LIG4, DNA ligase 4, 3981

N. diseases: 293; N. variants: 24
Disease: PITUITARY DWARFISM I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.100 CausalMutation disease CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.100 CausalMutation disease CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001