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GENE - TERM ANNOTATION REPORT

RGD ID: 1310949
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sos1
Name: SOS Ras/Rac guanine nucleotide exchange factor 1
Acc ID: DOID:6420
Term: pulmonary valve stenosis
Definition: The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.
Definition Source(s): MESH:D011666
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)
Sos1 ISOSOS1 (Homo sapiens)11063543RGDassociated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human) 
Sos1 ISOSOS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pulmonic stenosisPMID:17143285 PMID:17586837 PMID:20186801 PMID:20301303 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489
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