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:

rs137852707

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852708

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.800

GeneticVariation

UNIPROT

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

9794716

1998

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:

rs137852708

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.800

GeneticVariation

UNIPROT

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

8601645

1996

dbSNP:

rs137852708

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.800

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:

rs137852708

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.800

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:

rs137852708

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.800

GeneticVariation

UNIPROT

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

7550319

1995

dbSNP:

rs137852708

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852705

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.710

GeneticVariation

UNIPROT

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

8601645

1996

dbSNP:

rs137852705

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.710

GeneticVariation

BEFREE

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

18398334

2008

dbSNP:

rs137852705

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.710

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:

rs137852705

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.710

GeneticVariation

UNIPROT

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

9794716

1998

dbSNP:

rs137852705

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.710

GeneticVariation

UNIPROT

8524790

1995

dbSNP:

rs137852705

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.710

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:

rs137852705

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.710

GeneticVariation

UNIPROT

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

7550319

1995

dbSNP:

rs137852704

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.700

CausalMutation

CLINVAR

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

27900368

2016

dbSNP:

rs149868979

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0221043
Disease:

Liddle Syndrome

0.010

GeneticVariation

BEFREE

The R563Q mutation of β-ENaC is associated with hypertension within affected kindreds, but does not usually cause the full Liddle's syndrome phenotype.

21107496

2011

dbSNP:

rs137852704

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0220983
Disease:

Metabolic alkalosis

0.700

CausalMutation

CLINVAR

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

27900368

2016

dbSNP:

rs137852704

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0033805
Disease:

Pseudohypoaldosteronism

0.700

CausalMutation

CLINVAR

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

27900368

2016

dbSNP:

rs1182475940

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C1449843
Disease:

Pseudohypoaldosteronism, Type I, Autosomal Recessive

0.700

GeneticVariation

CLINVAR

dbSNP:

rs137852706

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C1449843
Disease:

Pseudohypoaldosteronism, Type I, Autosomal Recessive

0.700

GeneticVariation

UNIPROT

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.

8589714

1996

dbSNP:

rs1799979

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0745130
Disease:

Resistant hypertensive disorder

0.010

GeneticVariation

BEFREE

There is preliminary evidence that amiloride is effective as monotherapy in hypertensive individuals with the Thr594Met polymorphism and in patients with resistant hypertension, who have evidence of increased amiloride-sensitive sodium channel activity.

15174897

2004

dbSNP:

rs239345

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0858598
Disease:

Taste salty

0.010

GeneticVariation

BEFREE

The TAS1R2-rs35874116 was not significantly associated with sweet, whereas the SCNN1B-rs239345 was associated (<i>p</i> = 0.040) with salty taste.

30340375

2018