rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
Hypocalciuric hypercalcemia, familial, type 1
0.810
GeneticVariation
UNIPROT
Structural mechanism of ligand activation in human calcium-sensing receptor.
27434672
2016
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs121909262
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs121909262
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
Hypocalciuric hypercalcemia, familial, type 1
0.810
GeneticVariation
UNIPROT
Structural mechanism of ligand activation in human calcium-sensing receptor.
27434672
2016
rs28936684
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
Hypocalciuric hypercalcemia, familial, type 1
A
0.810
CausalMutation
CLINVAR
Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.
26161261
2015
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
Hypocalciuric hypercalcemia, familial, type 1
0.810
GeneticVariation
UNIPROT
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.
25292184
2014
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
Hypocalciuric hypercalcemia, familial, type 1
A
0.810
CausalMutation
CLINVAR
Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.
24203066
2014
rs121909262
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
Hypocalciuric hypercalcemia, familial, type 1
0.810
GeneticVariation
UNIPROT
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.
25292184
2014
rs121909262
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs121909262
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs121909262
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs121909262
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs121909262
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
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
rs104893689
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
Hypocalciuric hypercalcemia, familial, type 1
A
0.810
CausalMutation
CLINVAR
Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene.
18751724
2009