MCID: BRN076

Bronchiectasis with or Without Elevated Sweat Chloride 1 malady

Genetic diseases (common) category

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 1

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48OMIM, 34MalaCards
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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. 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:48 211400

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

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48OMIM
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Classifications:

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


Aliases & Descriptions:

bronchiectasis with or without elevated sweat chloride 1 48


Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 1

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18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

211400

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

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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 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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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 1:

65
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:

1
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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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 1

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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
  • Antibodies

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
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