rs104894419, LIG4

N. diseases: 8
Disease: PITUITARY DWARFISM I ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PITUITARY DWARFISM I
CUI: C0342573
Disease: PITUITARY DWARFISM I
0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
PITUITARY DWARFISM I
CUI: C0342573
Disease: PITUITARY DWARFISM I
0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001