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GENE - TERM ANNOTATION REPORT

RGD ID: 3639
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Scnn1a
Name: sodium channel epithelial 1 subunit alpha
Acc ID: DOID:0060854
Term: autosomal recessive pseudohypoaldosteronism type 1
Definition: A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10202170 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/10404817 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8589714 "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 ISOSCNN1A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, RecessivePMID:10403853 PMID:10510337 PMID:10523338 PMID:10586178 PMID:11978598 PMID:12376807 PMID:1506904 PMID:15734793 PMID:16199547 PMID:16249274 PMID:17977920 PMID:19401469 PMID:19462466 PMID:20194130 PMID:21889619 PMID:21917531 PMID:23149595 PMID:23416952 PMID:24033266 PMID:25741868 PMID:26668308 PMID:27582106 PMID:28492532 PMID:28710092
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