MCID: BRN076
MIFTS: 19

Bronchiectasis with or Without Elevated Sweat Chloride 1 malady

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 1

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46OMIM, 32MalaCards
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MalaCards: Bronchiectasis with or Without Elevated Sweat Chloride 1 is related to bronchiectasis with or without elevated sweat chloride 1, modifier of and bronchiectasis. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 1 is SCNN1B (sodium channel, non-voltage-gated 1, beta subunit), and among its related pathways are SLC-mediated transmembrane transport and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The compounds sodium and amiloride have been mentioned in the context of this disorder. Related mouse phenotypes are digestive/alimentary and respiratory system.

Description from OMIM:46 211400

Aliases & Classifications for Bronchiectasis with or Without Elevated Sweat Chloride 1

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46OMIM
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Aliases & Descriptions:

bronchiectasis with or without elevated sweat chloride 1 46


Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 1

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17GeneCards, 18GeneDecks
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Diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1bronchiectasis with or without elevated sweat chloride 1, modifier of10.7
2bronchiectasis10.0CFTR
3sinusitis10.0CFTR
4cholera10.0CFTR
5liddle syndrome10.0SCNN1B
6primary hyperoxaluria10.0SCNN1B
7cystic fibrosis10.0CFTR
8pseudohypoaldosteronism10.0CFTR, SCNN1B

Graphical network of diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 1:



Diseases related to bronchiectasis with or without elevated sweat chloride 1

Clinical Features for Bronchiectasis with or Without Elevated Sweat Chloride 1

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46OMIM
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Clinical features from OMIM:

211400

Drugs & Therapeutics for Bronchiectasis with or Without Elevated Sweat Chloride 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Bronchiectasis with or Without Elevated Sweat Chloride 1

Drug clinical trials:

Search ClinicalTrials for Bronchiectasis with or Without Elevated Sweat Chloride 1

Search NIH Clinical Center for Bronchiectasis with or Without Elevated Sweat Chloride 1

Search CenterWatch for Bronchiectasis with or Without Elevated Sweat Chloride 1

Genetic Tests for Bronchiectasis with or Without Elevated Sweat Chloride 1

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Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 1

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Animal Models for Bronchiectasis with or Without Elevated Sweat Chloride 1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1CFTR, SCNN1B
2MP:00053888.8CFTR, SCNN1B

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 1

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Genetic Variations for Bronchiectasis with or Without Elevated Sweat Chloride 1

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 1:

62
id Symbol AA change Variation ID SNP ID
1SCNN1Bp.Ser82CysVAR_062401rs35731153
2SCNN1Bp.Pro267LeuVAR_062402
3SCNN1Bp.Asn288SerVAR_062403
4SCNN1Bp.Gly294SerVAR_062404
5SCNN1Bp.Val348MetVAR_062405
6SCNN1Bp.Pro369ThrVAR_062406
7SCNN1Bp.Glu539LysVAR_062407

Expression for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1

Search GEO for disease gene expression data for Bronchiectasis with or Without Elevated Sweat Chloride 1.

Pathways for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1

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53Reactome, 51QIAGEN
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Pathways related to Bronchiectasis with or Without Elevated Sweat Chloride 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1CFTR, SCNN1B
2
Hide members
9.1CFTR, SCNN1B
3
CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
9.1CFTR, SCNN1B
4
NO-dependent CFTR activation (normal and CF)
9.1CFTR, SCNN1B

Compounds for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Bronchiectasis with or Without Elevated Sweat Chloride 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium44 2410.1CFTR, SCNN1B
2amiloride44 28 1110.8CFTR, SCNN1B

GO Terms for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1

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16Gene Ontology
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Cellular components related to Bronchiectasis with or Without Elevated Sweat Chloride 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.1CFTR, SCNN1B

Biological processes related to Bronchiectasis with or Without Elevated Sweat Chloride 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:0550859.1CFTR, SCNN1B

Products for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1

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  • Antibodies
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Sources for Bronchiectasis with or Without Elevated Sweat Chloride 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet