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GENE - TERM ANNOTATION REPORT

RGD ID: 1307097
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Wdfy3
Name: WD repeat and FYVE domain containing 3
Acc ID: DOID:0070295
Term: primary autosomal dominant microcephaly 18
Definition: A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27008544 "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)
Wdfy3 ISOWDFY3 (Homo sapiens)7240710OMIM  
Wdfy3 ISOWDFY3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant | ClinVar Annotator: match by term: WDFY3-related conditionPMID:25741868 PMID:27008544 PMID:28492532 PMID:31327001
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