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 SusceptibilityMutation disease CLINVAR
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 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 Biomarker disease CTD_human 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 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 UNIPROT Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivarcurium) in patients who have mutations in the BCHE gene. 25264279 2014
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 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 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 GeneticVariation disease CLINVAR A patient with prolonged paralysis. 22378569 2012
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease UNIPROT A variant serum cholinesterase and a confirmed point mutation at Gly-365 to Arg found in a patient with liver cirrhosis. 1611188 1992
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Activity and polymorphisms of butyrylcholinesterase in a Polish population. 27109752 2016
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR An Indian butyrylcholinesterase variant L307P is not structurally stable: a molecular dynamics simulation study. 23123771 2013
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine. 21637541 2011
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 Biomarker disease CTD_human Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446 2003
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 CausalMutation disease CLINVAR Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446 2003
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446 2003
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy. 21029050 2011
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 GeneticVariation disease CLINVAR Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene. 8554068 1996
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 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 UNIPROT Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase. 9110359 1997
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting. 21228368 2011