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GENE - TERM ANNOTATION REPORT

RGD ID: 32732569
Species: Pan paniscus
RGD Object: Gene
Symbol: FOXC1
Name: forkhead box C1
Acc ID: DOID:0080608
Term: anterior segment dysgenesis 3
Definition: An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27839872 "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)
FOXC1 ISOFOXC1 (Homo sapiens)7240710OMIM  
FOXC1 ISOFOXC1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familialPMID:11007653 PMID:11170889 PMID:12036988 PMID:19668217 PMID:19793056 PMID:24556684 PMID:25741868 PMID:28492532 PMID:30143558 PMID:32475988 PMID:32832252 PMID:34741396 PMID:34745210 PMID:9620769 PMID:9792859
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