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GENE - TERM ANNOTATION REPORT

RGD ID: 1316815
Species: Homo sapiens
RGD Object: Gene
Symbol: FOXE3
Name: forkhead box E3
Acc ID: DOID:0060648
Term: anterior segment dysgenesis
Definition: An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17914436 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30242500 "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)
FOXE3 IAGP 1598957RGDDNA:insertion:cds:c.943_944insG (human) 
FOXE3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesisPMID:28492532
FOXE3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: Ocular anterior segment dysgenesisPMID:25741868 PMID:28492532
FOXE3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:20140963 PMID:28492532
FOXE3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:11159941 PMID:20140963 PMID:25741868 PMID:28492532
FOXE3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:16826526 PMID:20140963 PMID:24033328 PMID:28492532
FOXE3 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:26854927 PMID:28492532
FOXE3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:26854927 PMID:28492532 PMID:29314435
FOXE3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:19708017 PMID:20140963 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29136273 PMID:29314435 PMID:29878917 PMID:34046667
FOXE3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:20140963 PMID:25741868 PMID:28492532
FOXE3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:24689660 PMID:25741868 PMID:28492532
FOXE3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:28492532 PMID:33726816
FOXE3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:11980846 PMID:25504734 PMID:28492532 PMID:29136273
FOXE3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesisPMID:16826526 PMID:20361012 PMID:25741868 PMID:32499604 PMID:34046667
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