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 GeneticVariation disease UNIPROT Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. 18075469 2007
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene. 17166756 2007
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 CausalMutation disease CLINVAR Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. 18075469 2007
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 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 Biomarker disease CTD_human 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 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 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 CLINVAR Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity. 15563885 2005
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease UNIPROT Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity. 15563885 2005
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease CLINVAR Genotyping the butyrylcholinesterase in patients with prolonged neuromuscular block after succinylcholine. 15731589 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 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 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 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 UNIPROT Naturally occurring mutation, Asp70his, in human butyrylcholinesterase. 11928765 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 Response to mivacurium in a patient compound heterozygous for a novel and a known silent mutation in the butyrylcholinesterase gene: genotyping by sequencing. 11575530 2001
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 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 CLINVAR Interaction between the peripheral site residues of human butyrylcholinesterase, D70 and Y332, in binding and hydrolysis of substrates. 10446378 1999
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		0.720 GeneticVariation disease UNIPROT 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 Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia. 9694584 1998