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: C0039621
Disease: Tetany
Tetany 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Finding 24 1 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.100 None 0
CUI: C0032617
Disease: Polyuria
Polyuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 73 3 0.100 None 0
CUI: C0151714
Disease: Hypermagnesemia
Hypermagnesemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 10 0.100 None 0
CUI: C3698239
Disease: Cerebral cortex myoclonus
Cerebral cortex myoclonus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 14 1 0.100 None 0
CUI: C0030554
Disease: Paresthesia
Paresthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 121 8 0.100 None 0
CUI: C0151740
Disease: Intracranial Hypertension
Intracranial Hypertension 		disease Nervous System Diseases Finding 72 1 0.100 None 0
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 12 6 0.100 None 0
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C0947912
Disease: Myasthenias
Myasthenias 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 41 3 0.100 None 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.100 None 0 1
CUI: C1522135
Disease: Hypermagnesemia result
Hypermagnesemia result 		phenotype Finding 7 1 0.100 None 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Finding 55 2 0.100 None 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C0020649
Disease: Hypotension
Hypotension 		phenotype Cardiovascular Diseases Finding 125 2 0.100 None 0
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.100 None 0
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 65 1 0.100 None 0
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		phenotype Finding 13 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C4022560
Disease: Splanchnic vein thrombosis
Splanchnic vein thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 15 2 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0013595
Disease: Eczema
Eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.100 None 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0