CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 Biomarker disease GENOMICS_ENGLAND Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update. 28740527 2019
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease BEFREE Mutations in the CaSR gene may lead to specific parathyroid disorders due to either gain-of-function (autosomal dominant hypercalciuric hypocalcemia; ADHH) or loss-of-function (familial hypocalciuric hypercalcemia; FHH). 25091521 2015
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia. 25766501 2015
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease 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
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease 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
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GermlineCausalMutation disease ORPHANET CASR gene activating mutations in two families with autosomal dominant hypocalcemia. 22789683 2012
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT CASR gene activating mutations in two families with autosomal dominant hypocalcemia. 22789683 2012
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 19179454 2009
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone. 16608894 2006
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 Biomarker disease GENOMICS_ENGLAND Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. 17048213 2006
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 AlteredExpression disease BEFREE In gain-of-function CaSR mutations, the genetic abnormalities increase CaSR activity leading to the development of such clinical manifestations as hypercalciuric hypocalcemia and hypoparathyroidism. 15960151 2005
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia. 15551332 2005
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 Biomarker disease MGD Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. 15347804 2004
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GermlineCausalMutation disease ORPHANET A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene. 12733714 2003
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. 12574188 2003
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. 12915654 2003
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT In conclusion, two sporadic cases of hypercalciuric hypocalcemia were due to de novo gain-of-function mutations of the CaR gene. 12107202 2002
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. 12241879 2002
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease 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
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GermlineCausalMutation disease ORPHANET A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. 9920108 1999
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. 9920108 1999
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. 10487661 1999
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. 9661634 1998
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor. 9253358 1997
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		0.920 GeneticVariation disease UNIPROT Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. 8702647 1996