LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 GeneticVariation phenotype BEFREE Mutations of Lig4 are exclusively hypomorphic and have only been described in six patients, four exhibiting mild immunodeficiency associated with microcephaly and developmental delay, while two patient had leukemia. 16358361 2006
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 GeneticVariation phenotype BEFREE DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001