ADAM22, ADAM metallopeptidase domain 22, 53616

N. diseases: 35; N. variants: 4
Disease: Familial Epilepsies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778672052
rs778672052
Entrez Id: 53616;105375386
Gene Symbol: ADAM22;LOC105375386
ADAM22;LOC105375386
CUI: C0391958
Disease:
Familial Epilepsies 		0.010 GeneticVariation BEFREE A pathogenic R474Q mutation of LGI1, which does not exceptionally affect either the secretion or the ADAM22 binding, is located in the LGI1-LGI1 interface and disrupts the higher-order assembly of the LGI1-ADAM22 complex in vitro and in a mouse model for familial epilepsy. 29670100 2018