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: C0745106
Disease: hyperparathyroid
hyperparathyroid
0.020 Biomarker disease BEFREE We suggest that the best diagnostic approach to hyperparathyroid hypercalcemic patients suspected to have FHH is to screen the CASR and AP2S1 codon 15 for mutations. 27913609 2017
CUI: C0745106
Disease: hyperparathyroid
hyperparathyroid
0.020 Biomarker disease BEFREE This kind of pharmacological manipulation of the CaR is now used for the treatment of hyperparathyroid states, whereby the calcimimetics increase the activation of the CaR at any given level of extracellular calcium. 16919492 2006