CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: Nephrocalcinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.120 GeneticVariation disease BEFREE Autosomal dominant hypocalcaemic hypercalciuric nephrocalcinosis is an extremely rare clinical condition caused by an activating mutation of calcium-sensing receptor. 24428838 2014
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.120 GeneticVariation disease BEFREE Persistent hypercalciuria, with the attendant risk of nephrocalcinosis and eventual renal failure, is common in hypoparathyroid patients, especially those with activating mutations of the calcium-sensing receptor (CASR) gene, being treated with oral calcium and calcitriol. 16608894 2006
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.120 Biomarker disease HPO