Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 Biomarker disease BEFREE Sensitivity of butyrylcholinesterase knockout mice to (--)-huperzine A and donepezil suggests humans with butyrylcholinesterase deficiency may not tolerate these Alzheimer's disease drugs and indicates butyrylcholinesterase function in neurotransmission. 17194517 2007
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 Biomarker disease BEFREE The butyrylcholinesterase knockout mouse as a model for human butyrylcholinesterase deficiency. 18056867 2008
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 CausalMutation disease CLINVAR Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan. 9191541 1997
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Familial hypocholinesterasemia found in a family and a new confirmed mutation. 9058093 1997
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		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
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 SusceptibilityMutation disease CLINVAR
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 CausalMutation disease CLINVAR Novel mutation and multiple mutations found in the human butyrylcholinesterase gene. 12417112 2002
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		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
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		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
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting. 21228368 2011
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 CausalMutation disease CLINVAR Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure. 10404729 1999
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 CausalMutation disease CLINVAR A method for the detection of atypical forms of human serum cholinesterase; determination of dibucaine numbers. 13437188 1957
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		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
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan. 9191541 1997
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample. 15781196 2005
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 CausalMutation disease CLINVAR Mutations of human butyrylcholinesterase gene in a family with hypocholinesterasemia. 8680411 1995
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study. 12724618 2003
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences. 20879632 2010
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR 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
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity. 15563885 2005
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 CausalMutation disease CLINVAR Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses. 25448037 2015
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 CausalMutation disease CLINVAR Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase. 9110359 1997
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Phenotypic and molecular biological analysis of human butyrylcholinesterase variants. 2253336 1990
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Role of aspartate 70 and tryptophan 82 in binding of succinyldithiocholine to human butyrylcholinesterase. 9047329 1997
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase. 2915989 1989