LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: Developmental delay (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894421
rs104894421
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
CUI: C0424605
Disease:
Developmental delay (disorder) 		0.010 GeneticVariation BEFREE When combined with the otherwise mild R278H mutation, the activity is reduced to a level similar to other LIG4 patients who display immunodeficiency and developmental delay. 15333585 2004