LIG1, DNA ligase 1, 3978

N. diseases: 30; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.310 GeneticVariation disease BEFREE In order to examine the association of common genetic variation in the base-excision repair (BER) pathway with bladder cancer risk, we analyzed 43 single nucleotide polymorphisms (SNPs) in 12 BER genes (OGG1, MUTYH, APEX1, PARP1, PARP3, PARP4, XRCC1, POLB, POLD1, PCNA, LIG1, and LIG3). 17203305 2007
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.310 GeneticVariation disease BEFREE In order to examine the association of common genetic variation in the base-excision repair (BER) pathway with bladder cancer risk, we analyzed 43 single nucleotide polymorphisms (SNPs) in 12 BER genes (OGG1, MUTYH, APEX1, PARP1, PARP3, PARP4, XRCC1, POLB, POLD1, PCNA, LIG1, and LIG3). 17203305 2007
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.310 Biomarker disease CTD_human Biochemical characterization of a mitomycin C-resistant human bladder cancer cell line. 8631603 1996
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.310 Biomarker disease CTD_human Biochemical characterization of a mitomycin C-resistant human bladder cancer cell line. 8631603 1996
CUI: C4016019
Disease: DNA Ligase I Deficiency
DNA Ligase I Deficiency 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. 1581963 1992
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 AlteredExpression disease BEFREE Bloom syndrome and a clinically related syndrome represented by the cell line 46BR have been associated with reduction in DNA ligase I activity. 8254190 1994
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease BEFREE However, genetic analysis has not revealed any differences in transcript levels or in the cDNA sequences of DNA ligase I between Bloom's syndrome and normal cells. 7683758 1993
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease BEFREE The molecular defects in AT and BS are unknown, while 46BR is known to be DNA ligase I deficient. 7902391 1993
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease BEFREE DNA sequencing and Northern blot analysis of DNA ligase I expression in two BS human fibroblast lines representing each of the two aberrant DNA ligase I molecular phenotypes demonstrated that this gene was unchanged in BS cells. 1881902 1991
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease BEFREE These findings suggest that there may exist among BS LCLs at least two types of subtle abnormality of DNA ligase I itself and/or a putative substance modulating the enzyme function. 1900268 1991
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 AlteredExpression disease BEFREE Altered DNA ligase I activity has been found in cell lines from patients with Bloom's syndrome, although a causal link between the enzyme deficiency and the disease has not yet been proven. 2204827 1990
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 AlteredExpression disease BEFREE The BS cell lines we studied were reported to contain reduced in vitro activity of DNA ligase I. 2767047 1989
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 GeneticVariation disease BEFREE The cell line 46BR probably has a mutation in the gene encoding DNA ligase I different from those occurring in classical cases of Bloom's syndrome. 3180052 1988
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 GeneticVariation disease BEFREE These results suggest that mutation of the DNA ligase I gene may account for the primary metabolic defect in BS. 3192533 1988
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease BEFREE The data indicate that Bloom syndrome is due to a defect in the structure of DNA ligase I caused by a "leaky" point mutation occurring at one of at least two alternative sites. 3479778 1987
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.060 GeneticVariation disease BEFREE Our meta-analysis suggested that the rs156641 polymorphism in the LIG1 gene might be associated with an increased risk of lung cancer. 27352326 2015
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.060 GeneticVariation disease BEFREE Our meta-analysis suggested that the rs156641 polymorphism in the LIG1 gene might be associated with an increased risk of lung cancer. 27352326 2015
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.060 GeneticVariation disease BEFREE Our meta-analysis suggested that the rs156641 polymorphism in the LIG1 gene might be associated with an increased risk of lung cancer. 27352326 2015
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.060 GeneticVariation disease BEFREE Individuals carrying the LIG1 rs1050298 T genotype had higher risks of lung cancer, especially those with squamous cell carcinoma. 24929328 2014
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.060 GeneticVariation disease BEFREE Individuals carrying the LIG1 rs1050298 T genotype had higher risks of lung cancer, especially those with squamous cell carcinoma. 24929328 2014
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.060 GeneticVariation disease BEFREE Individuals carrying the LIG1 rs1050298 T genotype had higher risks of lung cancer, especially those with squamous cell carcinoma. 24929328 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.060 GeneticVariation disease BEFREE In addition, rs3730859 in LIG1 was also moderately associated with increased risk for lung cancer among Caucasian smokers. 22139380 2012
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.060 GeneticVariation disease BEFREE In addition, rs3730859 in LIG1 was also moderately associated with increased risk for lung cancer among Caucasian smokers. 22139380 2012
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.060 GeneticVariation disease BEFREE In addition, rs3730859 in LIG1 was also moderately associated with increased risk for lung cancer among Caucasian smokers. 22139380 2012