CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2752062
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 		0.300 GeneticVariation disease UNIPROT An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. 18756473 2008