LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023418
Disease: leukemia
leukemia
0.340 AlteredExpression disease BEFREE Phosphorylated Sp1 is the regulator of DNA-PKcs and DNA ligase IV transcription of daunorubicin-resistant leukemia cell lines. 24530422 2014
CUI: C0023418
Disease: leukemia
leukemia
0.340 GeneticVariation disease BEFREE Mutations of Lig4 are exclusively hypomorphic and have only been described in six patients, four exhibiting mild immunodeficiency associated with microcephaly and developmental delay, while two patient had leukemia. 16358361 2006
CUI: C0023418
Disease: leukemia
leukemia
0.340 GeneticVariation disease BEFREE We investigated the potential impact that previously undescribed polymorphisms identified within NHEJ DNA ligase IV (LIG4) have upon predisposition to several lymphoproliferative disorders, including leukaemia, lymphoma, and multiple myeloma. 12471202 2002
CUI: C0023418
Disease: leukemia
leukemia
0.340 Biomarker disease BEFREE Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. 10395545 1999
CUI: C0023418
Disease: leukemia
leukemia
0.340 GeneticVariation disease UNIPROT