DisGeNET - a database of gene-disease associations

BCHE, butyrylcholinesterase, 590

N. diseases: 392; N. variants: 101

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:

rs104893684

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

dbSNP:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C1283400
Disease:

Butyrylcholinesterase deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs104893684

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:

rs1126680

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C0028754
Disease:

Obesity

0.020

GeneticVariation

BEFREE

This study investigated the association of three single nucleotide polymorphisms (SNPs) in the BCHE gene: -116G > A (rs1126680), 1615GA (rs1803274), 1914A < G (rs3495), with obesity and lipid metabolism markers, body mass index (BMI), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), triglyceride (TG) levels, and BChE enzymatic activity in obese (BMI≥30/n = 226) and non-obese women (BMI < 25/n = 81).

28497838

2019

dbSNP:

rs1126680

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C0028754
Disease:

Obesity

0.020

GeneticVariation

BEFREE

The aim of the present study was to investigate the association of -116A (SNP: G/A; rs1126680) and 1914G (SNP: A/G; rs3495) variants of BCHE gene with anthropometric and biochemical variables associated with obesity in population sample of 115 individuals, from Southern Brazil.

24001779

2013

dbSNP:

rs1126680

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C0002395
Disease:

Alzheimer's Disease

0.010

GeneticVariation

BEFREE

We found synergy between APOE-ε4 and SNPs localized in 5'UTR (rs1126680) and in intron 2 (rs55781031) of the BCHE-K allele (rs1803274) in 18% of patients with late-onset AD (n = 55).

30914707

2019

dbSNP:

rs1126680

Entrez Id:	590
Gene Symbol:	BCHE

BCHE

CUI:	C0030567
Disease:

Parkinson Disease

0.010

GeneticVariation

BEFREE

The SNP rs1126680 in the butyrylcholinesterase gene BCHE reduced the risk of PD irrespective of pesticide exposure [OR = 0.38, 95% CI: 0.20-0.70, P = 0.002].

30410011

2018