CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006705
Disease: Calcium Metabolism Disorders
Calcium Metabolism Disorders
0.220 GeneticVariation group BEFREE For example, the inactivation or mutation of the CaSR gene usually leads to one of several disorders of calcium metabolism. 25069966 2014
CUI: C0006705
Disease: Calcium Metabolism Disorders
Calcium Metabolism Disorders
0.220 Biomarker group MGD New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. 22527485 2012
CUI: C0006705
Disease: Calcium Metabolism Disorders
Calcium Metabolism Disorders
0.220 Biomarker group BEFREE Mutation screening of the CASR by DNA sequencing is commonly used in the diagnosis of disorders of calcium metabolism, such as familial hypocalciuric hypercalcaemia (FHH). 19912241 2010
CUI: C0006705
Disease: Calcium Metabolism Disorders
Calcium Metabolism Disorders
0.220 Biomarker group MGD A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 7493018 1995