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 Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. 18075469 2007
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		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
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		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
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 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 Biomarker disease CTD_human 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 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 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 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 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 CLINVAR Genotyping the butyrylcholinesterase in patients with prolonged neuromuscular block after succinylcholine. 15731589 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 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 Biomarker disease CTD_human Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446 2003
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 CausalMutation disease CLINVAR Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446 2003
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. 12881446 2003
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 CausalMutation disease CLINVAR Novel mutation and multiple mutations found in the human butyrylcholinesterase gene. 12417112 2002
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease UNIPROT Naturally occurring mutation, Asp70his, in human butyrylcholinesterase. 11928765 2002
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 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
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 CausalMutation disease CLINVAR Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure. 10404729 1999
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease CLINVAR Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure. 10404729 1999
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		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
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		0.720 GeneticVariation disease UNIPROT Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure. 10404729 1999
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		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