CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
0.310 GeneticVariation disease BEFREE Four additional, potentially pathogenic, missense CASR variants, Glu354Ala, Ile686Val, Ala988Val, and Ala988Gly, were observed in five individuals affected with idiopathic generalized epilepsy. 18756473 2008
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
0.310 Biomarker disease CTD_human