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GENE - TERM ANNOTATION REPORT

RGD ID: 733796
Species: Mus musculus
RGD Object: Gene
Symbol: Fzd4
Name: frizzled class receptor 4
Acc ID: DOID:0111412
Term: exudative vitreoretinopathy 1
Definition: An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12172548 "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)
Fzd4 ISOFZD4 (Homo sapiens)1598999RGD  
Fzd4 ISOFZD4 (Homo sapiens)7240710OMIM  
Fzd4 ISOFZD4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Fzd4 ISOFZD4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Exudative vitreoretinopathy 1 | ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominantPMID:12172548 PMID:14507768 PMID:15035989 PMID:15370539 PMID:15488808 PMID:15733276 PMID:15981244 PMID:17955262 PMID:19324841 PMID:20340138 PMID:20938005 PMID:21097938 PMID:21177847 PMID:21179236 PMID:21681106 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26227961 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129
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