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.
CUI: C1820738
Disease: Feeding intolerance
Feeding intolerance 		phenotype Pathological Conditions, Signs and Symptoms Finding 1 1 0.100 None 1.000 4 1 1976 2004
CUI: C0595928
Disease: Serum calcium increased
Serum calcium increased 		phenotype Nutritional and Metabolic Diseases Finding 1 1 0.100 None 1.000 1 1 1995 1995
CUI: C2752062
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 		disease Finding 1 3 0.300 None 1.000 1 3 2008 2008
CUI: C1832612
Disease: Hypocalcemia, Autosomal Dominant, with Bartter Syndrome
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: C0345406
Disease: Neonatal hyperparathyroidism
Neonatal hyperparathyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 2 3 0.050 None 1.000 5 3 1995 2016
CUI: C0342639
Disease: Familial idiopathic hypercalciuria
Familial idiopathic hypercalciuria 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 2 0.010 None 1.000 1 2001 2001
CUI: C0853277
Disease: Pseudo-Bartter syndrome
Pseudo-Bartter syndrome 		disease Disease or Syndrome 2 2 0.010 None 1.000 1 2017 2017
CUI: C0865171
Disease: parathyroiditis
parathyroiditis 		disease Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0271865
Disease: Autoimmune hypoparathyroidism
Autoimmune hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0342634
Disease: Neonatal hypocalcemia
Neonatal hypocalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
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
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: 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
CUI: C4552089
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME 		disease Disease or Syndrome 5 0.500 None 1.000 4 1999 2012
CUI: C1833372
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 1999 1999
CUI: C1135361
Disease: Persistent pulmonary hypertension
Persistent pulmonary hypertension 		disease Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C2673443
Disease: Hypermagnesiuria
Hypermagnesiuria 		phenotype Finding 6 1 0.100 None 0
CUI: C0271846
Disease: Familial hyperparathyroidism
Familial hyperparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 7 1 0.030 None 1.000 3 2000 2012
CUI: C0220989
Disease: Acquired partial lipodystrophy
Acquired partial lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2000 2000
CUI: C1522135
Disease: Hypermagnesemia result
Hypermagnesemia result 		phenotype Finding 7 1 0.100 None 0
CUI: C1842406
Disease: Pancreatic calcification
Pancreatic calcification 		phenotype Finding 7 0.100 None 0
CUI: C4554647
Disease: Hypermagnesemia, CTCAE
Hypermagnesemia, CTCAE 		phenotype Finding 7 0.100 None 0
CUI: C1832648
Disease: Hypoparathyroidism familial isolated
Hypoparathyroidism familial isolated 		disease Endocrine System Diseases Disease or Syndrome 8 8 0.330 None 0.667 3 1997 2017
CUI: C1504525
Disease: Acute lymphoblastic leukemia recurrent
Acute lymphoblastic leukemia recurrent 		disease Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 8 0.010 None 1.000 1 1999 1999