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GENE - TERM ANNOTATION REPORT

RGD ID: 621703
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Foxc2
Name: forkhead box C2
Acc ID: DOID:0111509
Term: lymphedema-distichiasis syndrome
Definition: A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11078474 "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)
Foxc2 ISOFOXC2 (Homo sapiens)7240710OMIM  
Foxc2 ISOFOXC2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:11078474
Foxc2 ISOFOXC2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Distichiasis-lymphedema syndromePMID:10417285 PMID:11078474 PMID:11371511 PMID:11499682 PMID:12114478 PMID:12485195 PMID:16081467 PMID:18197197 PMID:19760751 PMID:20301630 PMID:22768468 PMID:24278289 PMID:25252123 PMID:25741868 PMID:27276711 PMID:28492532 PMID:28724617 PMID:31460188 PMID:32411386 PMID:33897756 PMID:35716761
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