MCID: BRN075
MIFTS: 12

Bronchiectasis with or Without Elevated Sweat Chloride 2 malady

Genetic diseases (common) category
Download this MalaCard

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Bronchiectasis with or Without Elevated Sweat Chloride 2 An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 2 is SCNN1A (sodium channel, non-voltage-gated 1 alpha subunit).

Description from OMIM:47 613021

Aliases & Classifications for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section
Sources:
20GeneTests, 22GTR, 47OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

bronchiectasis with or without elevated sweat chloride 2 20 22 47


Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section

Symptoms for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

613021

Clinical features from OMIM:

613021

Drugs & Therapeutics for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Bronchiectasis with or Without Elevated Sweat Chloride 2

Search NIH Clinical Center for Bronchiectasis with or Without Elevated Sweat Chloride 2

Genetic Tests for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

id Genetic test Affiliating Genes
1 Bronchiectasis with or Without Elevated Sweat Chloride 220 22 SCNN1A

Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section

Animal Models for Bronchiectasis with or Without Elevated Sweat Chloride 2 or affiliated genes

About this section

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section

Variations for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 2:

64
id Symbol AA change Variation ID SNP ID
1SCNN1Ap.Phe61LeuVAR_060793rs61758859
2SCNN1Ap.Val114IleVAR_060794rs61759861

Clinvar genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1SCNN1ANM_001038.5(SCNN1A): c.340G> A (p.Val114Ile)single nucleotide variantPathogenicrs61759861GRCh37Chr 12, 6483610: 6483610
2SCNN1ANM_001038.5(SCNN1A): c.1477T> C (p.Trp493Arg)single nucleotide variantPathogenicrs5742912GRCh37Chr 12, 6458350: 6458350
3SCNN1ANM_001038.5(SCNN1A): c.241C> T (p.Arg81Cys)single nucleotide variantPathogenicrs61759860GRCh37Chr 12, 6483709: 6483709

Expression for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 2

Search GEO for disease gene expression data for Bronchiectasis with or Without Elevated Sweat Chloride 2.

Pathways for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section

Compounds for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section

GO Terms for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section

Products for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet