LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: Decreased antibody level in blood ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		0.100 CausalMutation phenotype CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		0.100 CausalMutation phenotype CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001