BCHE, butyrylcholinesterase, 590

N. diseases: 392; N. variants: 101
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 SusceptibilityMutation disease CLINVAR
CUI: C0522224
Disease: Paralysed
Paralysed 		0.400 Biomarker phenotype HPO
CUI: C1867468
Disease: Apnea, Postanesthetic
Apnea, Postanesthetic 		0.400 CausalMutation phenotype CLINVAR
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.200 Biomarker group HPO
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.110 Biomarker disease HPO
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.110 Biomarker disease HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.100 Biomarker disease HPO
CUI: C1867469
Disease: Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 		0.100 CausalMutation disease CLINVAR
CUI: C3889588
Disease: BCHE, FLUORIDE 2 PHENOTYPE
BCHE, FLUORIDE 2 PHENOTYPE 		0.100 CausalMutation phenotype CLINVAR
CUI: C3889591
Disease: BCHE, J VARIANT PHENOTYPE
BCHE, J VARIANT PHENOTYPE 		0.100 CausalMutation phenotype CLINVAR
CUI: C3889592
Disease: BCHE, H VARIANT PHENOTYPE
BCHE, H VARIANT PHENOTYPE 		0.100 CausalMutation phenotype CLINVAR
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.100 Biomarker phenotype HPO
CUI: C4022922
Disease: Abnormal enzyme/coenzyme activity
Abnormal enzyme/coenzyme activity 		0.100 Biomarker phenotype HPO
CUI: C4025279
Disease: Respiratory failure requiring assisted ventilation
Respiratory failure requiring assisted ventilation 		0.100 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.400 Therapeutic phenotype CTD_human "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
CUI: C0003578
Disease: Apnea
Apnea 		0.400 Biomarker phenotype CTD_human "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
CUI: C1867468
Disease: Apnea, Postanesthetic
Apnea, Postanesthetic 		0.400 Biomarker phenotype CTD_human "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
CUI: C0268379
Disease: Pseudocholinesterase deficiency
Pseudocholinesterase deficiency 		0.310 Biomarker disease CTD_human "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
CUI: C1622434
Disease: Suxamethonium sensitivity
Suxamethonium sensitivity 		0.300 Biomarker phenotype CTD_human "Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium." 25054547 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.400 Biomarker disease BEFREE & Heldr., were screened against acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) associated with Alzheimer's disease as well as tyrosinase (TYR) linked to Parkinson's disease using ELISA microplate assay at 200 μg/mL. 31365785 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE & Heldr., were screened against acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) associated with Alzheimer's disease as well as tyrosinase (TYR) linked to Parkinson's disease using ELISA microplate assay at 200 μg/mL. 31365785 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.400 Biomarker disease BEFREE <b>Abbreviations:</b> ABTS: 2,2'-azino-bis(3-ethylbenzothiazoline)-6-sulfonic acid; ACAE: acarbose equivalent; AChE: acetylcholinesterase; AD: Alzheimer's disease; BChE: butyrylcholinesterase; CUPRAC: cupric reducing antioxidant capacity; DPPH: 1,1-diphenyl-2-picrylhydrazyl; EDTAE: EDTA equivalent; FRAP: ferric reducing antioxidant power; GAE: gallic acid equivalent; GALAE: galatamine equivalent; HPLC: high performance liquid chromatography; KAE: kojic acid equivalent; RE: rutin equivalents; TE: trolox equivalent; TPC: total phenolic content; TFC: total flavonoid content. 30569760 2019
CUI: C4285807
Disease: Behavioral and psychological symptoms of dementia
Behavioral and psychological symptoms of dementia 		0.070 Biomarker phenotype BEFREE <b>Expert opinion</b>: The cholinesterase inhibitors rivastigmine, donepezil, and galantamine are currently the primary pharmacological treatments available to improve cognition and associated neuropsychiatric symptoms in Lewy body diseases. 31577469 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.400 Biomarker disease BEFREE 3-(4-{[Benzyl(ethyl)amino]methyl}phenyl)-6-({5-[(7-methoxy-6H-indeno[2,1-b]quinolin-11-yl)amino]pentyl}oxy)-2H-chromen-2-one, bearing the bulkiest amine, emerged as a non-neurotoxic dual acetylcholinesterase (AChE)/butyrylcholinesterase (BuChE) inhibitor, potentially suitable for the treatment of the middle stage of AD. 26507467 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.400 AlteredExpression disease BEFREE 9-Substituted acridine derivatives as acetylcholinesterase and butyrylcholinesterase inhibitors possessing antioxidant activity for Alzheimer's disease treatment. 28986116 2017