|| common in clinvar
|?|| (C;C) (C;G) (G;G) ||28|
| Disease Association
|| Defects in CASR are the cause of autosomal dominant hypoparathyroidism (FIH) (MIM:146200). FIH is characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Symptoms are seizures, tetany and cramps.
] Genetic variation in the retinoid X receptor and calcium-sensing receptor, and risk of colorectal cancer in the Colon Cancer Family Registry
[PMID 18787887] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.
[PMID 18843020] Genetic variation in calcium-sensing receptor and risk for colon cancer.
|| not reviewed
|| Insufficiently evaluated not reviewed
[PMID 23533647] Polymorphisms in the calcium-sensing receptor gene are associated with clinical outcome of neuroblastoma
[PMID 23125333] Common genetic variation of the calcium-sensing receptor and lethal prostate cancer risk.