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 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 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 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 GeneticVariation disease CLINVAR Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting. 21228368 2011
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 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
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study. 12724618 2003
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease UNIPROT Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase. 2915989 1989
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences. 20879632 2010
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		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
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity. 15563885 2005
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease UNIPROT Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase. 1415224 1992
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		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
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR Phenotypic and molecular biological analysis of human butyrylcholinesterase variants. 2253336 1990