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GENE - TERM ANNOTATION REPORT

RGD ID: 736324
Species: Homo sapiens
RGD Object: Gene
Symbol: SCNN1A
Name: sodium channel epithelial 1 subunit alpha
Acc ID: DOID:0080527
Term: bronchiectasis 2
Definition: A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel. (DO)
Definition Source(s): https://www.omim.org/entry/613021 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
SCNN1A IAGP 7240710OMIM  
SCNN1A EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
SCNN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2PMID:10523338 PMID:11978598 PMID:16249274 PMID:24033266 PMID:25741868 PMID:28492532
SCNN1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2PMID:25741868
SCNN1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2PMID:24033266 PMID:28492532
SCNN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2PMID:24033266
SCNN1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 
SCNN1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2PMID:28492532
SCNN1A IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2PMID:24033266 PMID:25741868 PMID:28492532
SCNN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2PMID:25741868 PMID:28492532
SCNN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2PMID:24033266 PMID:25741868
SCNN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Idiopathic bronchiectasisPMID:10403853 PMID:23392097 PMID:24033266
SCNN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2PMID:25741868 PMID:27582106 PMID:28492532
SCNN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2PMID:10510337 PMID:25741868
SCNN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2PMID:15734793 PMID:19462466 PMID:20194130 PMID:21917531 PMID:24033266 PMID:25741868 PMID:26668308 PMID:28492532
SCNN1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2PMID:10523338 PMID:1506904 PMID:21889619 PMID:23149595 PMID:24033266 PMID:25741868 PMID:28492532
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