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
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
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