Gene: CASR ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation 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
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. 26161261

2015
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. 24203066

2014
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation 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
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor. 22798347

2012
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet. 21289269

2011
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. 18751724

2009
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Effect of the calcimimetic R-568 [3-(2-chlorophenyl)-N-((1R)-1-(3-methoxyphenyl)ethyl)-1-propanamine] on correcting inactivating mutations in the human calcium-sensing receptor. 19759318

2009
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Rescue of calcium-sensing receptor mutants by allosteric modulators reveals a conformational checkpoint in receptor biogenesis. 17284438

2007
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR [Percutaneous tenotomy of achilles tendon in the treatment of congenital clubfeet--a preliminary report]. 15751724

2004
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Three adjacent serines in the extracellular domains of the CaR are required for L-amino acid-mediated potentiation of receptor function. 12095982

2002
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR L-phenylalanine and NPS R-467 synergistically potentiate the function of the extracellular calcium-sensing receptor through distinct sites. 12114500

2002
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. 9011580

1997
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. 8702647

1996
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 7916660

1993
dbSNP: rs104893689
rs104893689
CASR
A 0.810 CausalMutation CLINVAR A comparison of the abilities of typical neuroleptic agents and of thioridazine, clozapine, sulpiride and metoclopramide to antagonise the hyperactivity induced by dopamine applied intracerebrally to areas of the extrapyramidal and mesolimbic systems. 791660

1976
dbSNP: rs121909262
rs121909262
CASR
G 0.810 CausalMutation CLINVAR

dbSNP: rs28936684
rs28936684
CASR
A 0.810 CausalMutation CLINVAR

dbSNP: rs121909259
rs121909259
CASR
A 0.800 CausalMutation CLINVAR Structural mechanism of ligand activation in human calcium-sensing receptor. 27434672

2016
dbSNP: rs201851934
rs201851934
CASR
G 0.800 CausalMutation CLINVAR Structural mechanism of ligand activation in human calcium-sensing receptor. 27434672

2016
dbSNP: rs201851934
rs201851934
CASR
G 0.800 CausalMutation 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
dbSNP: rs121909259
rs121909259
CASR
A 0.800 CausalMutation CLINVAR Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor. 23077345

2012
dbSNP: rs201851934
rs201851934
CASR
G 0.800 CausalMutation 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
dbSNP: rs121909259
rs121909259
CASR
A 0.800 CausalMutation CLINVAR Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager. 19423559

2009
dbSNP: rs201851934
rs201851934
CASR
G 0.800 CausalMutation CLINVAR Two novel mutations causing familial benign hypocalciuric hypercalcaemia in three Scottish families. 20034274

2009