CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: Hypoparathyroidism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.500 GeneticVariation disease BEFREE Gain-of-function mutations in the calcium-sensing receptor are associated with a familial syndrome of hypocalcemia with hypercalciuria that needs to be distinguished from hypoparathyroidism. 8813042 1996
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.500 CausalMutation disease CLINVAR Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. 7726161 1995