MCID: BRN076

Bronchiectasis with or Without Elevated Sweat Chloride 1 malady

Genetic diseases (common) category
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Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 1

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MalaCards based summary: Bronchiectasis with or Without Elevated Sweat Chloride 1 is related to bronchiectasis with or without elevated sweat chloride 1, modifier of. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 1 is SCNN1B (sodium channel, non-voltage-gated 1, beta subunit).

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, Aliases & Descriptions:

Name: Bronchiectasis with or Without Elevated Sweat Chloride 1 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 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

Symptoms for Bronchiectasis with or Without Elevated Sweat Chloride 1

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Clinical features from OMIM:

211400

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

Search NIH Clinical Center 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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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:

64
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:

6
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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet