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: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 CausalMutation disease CLINVAR A method for the detection of atypical forms of human serum cholinesterase; determination of dibucaine numbers. 13437188 1957
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR A method for the detection of atypical forms of human serum cholinesterase; determination of dibucaine numbers. 13437188 1957
CUI: C0003578
Disease: Apnea
Apnea 		0.400 Therapeutic phenotype CTD_human Qualitative defects of pseudocholinesterase activity. 4959505 1967
CUI: C0003578
Disease: Apnea
Apnea 		0.400 Biomarker phenotype CTD_human Qualitative defects of pseudocholinesterase activity. 4959505 1967
CUI: C0003578
Disease: Apnea
Apnea 		0.400 Biomarker phenotype CTD_human Prolonged postoperative apnea with pseudocholinesterase deficiency. 6039104 1967
CUI: C0003578
Disease: Apnea
Apnea 		0.400 Therapeutic phenotype CTD_human Prolonged postoperative apnea with pseudocholinesterase deficiency. 6039104 1967
CUI: C0032787
Disease: Postoperative Complications
Postoperative Complications 		0.300 Biomarker group CTD_human Prolonged postoperative apnea with pseudocholinesterase deficiency. 6039104 1967
CUI: C0003578
Disease: Apnea
Apnea 		0.400 Therapeutic phenotype CTD_human An additional pseudocholinesterase phenotype occurring in suxamethonium apnoea. 5667302 1968
CUI: C0003578
Disease: Apnea
Apnea 		0.400 Biomarker phenotype CTD_human An additional pseudocholinesterase phenotype occurring in suxamethonium apnoea. 5667302 1968
CUI: C0003578
Disease: Apnea
Apnea 		0.400 Biomarker phenotype CTD_human A further factor contributing to inherited suxamethonium sensitivity. 5365519 1969
CUI: C0003578
Disease: Apnea
Apnea 		0.400 Therapeutic phenotype CTD_human A further factor contributing to inherited suxamethonium sensitivity. 5365519 1969