CD40, CD40 molecule, 958

N. diseases: 528; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267971
Disease: Storage disease
Storage disease
0.010 Biomarker group BEFREE These results give new important insights into the molecular pathogenesis of HIGM disease, and suggest that CD40 deficiency can also be regarded as an ER-storage disease. 20702779 2010