DisGeNET - a database of gene-disease associations

SCNN1G, sodium channel epithelial 1 subunit gamma, 6340

N. diseases: 76; N. variants: 6

Disease: Idiopathic 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:	C0339985
Disease:	Idiopathic bronchiectasis

Idiopathic bronchiectasis

0.300

GermlineCausalMutation

disease

ORPHANET

Recommendations for the classification of diseases as CFTR-related disorders.

21658649

2011

CUI:	C0339985
Disease:	Idiopathic bronchiectasis

Idiopathic bronchiectasis

0.300

GermlineCausalMutation

disease

ORPHANET

Could a defective epithelial sodium channel lead to bronchiectasis.

18507830

2008