DisGeNET - a database of gene-disease associations

Butyrylcholinesterase deficiency, C1283400

Variant: rs1799807 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors.

27551784

2016

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses.

25448037

2015

dbSNP:

rs1799807

BCHE

0.800

CausalMutation

CLINVAR

Review of human butyrylcholinesterase structure, function, genetic variants, history of use in the clinic, and potential therapeutic uses.

25448037

2015

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

UNIPROT

"Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), ""silent"" with mivacurium."

25264279

2014

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

UNIPROT

"Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium."

25054547

2014

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

"Characterization of a novel BCHE ""silent"" allele: point mutation (p.Val204Asp) causes loss of activity and prolonged apnea with suxamethonium."

25054547

2014

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

An Indian butyrylcholinesterase variant L307P is not structurally stable: a molecular dynamics simulation study.

23123771

2013

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

Butyrylcholinesterase gene mutations in patients with prolonged apnea after succinylcholine for electroconvulsive therapy.

21029050

2011

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

Concordance of butyrylcholinesterase phenotype with genotype: implications for biochemical reporting.

21228368

2011

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

Prolonged apnea during electroconvulsive therapy in monozygotic twins: case reports.

22053728

2011

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine.

21637541

2011

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences.

20879632

2010

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

UNIPROT

Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia.

18075469

2007

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

UNIPROT

Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase.

17700357

2007

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene.

17166756

2007

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

UNIPROT

Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India.

16788378

2006

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

UNIPROT

Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity.

15563885

2005

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

UNIPROT

Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample.

15781196

2005

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

Genotyping the butyrylcholinesterase in patients with prolonged neuromuscular block after succinylcholine.

15731589

2005

dbSNP:

rs1799807

BCHE

0.800

CausalMutation

CLINVAR

Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.

12881446

2003

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.

12881446

2003

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study.

12724618

2003

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

UNIPROT

Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.

12881446

2003

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

UNIPROT

Naturally occurring mutation, Asp70his, in human butyrylcholinesterase.

11928765

2002

dbSNP:

rs1799807

BCHE

0.800

GeneticVariation

CLINVAR

Interaction between the peripheral site residues of human butyrylcholinesterase, D70 and Y332, in binding and hydrolysis of substrates.

10446378

1999