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: C3875492
Disease: Hypocalciuric hypercalcemia
Hypocalciuric hypercalcemia
0.370 Biomarker disease BEFREE Glucocorticoid-responsive lymphocytic parathyroiditis and hypocalciuric hypercalcemia due to autoantibodies against the calcium-sensing receptor: a case report and literature review. 28515208 2017
CUI: C3875492
Disease: Hypocalciuric hypercalcemia
Hypocalciuric hypercalcemia
0.370 GeneticVariation disease BEFREE The presence of the CASR gene in the deleted interval predicted a diagnosis of hypocalciuric hypercalcemia, which was confirmed by the serum and urine chemistries. 24292865 2014
CUI: C3875492
Disease: Hypocalciuric hypercalcemia
Hypocalciuric hypercalcemia
0.370 GeneticVariation disease BEFREE Gene sequencing revealed a new mutation of the calcium-sensing receptor gene, causing severe neonatal hyperparathyroidism, a variant of hypocalciuric hypercalcemia. 17110864 2006
CUI: C3875492
Disease: Hypocalciuric hypercalcemia
Hypocalciuric hypercalcemia
0.370 GeneticVariation disease BEFREE Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. 15572418 2005
CUI: C3875492
Disease: Hypocalciuric hypercalcemia
Hypocalciuric hypercalcemia
0.370 GeneticVariation disease BEFREE The human CaSR gene is located on chromosome 3q21.1 and loss-of-function CaSR mutations have been reported in the hypercalcaemic disorders of familial benign (hypocalciuric) hypercalcaemia (FHH, FBH or FBHH) and neonatal severe primary hyperparathyroidism (NSHPT). 15200151 2004
CUI: C3875492
Disease: Hypocalciuric hypercalcemia
Hypocalciuric hypercalcemia
0.370 Biomarker disease BEFREE Molecular abnormalities of the calcium-sensing receptor are responsible for three clinical disorders, familial benign hypocalciuric hypercalcaemia, neonatal severe hyperparathyroidism and autosomal dominant hypocalcaemia with hypercalciuria. 12173690 2002
CUI: C3875492
Disease: Hypocalciuric hypercalcemia
Hypocalciuric hypercalcemia
0.370 Biomarker disease BEFREE The human CaSR gene is located on chromosome 3q13.3-q21, and loss of function CaSR mutations have been reported in the hypercalcaemic disorders of familial benign (hypocalciuric) hypercalcaemia (FBH or FHH) and neonatal severe primary hyperparathyroidism (NSHPT). 9920407 1998
CUI: C3875492
Disease: Hypocalciuric hypercalcemia
Hypocalciuric hypercalcemia
0.370 Biomarker disease GENOMICS_ENGLAND