CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: Pseudo-Bartter syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0853277
Disease: Pseudo-Bartter syndrome
Pseudo-Bartter syndrome 		0.010 GeneticVariation disease BEFREE Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting of autosomal dominant hypocalcemia disorders, sometimes with a presentation of pseudo-Bartter's syndrome. 28122587 2017