CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893700
rs104893700
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C1832615
Disease:
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation UNIPROT Structural mechanism of ligand activation in human calcium-sensing receptor. 27434672 2016
dbSNP: rs104893700
rs104893700
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C1832615
Disease:
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation UNIPROT Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene. 17555508 2007
dbSNP: rs104893700
rs104893700
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C1832615
Disease:
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation UNIPROT Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. 15572418 2005
dbSNP: rs104893700
rs104893700
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C1832615
Disease:
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation UNIPROT Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. 14985373 2004
dbSNP: rs104893700
rs104893700
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C1832615
Disease:
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation UNIPROT Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. 9253359 1997
dbSNP: rs104893700
rs104893700
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C1832615
Disease:
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation UNIPROT Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. 8878438 1996
dbSNP: rs104893700
rs104893700
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C1832615
Disease:
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.800 GeneticVariation UNIPROT Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. 8675635 1995
dbSNP: rs104893700
rs104893700
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C1832615
Disease:
HYPERPARATHYROIDISM, NEONATAL SEVERE 		A 0.800 CausalMutation CLINVAR