CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 GeneticVariation UNIPROT CASR gene activating mutations in two families with autosomal dominant hypocalcemia. 22789683 2012
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 GeneticVariation UNIPROT Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. 12241879 2002
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 GeneticVariation UNIPROT Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. 10487661 1999
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 GeneticVariation UNIPROT Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. 8878438 1996
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 GeneticVariation UNIPROT Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. 8733126 1996
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
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
dbSNP: rs104893702
rs104893702
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.700 GeneticVariation UNIPROT Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. 7874174 1994