DisGeNET - a database of gene-disease associations

BCHE, butyrylcholinesterase, 590

N. diseases: 392; N. variants: 101

Disease: Butyrylcholinesterase deficiency ×

Variant: rs3732880 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

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

25264279

2014

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

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:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

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:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

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

17700357

2007

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

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

16788378

2006

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

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

15781196

2005

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

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

15563885

2005

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

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

12881446

2003

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

Naturally occurring mutation, Asp70his, in human butyrylcholinesterase.

11928765

2002

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

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

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure.

10404729

1999

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia.

9694584

1998

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency.

9543549

1997

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.

9191541

1997

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells.

9388484

1997

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase.

9110359

1997

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

CLINVAR

Familial hypocholinesterasemia found in a family and a new confirmed mutation.

9058093

1997

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

CLINVAR

Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.

9191541

1997

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.

8554068

1996

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes.

7634491

1995

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

DNA mutations associated with the human butyrylcholinesterase J-variant.

1349196

1992

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

Structural basis of the butyrylcholinesterase H-variant segregating in two Danish families.

1306123

1992

dbSNP:

rs3732880

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

GeneticVariation

UNIPROT

Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase.

2915989

1989