CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: Hypoparathyroidism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1385228926
rs1385228926
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0020626
Disease:
Hypoparathyroidism 		0.010 GeneticVariation BEFREE A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism. 14677060 2004