CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: idiopathic epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy 		0.020 Biomarker disease BEFREE Mutation(s) identified in chronic pancreatitis and idiopathic epilepsy syndrome therefore increase plasma membrane targeting of CaSR, likely contributing to the altered Ca(2+) signaling characteristic of these diseases. 20798521 2010
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy 		0.020 GeneticVariation disease BEFREE An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. 18756473 2008