DisGeNET - a database of gene-disease associations

SCNN1B, sodium channel epithelial 1 subunit beta, 6338

N. diseases: 86; N. variants: 21

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:

rs387906402

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.820

GeneticVariation

BEFREE

Finally, the Liddle syndrome was diagnosed because of the DNA sequencing found that the proband's mother and himself had mutations P616L (c.1847 C>T) in the SCNN1B gene.

28236585

2017

dbSNP:

rs387906402

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.820

GeneticVariation

BEFREE

Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit.

18398334

2008

dbSNP:

rs387906402

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.820

GeneticVariation

UNIPROT

Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.

15483078

2005

dbSNP:

rs387906402

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.820

GeneticVariation

UNIPROT

Genetic analysis of the epithelial sodium channel in Liddle's syndrome.

9794716

1998

dbSNP:

rs387906402

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.820

GeneticVariation

UNIPROT

A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.

9626162

1998

dbSNP:

rs387906402

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.820

GeneticVariation

UNIPROT

Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.

8601645

1996

dbSNP:

rs387906402

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.820

GeneticVariation

UNIPROT

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.

7550319

1995

dbSNP:

rs387906402

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.820

GeneticVariation

UNIPROT

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.

8524790

1995

dbSNP:

rs387906402

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.820

CausalMutation

CLINVAR

dbSNP:

rs387906402

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.820

CausalMutation

CLINVAR

dbSNP:

rs137852709

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

19017867

2009

dbSNP:

rs137852710

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

19017867

2009

dbSNP:

rs137852711

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

19017867

2009

dbSNP:

rs137852712

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

19017867

2009

dbSNP:

rs35731153

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

19017867

2009

dbSNP:

rs137852709

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Could a defective epithelial sodium channel lead to bronchiectasis.

18507830

2008

dbSNP:

rs137852710

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Could a defective epithelial sodium channel lead to bronchiectasis.

18507830

2008

dbSNP:

rs137852711

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Could a defective epithelial sodium channel lead to bronchiectasis.

18507830

2008

dbSNP:

rs137852712

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Could a defective epithelial sodium channel lead to bronchiectasis.

18507830

2008

dbSNP:

rs35731153

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Could a defective epithelial sodium channel lead to bronchiectasis.

18507830

2008

dbSNP:

rs137852707

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.800

GeneticVariation

UNIPROT

Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.

15483078

2005

dbSNP:

rs137852708

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.800

GeneticVariation

UNIPROT

Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.

15483078

2005

dbSNP:

rs137852709

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

16207733

2005

dbSNP:

rs137852710

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

16207733

2005

dbSNP:

rs137852711

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C2749757
Disease:

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1

0.800

GeneticVariation

UNIPROT

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

16207733

2005