CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Disease: Hypoparathyroidism familial isolated ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.330 GeneticVariation disease BEFREE Familial isolated hypoparathyroidism (FIH) is a genetically heterogeneous disorder due to mutations of the calcium-sensing receptor (CASR), glial cells missing-2 (GCM2), guanine nucleotide binding protein α11 (GNA11), or parathyroid hormone (PTH) genes. 28938448 2017
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.330 Biomarker disease CTD_human Activating mutations in the calcium-sensing receptor (CaSR) gene are well-known causes of familial isolated hypoparathyroidism, also known as autosomal dominant hypocalcemia (ADH). 20119591 2010
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.330 GeneticVariation disease BEFREE Activating mutations in the calcium-sensing receptor (CaSR) gene are well-known causes of familial isolated hypoparathyroidism, also known as autosomal dominant hypocalcemia (ADH). 20119591 2010
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		0.330 Biomarker disease BEFREE Further studies are required to elucidate whether genes coding for other molecules, such as calcium-sensing receptor, are involved in FIH. 9152631 1997