BCHE, butyrylcholinesterase, 590

N. diseases: 392; N. variants: 101
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: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 1 43 0.720 None 1.000 51 43 1957 2016
CUI: C1622434
Disease: Suxamethonium sensitivity
Suxamethonium sensitivity 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Pathologic Function 1 0.300 None 1.000 5 1997 2014
CUI: C1867468
Disease: Apnea, Postanesthetic
Apnea, Postanesthetic 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Pathologic Function 1 1 0.400 None 1.000 5 1 1997 2014
CUI: C0520758
Disease: Prolonged neuromuscular block
Prolonged neuromuscular block 		disease Disease or Syndrome 1 0.020 None 1.000 2 2001 2014
CUI: C0009176
Disease: Cocaine intoxication
Cocaine intoxication 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 1 1 0.010 None 1.000 1 1 1999 1999
CUI: C0020529
Disease: Hypersomnia with Periodic Respiration
Hypersomnia with Periodic Respiration 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2008 2008
CUI: C0240302
Disease: Masseter Muscle Spasm
Masseter Muscle Spasm 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.300 None 1.000 1 1980 1980
CUI: C0338495
Disease: Sleep Apnea, Mixed Central and Obstructive
Sleep Apnea, Mixed Central and Obstructive 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2008 2008
CUI: C0343495
Disease: Lockjaw
Lockjaw 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.300 None 1.000 1 1980 1980
CUI: C0473223
Disease: Aluminum intoxication
Aluminum intoxication 		disease Chemically-Induced Disorders Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0541957
Disease: Fasciculation, Skeletal Muscle
Fasciculation, Skeletal Muscle 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.300 None 1.000 1 1984 1984
CUI: C0751144
Disease: Fasciculation, Benign
Fasciculation, Benign 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 1984 1984
CUI: C1867469
Disease: Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C3889588
Disease: BCHE, FLUORIDE 2 PHENOTYPE
BCHE, FLUORIDE 2 PHENOTYPE 		phenotype Finding 1 1 0.100 None 0 1
CUI: C3889591
Disease: BCHE, J VARIANT PHENOTYPE
BCHE, J VARIANT PHENOTYPE 		phenotype Finding 1 1 0.100 None 0 1
CUI: C3889592
Disease: BCHE, H VARIANT PHENOTYPE
BCHE, H VARIANT PHENOTYPE 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0268379
Disease: Pseudocholinesterase deficiency
Pseudocholinesterase deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 2 0.310 None 1.000 6 1997 2018
CUI: C0079221
Disease: Determination of Death
Determination of Death 		phenotype Pathological Conditions, Signs and Symptoms Diagnostic Procedure 2 0.300 None 1.000 1 2008 2008
CUI: C0232066
Disease: Induced apnea
Induced apnea 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 1980 1980
CUI: C0270795
Disease: Monoparesis
Monoparesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 1 0.300 None 1.000 1 1990 1990
CUI: C0376297
Disease: Cardiac Death
Cardiac Death 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 2 0.300 None 1.000 1 2008 2008
CUI: C0920253
Disease: Emergence Delirium
Emergence Delirium 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2018 2018
CUI: C1968699
Disease: Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate
Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases; Stomatognathic Diseases Disease or Syndrome 2 1 0.300 None 1.000 1 2006 2006
CUI: C0043102
Disease: Weil Disease
Weil Disease 		disease Infections Disease or Syndrome 3 0.200 None 1.000 1 2012 2012
CUI: C0751410
Disease: Lower Extremity Paresis
Lower Extremity Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 3 0.300 None 1.000 1 1990 1990