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GENE - TERM ANNOTATION REPORT

RGD ID: 1551179
Species: Mus musculus
RGD Object: Gene
Symbol: Des
Name: desmin
Acc ID: DOID:12120
Term: pulmonary alveolar proteinosis
Definition: A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis "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)
Des ISODES (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pulmonary alveolar proteinosisPMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32268277 PMID:32403337
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