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GENE - TERM ANNOTATION REPORT

RGD ID: 1563280
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rab33a
Name: RAB33A, member RAS oncogene family
Acc ID: DOID:9000068
Term: X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
Definition: null
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)
Rab33a ISORAB33A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophyPMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 PMID:28492532 PMID:28842795
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