CD40LG, CD40 ligand, 959

N. diseases: 453; N. variants: 25
Disease: Immunodeficiency congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0853602
Disease: Immunodeficiency congenital
Immunodeficiency congenital 		0.010 GeneticVariation disease BEFREE X-linked Hyper IgM Syndrome (HIM) is a rare congenital immunodeficiency recently demonstrated to be caused by a mutation in the gene encoding CD40 ligand. 11906038 2001