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 GeneticVariation disease UNIPROT Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase. 17700357 2007
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 CausalMutation disease CLINVAR Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan. 9191541 1997
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 Biomarker disease CTD_human Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase. 9110359 1997
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR Familial hypocholinesterasemia found in a family and a new confirmed mutation. 9058093 1997
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family. 16434405 2006
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 SusceptibilityMutation disease CLINVAR
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 CausalMutation disease CLINVAR Novel mutation and multiple mutations found in the human butyrylcholinesterase gene. 12417112 2002
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR Gene analysis of genomic DNA from stored serum by polymerase chain reaction: identification of three missense mutations in patients with cholinesterasemia and ABO genotyping. 11163024 2001
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease UNIPROT Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene. 25054547 2014
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GermlineCausalMutation disease ORPHANET Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses. 25448037 2015
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease UNIPROT Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene. 8554068 1996
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 CausalMutation disease CLINVAR Rapid and accurate detection of atypical and Kalow variants in the butyrylcholinesterase gene using denaturing high performance liquid chromatography. 18165570 2008
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting. 21228368 2011
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 CausalMutation disease CLINVAR Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure. 10404729 1999
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease UNIPROT Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes. 7634491 1995
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 UNIPROT Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency. 9543549 1997
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease UNIPROT Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India. 16788378 2006
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease UNIPROT Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population. 18300943 2008
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors. 27551784 2016
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan. 9191541 1997
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease UNIPROT Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan. 9191541 1997
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample. 15781196 2005
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease UNIPROT Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446 2003
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease UNIPROT Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample. 15781196 2005