MCID: BRN078
MIFTS: 21

Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of malady

Genetic diseases (common) category

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

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Looking for an antibody for researching bronchiectasis with or without elevated sweat chloride 1, modifier of?

CFTR antibody
SCNN1B antibody
MalaCards based summary: Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of is related to cystic fibrosis and bronchiectasis, and has symptoms including Array An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of is CFTR (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)), and among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 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 normal and respiratory system.

Description from OMIM:46 211400

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

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Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of, Aliases & Descriptions:

Name: Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of 46


Classifications:

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


Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

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

idRelated DiseaseScoreTop Affiliating Genes
1cystic fibrosis10.1CFTR
2bronchiectasis10.0CFTR
3liddle syndrome9.9SCNN1B, CFTR
4pseudohypoaldosteronism9.8SCNN1B, CFTR

Symptoms for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

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Symptoms by clinical synopsis from OMIM:

211400

Clinical features from OMIM:

211400

HPO human phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 bronchiectasis HP:0002110
3 chronic bronchitis HP:0004469
4 elevated sweat chloride HP:0012236

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

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Drug clinical trials:

Search ClinicalTrials for Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of

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

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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MGI Mouse Phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.1SCNN1B, CFTR
2MP:00053889.0SCNN1B, CFTR
3MP:00053818.8SCNN1B, CFTR

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

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Variations for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

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UniProtKB/Swiss-Prot genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of:

63
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

Clinvar genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of:

7
id Gene Name Type Significance SNP ID Assembly Location
1SCNN1BNM_000336.2(SCNN1B): c.800C> T (p.Pro267Leu)single nucleotide variantPathogenicrs137852709GRCh37Chr 16, 23379200: 23379200
2SCNN1BSCNN1B, IVS12AS, A-G, -2single nucleotide variantPathogenic
3SCNN1BNM_000336.2(SCNN1B): c.880G> A (p.Gly294Ser)single nucleotide variantPathogenicrs72654338GRCh37Chr 16, 23379280: 23379280
4SCNN1BNM_000336.2(SCNN1B): c.1615G> A (p.Glu539Lys)single nucleotide variantPathogenicrs137852710GRCh37Chr 16, 23391814: 23391814
5SCNN1BNM_000336.2(SCNN1B): c.1105C> A (p.Pro369Thr)single nucleotide variantPathogenicrs137852711GRCh37Chr 16, 23383157: 23383157
6SCNN1BNM_000336.2(SCNN1B): c.863A> G (p.Asn288Ser)single nucleotide variantPathogenicrs137852712GRCh37Chr 16, 23379263: 23379263
7SCNN1BNM_000336.2(SCNN1B): c.245C> G (p.Ser82Cys)single nucleotide variantPathogenicrs35731153GRCh37Chr 16, 23360165: 23360165

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

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Expression patterns in normal tissues for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of

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

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

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Pathways related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SCNN1B, CFTR
2
Show member pathways
9.1SCNN1B, CFTR
39.1SCNN1B, CFTR
49.1SCNN1B, CFTR

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

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Sources:
44Novoseek, 25HMDB, 29IUPHAR, 12DrugBank
See all sources

Compounds related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sodium44 2510.1SCNN1B, CFTR
2amiloride44 29 1210.8SCNN1B, CFTR

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

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Cellular components related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of according to GeneCards/GeneDecks:

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

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

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

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet