNP: rs780879476
rs780879476
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		G 0.700 CausalMutation CLINVAR A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 16088910 2005
dbSNP: rs780879476
rs780879476
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. 16088910 2005
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: 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: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C1847827
Disease:
LIG4 Syndrome 		A 0.700 CausalMutation CLINVAR 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: rs104894419
rs104894419
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms. 15333585 2004
dbSNP: rs780879476
rs780879476
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms. 15333585 2004
dbSNP: rs2232641
rs2232641
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0302592
Disease:
Cervix carcinoma 		0.010 GeneticVariation BEFREE Analyzing the risk of variant LIG4 Ile658Val genotypes for cervical carcinoma of different histologic types or HPV infection status, we found striking similarities between the squamous cell carcinoma group and the HPV-positive group and the overall carcinoma. 20400235 2010