CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Source: ALL
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.
Hypocalciuric hypercalcemia, familial, type 1
disease Nutritional and Metabolic Diseases Disease or Syndrome 46 58 1.000 None 0.993 145 44 1976 2020
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
disease Disease or Syndrome 5 22 0.920 strong 1.000 27 22 1994 2019
HYPERPARATHYROIDISM, NEONATAL SEVERE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 14 14 0.800 strong 0.962 52 14 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 35 0.700 None 0.989 88 34 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 29 9 0.700 None 1.000 51 5 1995 2019
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism
disease Endocrine System Diseases Disease or Syndrome 111 14 0.700 None 0.966 29 6 1996 2019
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.500 None 0.955 67 6 1976 2020
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.500 None 1.000 24 4 1994 2019
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
disease Endocrine System Diseases Disease or Syndrome 92 15 0.500 None 0.917 24 3 1995 2019
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME
disease Disease or Syndrome 5 0.500 None 1.000 4 1999 2012
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
disease Digestive System Diseases Disease or Syndrome 502 80 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 12 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
Familial Isolated Hyperparathyroidism
disease Endocrine System Diseases Disease or Syndrome 10 4 0.350 strong 1.000 6 2004 2019
Hypoparathyroidism familial isolated
disease Endocrine System Diseases Disease or Syndrome 8 8 0.330 None 0.667 3 1997 2017
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria
phenotype Pathological Conditions, Signs and Symptoms Finding 60 5 0.310 None 1.000 2 2007 2011
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy
disease Nervous System Diseases Disease or Syndrome 94 24 0.310 None 1.000 1 2008 2008
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8
disease Finding 1 3 0.300 None 1.000 1 3 2008 2008
CUI: C0026141
Disease: Milk-Alkali Syndrome
Milk-Alkali Syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 1997 1997
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
disease Digestive System Diseases Disease or Syndrome 158 108 0.300 None 1.000 1 2015 2015
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome
disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.240 None 1.000 5 2011 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.230 None 1.000 4 2 2007 2019
CUI: C0006705
Disease: Calcium Metabolism Disorders
Calcium Metabolism Disorders
group Nutritional and Metabolic Diseases Disease or Syndrome 5 1 0.220 None 1.000 4 1995 2014
Hypocalciuric Hypercalcemia, Acquired
disease Nutritional and Metabolic Diseases Disease or Syndrome 13 0.210 None 1.000 3 1995 2019