LIG1, DNA ligase 1, 3978

N. diseases: 30; N. variants: 8
Disease: DNA Ligase I Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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