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: rs104893706
rs104893706
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia. 25766501 2015
dbSNP: rs104893708
rs104893708
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia. 25766501 2015
dbSNP: rs121909267
rs121909267
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia. 25766501 2015
dbSNP: rs104893706
rs104893706
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 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: rs104893706
rs104893706
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 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: rs104893708
rs104893708
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 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: rs104893708
rs104893708
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 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: rs121909267
rs121909267
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 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: rs121909267
rs121909267
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 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: rs104893706
rs104893706
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT CASR gene activating mutations in two families with autosomal dominant hypocalcemia. 22789683 2012
dbSNP: rs104893708
rs104893708
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT CASR gene activating mutations in two families with autosomal dominant hypocalcemia. 22789683 2012
dbSNP: rs121909267
rs121909267
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT CASR gene activating mutations in two families with autosomal dominant hypocalcemia. 22789683 2012
dbSNP: rs104893706
rs104893706
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 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: rs104893708
rs104893708
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 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: rs121909267
rs121909267
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 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: rs104893706
rs104893706
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 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: rs104893708
rs104893708
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 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: rs121909267
rs121909267
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 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: rs104893706
rs104893706
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. 12915654 2003
dbSNP: rs104893706
rs104893706
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. 12574188 2003
dbSNP: rs104893708
rs104893708
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. 12574188 2003
dbSNP: rs104893708
rs104893708
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. 12915654 2003
dbSNP: rs121909267
rs121909267
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. 12915654 2003
dbSNP: rs121909267
rs121909267
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. 12574188 2003
dbSNP: rs104893706
rs104893706
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C3715128
Disease:
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.800 GeneticVariation UNIPROT Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. 12241879 2002