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GENE - TERM ANNOTATION REPORT

RGD ID: 3640
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Scnn1b
Name: sodium channel epithelial 1 subunit beta
Acc ID: DOID:9000057
Term: Pseudohypoaldosteronism Type IB2, Autosomal Recessive
Definition: A pseudohypoaldosteronism characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. Caused by homozygous mutation in the beta subunit of the epithelial sodium channel (ENaC), SCNN1B, on chromosome 16p12.
Definition Source(s): MIM:620125
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)
Scnn1b ISOSCNN1B (Homo sapiens)7240710OMIM  
Scnn1b ISOSCNN1B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB2, autosomal recessivePMID:12107247 PMID:15853823 PMID:21504729 PMID:23426840 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31018202 PMID:8589714 PMID:9118951
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