rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.
7874174
1994
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.
8733126
1996
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.
8878438
1996
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.
8702647
1996
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
8813042
1996
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.
9253358
1997
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.
9661634
1998
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.
9920108
1999
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.
10487661
1999
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.
12107202
2002
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.
12050233
2002
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.
12241879
2002
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.
12915654
2003
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.
12574188
2003
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia.
15551332
2005
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.
16608894
2006
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
22789683
2012
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.
23169696
2013
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
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
rs121909261
×
Entrez Id:
846
Gene Symbol:
CASR
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
0.700
GeneticVariation
UNIPROT
Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
25766501
2015