MCID: BRN077
MIFTS: 11

Bronchiectasis with or Without Elevated Sweat Chloride 3 malady

Genetic diseases (common) category

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

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Aliases & Descriptions for Bronchiectasis with or Without Elevated Sweat Chloride 3:

Name: Bronchiectasis with or Without Elevated Sweat Chloride 3 46 9 22


Classifications:



External Ids:

OMIM46 613071

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 3

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MalaCards based summary: Bronchiectasis with or Without Elevated Sweat Chloride 3 and has symptoms including autosomal dominant inheritance, bronchiectasis and chronic bronchitis. 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:46 613071

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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Symptoms by clinical synopsis from OMIM:

613071

Clinical features from OMIM:

613071

HPO human phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 3:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 bronchiectasis HP:0002110
3 chronic bronchitis HP:0004469

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

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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

Genetic Tests for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Genetic tests related to Bronchiectasis with or Without Elevated Sweat Chloride 3:

id Genetic test Affiliating Genes
1 Bronchiectasis with or Without Elevated Sweat Chloride 322

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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Clinvar genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 3:

5
id Gene Variation 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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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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Sources for Bronchiectasis with or Without Elevated Sweat Chloride 3

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet