DisGeNET - a database of gene-disease associations

CHRNA4, cholinergic receptor nicotinic alpha 4 subunit, 1137

N. diseases: 248; N. variants: 20

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:

rs121909580

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C1838049
Disease:

Epilepsy, Nocturnal Frontal Lobe, Type 1

0.800

GeneticVariation

UNIPROT

A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.

14623738

2003

dbSNP:

rs121909580

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C1838049
Disease:

Epilepsy, Nocturnal Frontal Lobe, Type 1

0.800

GeneticVariation

UNIPROT

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.

10563623

1999

dbSNP:

rs121909580

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C1838049
Disease:

Epilepsy, Nocturnal Frontal Lobe, Type 1

0.800

GeneticVariation

UNIPROT

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.

7550350

1995

dbSNP:

rs121909580

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C1838049
Disease:

Epilepsy, Nocturnal Frontal Lobe, Type 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C3696898
Disease:

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

0.720

CausalMutation

CLINVAR

A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy.

22118295

2012

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C3696898
Disease:

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

0.720

GeneticVariation

BEFREE

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.

21753767

2011

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C3696898
Disease:

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

0.720

CausalMutation

CLINVAR

Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy.

19237585

2009

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C3696898
Disease:

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

0.720

CausalMutation

CLINVAR

This is the first report of an occurrence of c.851C>T transition in a white family with ADNFLE.

12887446

2003

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C3696898
Disease:

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

0.720

GeneticVariation

BEFREE

This is the first report of an occurrence of c.851C>T transition in a white family with ADNFLE.

12887446

2003

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C3696898
Disease:

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

0.720

CausalMutation

CLINVAR

A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

10939581

2000

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C3696898
Disease:

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

0.720

CausalMutation

CLINVAR

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.

10563623

1999

dbSNP:

rs6062901

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C0037369
Disease:

Smoking

0.700

GeneticVariation

GWASCAT

Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence.

28972577

2018

dbSNP:

rs2273500

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C0037369
Disease:

Smoking

0.700

GeneticVariation

GWASCAT

Importantly, rs2273500-C was associated with increased lung cancer risk (N=28 998, odds ratio=1.06 and 95% confidence interval=1.00-1.12), likely through its effect on smoking, as rs2273500-C was no longer associated with lung cancer after adjustment for smoking.

26440539

2015

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C0036572
Disease:

Seizures

0.700

CausalMutation

CLINVAR

Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.

22883468

2013

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C0036572
Disease:

Seizures

0.700

CausalMutation

CLINVAR

Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.

22036597

2012

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C0036572
Disease:

Seizures

0.700

CausalMutation

CLINVAR

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.

21753767

2011

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C0036572
Disease:

Seizures

0.700

CausalMutation

CLINVAR

Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype.

19020039

2008

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C0036572
Disease:

Seizures

0.700

CausalMutation

CLINVAR

A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.

14623738

2003

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C0036572
Disease:

Seizures

0.700

CausalMutation

CLINVAR

Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.

12887446

2003

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C0036572
Disease:

Seizures

0.700

CausalMutation

CLINVAR

Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.

11904236

2002

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C0036572
Disease:

Seizures

0.700

CausalMutation

CLINVAR

Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.

10643924

2000

dbSNP:

rs28931591

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C0036572
Disease:

Seizures

0.700

CausalMutation

CLINVAR

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.

10563623

1999

dbSNP:

rs121909580

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C1835905
Disease:

Epilepsy, Nocturnal Frontal Lobe, Type 4

0.700

CausalMutation

CLINVAR

dbSNP:

rs281865066

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C1835905
Disease:

Epilepsy, Nocturnal Frontal Lobe, Type 4

0.700

CausalMutation

CLINVAR

dbSNP:

rs281865067

Entrez Id:	1137
Gene Symbol:	CHRNA4

CHRNA4

CUI:	C1854335
Disease:

Epilepsy, Nocturnal Frontal Lobe, Type 3

GAGC

0.700

CausalMutation

CLINVAR