LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865370
Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation 		0.310 Biomarker disease BEFREE DNA ligase 4 deficiency (LIG4-SCID) causes lymphopenia (T-B-NK<sup>+</sup>) and a radiosensitive SCID (RS-SCID) phenotype. 30061307 2018
CUI: C1865370
Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation 		0.310 Biomarker disease GENOMICS_ENGLAND A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. 16357942 2006