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GENE - TERM ANNOTATION REPORT

RGD ID: 1308578
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Osgep
Name: O-sialoglycoprotein endopeptidase
Acc ID: DOID:0080694
Term: Galloway-Mowat syndrome
Definition: A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome "DO" "DO", PMID:20083416 "DO" "DO", PMID:26123727 "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)
Osgep ISOOSGEP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:28805828
Osgep ISOOSGEP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Galloway-Mowat syndromePMID:17897280 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 PMID:30141175 PMID:31481669
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