Gene: CASR ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Structural mechanism of ligand activation in human calcium-sensing receptor. 27434672 2016
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. 26963950 2016
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype. 27666534 2016
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases. 27390877 2016
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation. 25091521 2015
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia. 25766501 2015
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. 26161261 2015
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. 24203066 2014
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia. 24947037 2014
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 GeneticVariation disease CLINVAR Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. 24297799 2014
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 GeneticVariation disease BEFREE Most cases of autosomal dominant hypoparathyroidism (ADH) are caused by gain-of-function mutations in CASR or dominant inhibitor mutations in GCM2 or PTH. 24823460 2014
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 AlteredExpression disease BEFREE DNA sequence analysis of the CASR gene was undertaken in autosomal dominant hypoparathyroidism and familial hypocalciuric hypercalcemia Japanese patients, and the functional consequences for the Gi-MAPK pathway and cell surface expression of CASR were determined. 23966241 2013
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143. 23966241 2013
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 GeneticVariation disease CLINVAR Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor. 22798347 2012
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor. 22798347 2012
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. 22422767 2012
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor. 23077345 2012
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism. 21521328 2011
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Neonatal severe hyperparathyroidism: further clinical and molecular delineation. 20972686 2011
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 GeneticVariation disease CLINVAR Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey. 21645025 2011
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet. 21289269 2011
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 GeneticVariation disease CLINVAR Characterization of highly efficacious allosteric agonists of the human calcium-sensing receptor. 21239511 2011
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 CausalMutation disease CLINVAR Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. 20164288 2010
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 GeneticVariation disease CLINVAR Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif. 20798521 2010
Entrez Id: 846
Gene Symbol: CASR
CASR 		0.190 GeneticVariation disease BEFREE Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. 18712808 2009