×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase.
17700357
2007
×
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
Biomarker
disease
CTD_human
Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase.
9110359
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
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
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
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
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.
8554068
1996
×
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
GeneticVariation
disease
UNIPROT
Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes.
7634491
1995
×
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
UNIPROT
Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency.
9543549
1997
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India.
16788378
2006
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
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
×
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
UNIPROT
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
GeneticVariation
disease
UNIPROT
Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.
12881446
2003
×
Entrez Id:
590
Gene Symbol:
BCHE
BCHE
0.720
GeneticVariation
disease
UNIPROT
Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample.
15781196
2005