CASR, calcium sensing receptor, 846

N. diseases: 432; N. variants: 44
Source: BEFREE ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		disease Nutritional and Metabolic Diseases Disease or Syndrome 46 22 1.000 None 0.993 103 8 1976 2020
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		disease Disease or Syndrome 1 0.920 strong 1.000 2 1994 2019
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 13 7 0.800 strong 0.962 46 7 1995 2020
CUI: C1809471
Disease: Familial benign hypercalcemia
Familial benign hypercalcemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 24 3 0.700 None 0.989 66 2 1991 2018
CUI: C4048195
Disease: Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 27 8 0.700 None 1.000 50 4 1995 2019
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 101 13 0.700 None 0.966 21 6 1996 2019
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 121 5 0.500 None 0.955 49 4 1976 2020
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 58 10 0.500 None 0.917 23 2 1995 2019
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 50 10 0.500 None 1.000 21 4 1994 2019
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 359 66 0.460 None 0.667 6 4 1996 2014
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
Idiopathic Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 12 5 0.400 None 1.000 11 2000 2017
CUI: C3875492
Disease: Hypocalciuric hypercalcemia
Hypocalciuric hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 0.370 strong 1.000 7 1998 2017
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 10 4 0.350 strong 1.000 5 2004 2019
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		disease Endocrine System Diseases Disease or Syndrome 8 0.330 None 0.667 3 1997 2017
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease Nervous System Diseases Disease or Syndrome 91 20 0.310 None 1.000 1 2008 2008
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1998 271 0.240 None 1.000 4 2011 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1582 547 0.230 None 1.000 2 2 2007 2019
CUI: C0006705
Disease: Calcium Metabolism Disorders
Calcium Metabolism Disorders 		group Nutritional and Metabolic Diseases Disease or Syndrome 4 0.220 None 1.000 2 1995 2014
CUI: C1840348
Disease: Hypocalciuric Hypercalcemia, Acquired
Hypocalciuric Hypercalcemia, Acquired 		disease Nutritional and Metabolic Diseases Disease or Syndrome 13 0.210 None 1.000 1 1995 2019
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies 		disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 193 1 0.210 None 1.000 1 2012 2018
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		disease Endocrine System Diseases Disease or Syndrome 113 33 0.200 None 0.941 34 5 2001 2019
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 184 68 0.200 None 0.952 21 7 2000 2019
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 175 68 0.200 None 0.952 21 7 2000 2019
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 125 8 0.200 None 0.750 12 1995 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2650 714 0.200 None 1.000 11 1 1996 2019