CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893689
rs104893689
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. 26386835 2016
dbSNP: rs104893689
rs104893689
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT Structural mechanism of ligand activation in human calcium-sensing receptor. 27434672 2016
dbSNP: rs104893689
rs104893689
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation BEFREE The common NHPT CaSR mutants R185Q and R227L were compared with 15 mutants causing only FHH in the heterozygous state. 27666534 2016
dbSNP: rs121909262
rs121909262
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. 26386835 2016
dbSNP: rs121909262
rs121909262
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT Structural mechanism of ligand activation in human calcium-sensing receptor. 27434672 2016
dbSNP: rs28936684
rs28936684
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C1832615
Disease:
HYPERPARATHYROIDISM, NEONATAL SEVERE
0.810 GeneticVariation BEFREE The common NHPT CaSR mutants R185Q and R227L were compared with 15 mutants causing only FHH in the heterozygous state. 27666534 2016
dbSNP: rs28936684
rs28936684
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation BEFREE The common NHPT CaSR mutants R185Q and R227L were compared with 15 mutants causing only FHH in the heterozygous state. 27666534 2016
dbSNP: rs104893689
rs104893689
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
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
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
A 0.810 CausalMutation CLINVAR Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. 26161261 2015
dbSNP: rs104893689
rs104893689
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population. 25104082 2014
dbSNP: rs104893689
rs104893689
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. 25292184 2014
dbSNP: rs104893689
rs104893689
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
A 0.810 CausalMutation CLINVAR Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. 24203066 2014
dbSNP: rs121909262
rs121909262
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. 25292184 2014
dbSNP: rs121909262
rs121909262
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population. 25104082 2014
dbSNP: rs104893689
rs104893689
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT 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: rs121909262
rs121909262
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT 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: rs104893689
rs104893689
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
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
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. 21643651 2012
dbSNP: rs104893689
rs104893689
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
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: rs121909262
rs121909262
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. 21643651 2012
dbSNP: rs104893689
rs104893689
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
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
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia. 21566075 2011
dbSNP: rs104893689
rs104893689
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude. 22114145 2011
dbSNP: rs121909262
rs121909262
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia. 21566075 2011
dbSNP: rs121909262
rs121909262
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0342637
Disease:
Hypocalciuric hypercalcemia, familial, type 1
0.810 GeneticVariation UNIPROT Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude. 22114145 2011