DisGeNET - a database of gene-disease associations

SCNN1B, sodium channel epithelial 1 subunit beta, 6338

N. diseases: 86; N. variants: 21

Disease: Bronchiectasis ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0006267
Disease:	Bronchiectasis

Bronchiectasis

0.410

Biomarker

disease

GENOMICS_ENGLAND

Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.

23837941

2014

CUI:	C0006267
Disease:	Bronchiectasis

Bronchiectasis

0.410

GeneticVariation

disease

LHGDN

Could a defective epithelial sodium channel lead to bronchiectasis.

18507830

2008

CUI:	C0006267
Disease:	Bronchiectasis

Bronchiectasis

0.410

Biomarker

disease

HPO