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GENE - TERM ANNOTATION REPORT

RGD ID: 1561261
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Zic3
Name: Zic family member 3
Acc ID: DOID:0111766
Term: X-linked VACTERL association
Definition: A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15502827 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20452998 "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)
Zic3 ISOZIC3 (Homo sapiens)7240710OMIM  
Zic3 ISOZIC3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Zic3 ISOZIC3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalusPMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:2629409 PMID:26294094 PMID:28492532 PMID:32753700
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