MCID: BRN077

Bronchiectasis with or Without Elevated Sweat Chloride 3 malady

Respiratory diseases category

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Sources:
48OMIM, 34MalaCards
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MalaCards: Bronchiectasis with or Without Elevated Sweat Chloride 3 An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 3 is SCNN1G (sodium channel, non-voltage-gated 1, gamma subunit).

Description from OMIM:48 613071

Aliases & Classifications for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Sources:
48OMIM, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Respiratory diseases


Aliases & Descriptions:

bronchiectasis with or without elevated sweat chloride 3 48


External Ids:

ICD1026 J47

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Symptoms for Bronchiectasis with or Without Elevated Sweat Chloride 3

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48OMIM
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Symptoms by clinical synopsis from OMIM:

613071

Clinical features from OMIM:

613071

Drugs & Therapeutics for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Bronchiectasis with or Without Elevated Sweat Chloride 3

Search NIH Clinical Center for Bronchiectasis with or Without Elevated Sweat Chloride 3

Search CenterWatch for Bronchiectasis with or Without Elevated Sweat Chloride 3

Genetic Tests for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Animal Models for Bronchiectasis with or Without Elevated Sweat Chloride 3 or affiliated genes

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Publications for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Variations for Bronchiectasis with or Without Elevated Sweat Chloride 3

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1SCNN1GNM_001039.3(SCNN1G): c.547G> A (p.Gly183Ser)single nucleotide variantPathogenicrs5736GRCh37Chr 16, 23200921: 23200921
2SCNN1GNM_001039.3(SCNN1G): c.589G> A (p.Glu197Lys)single nucleotide variantPathogenicrs5738GRCh37Chr 16, 23200963: 23200963

Expression for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 3

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 3

Search GEO for disease gene expression data for Bronchiectasis with or Without Elevated Sweat Chloride 3.

Pathways for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 3

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Compounds for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 3

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GO Terms for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 3

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Products for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet