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: 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: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
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: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		phenotype Finding 75 8 0.100 None 0
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		phenotype Finding 13 0.100 None 0
CUI: C4025279
Disease: Respiratory failure requiring assisted ventilation
Respiratory failure requiring assisted ventilation 		phenotype Respiratory Tract Diseases Finding 9 1 0.100 None 0
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: C0003578
Disease: Apnea
Apnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.400 None 1.000 42 1 1967 2018
CUI: C0032787
Disease: Postoperative Complications
Postoperative Complications 		group Pathological Conditions, Signs and Symptoms Pathologic Function 5 0.300 None 1.000 1 1967 1967
CUI: C0234544
Disease: Todd Paralysis
Todd Paralysis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 10 0.300 None 1.000 10 1970 2011
CUI: C0522224
Disease: Paralysed
Paralysed 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 68 0.400 None 1.000 10 1970 2011
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.030 None 1.000 3 1977 2018
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.030 None 1.000 3 1977 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 1977 1977
CUI: C0004936
Disease: Mental disorders
Mental disorders 		group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.010 None 1.000 1 1977 1977
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.050 None 1.000 5 1978 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 1979 1979
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 1979 1979
CUI: C0023343
Disease: Leprosy
Leprosy 		disease Infections Disease or Syndrome 190 120 0.010 None 1.000 1 1979 1979
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: C0041105
Disease: Trismus
Trismus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 2 0.300 None 1.000 1 1980 1980
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: C0343495
Disease: Lockjaw
Lockjaw 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.300 None 1.000 1 1980 1980