LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: LIG4 Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		0.990 CausalMutation disease CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		0.990 Biomarker disease GENOMICS_ENGLAND DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		0.990 GeneticVariation disease UNIPROT DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		0.990 Biomarker disease CTD_human