LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: Combined immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.320 Biomarker disease BEFREE This study enrolled seven Chinese patients with LIG4 deficiency who presented with combined immunodeficiency, microcephaly, and growth retardation. 26762768 2016
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.320 GeneticVariation disease BEFREE A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. 16585603 2006
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.320 Biomarker disease GENOMICS_ENGLAND