DisGeNET - a database of gene-disease associations

CHAT, choline O-acetyltransferase, 1103

N. diseases: 230; N. variants: 39

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:

rs75466054

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.810

GeneticVariation

BEFREE

Here, using next generation sequencing, we identified compound heterozygous mutations, namely a large maternally inherited deletion, including exons 4, 5, and 6, and a paternally inherited missense variant (c.914T>C [p.Ile305Thr]) in <i>CHAT</i> in a Chinese patient with a severe phenotype of CMS-EA.

30914958

2019

dbSNP:

rs75466054

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.810

GeneticVariation

UNIPROT

Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

12756141

2003

dbSNP:

rs75466054

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.810

GeneticVariation

UNIPROT

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

11172068

2001

dbSNP:

rs75466054

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.810

CausalMutation

CLINVAR

dbSNP:

rs121912815

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

12756141

2003

dbSNP:

rs121912816

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

12756141

2003

dbSNP:

rs121912817

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

12756141

2003

dbSNP:

rs121912819

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

12756141

2003

dbSNP:

rs121912820

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

12756141

2003

dbSNP:

rs121912821

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

12756141

2003

dbSNP:

rs121912822

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

12756141

2003

dbSNP:

rs121912823

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

12756141

2003

dbSNP:

rs121912815

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

11172068

2001

dbSNP:

rs121912816

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

11172068

2001

dbSNP:

rs121912817

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

11172068

2001

dbSNP:

rs121912819

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

11172068

2001

dbSNP:

rs121912820

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

11172068

2001

dbSNP:

rs121912821

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

11172068

2001

dbSNP:

rs121912822

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

11172068

2001

dbSNP:

rs121912823

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

GeneticVariation

UNIPROT

Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

11172068

2001

dbSNP:

rs1057517665

Entrez Id:	1103;6572
Gene Symbol:	CHAT;SLC18A3

CHAT;SLC18A3

CUI:	C4310654
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1057517665

Entrez Id:	1103;6572
Gene Symbol:	CHAT;SLC18A3

CHAT;SLC18A3

CUI:	C4310654
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC

0.800

CausalMutation

CLINVAR

dbSNP:

rs1057517666

Entrez Id:	1103;6572
Gene Symbol:	CHAT;SLC18A3

CHAT;SLC18A3

CUI:	C4310654
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1057517666

Entrez Id:	1103;6572
Gene Symbol:	CHAT;SLC18A3

CHAT;SLC18A3

CUI:	C4310654
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC

0.800

CausalMutation

CLINVAR

dbSNP:

rs121912815

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0393929
Disease:

Familial infantile myasthenia

0.800

CausalMutation

CLINVAR