rs104894419, LIG4

N. diseases: 8
Disease: Dwarfism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394 2014
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494 2001