CD40, CD40 molecule, 958

N. diseases: 528; N. variants: 21
Disease: Light Fixation Seizure Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863767
Disease: Light Fixation Seizure Syndrome
Light Fixation Seizure Syndrome 		0.020 AlteredExpression disease BEFREE The use of this method to edit X-HIGM patient T cells restored normal expression of CD40L and CD40-murine IgG Fc fusion protein (CD40-muIg) binding, and rescued IgG class switching of naive B cells in vitro. 26903548 2016
CUI: C1863767
Disease: Light Fixation Seizure Syndrome
Light Fixation Seizure Syndrome 		0.020 GeneticVariation disease BEFREE Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features. 15661021 2005