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GENE - TERM ANNOTATION REPORT

RGD ID: 1589718
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Foxc1
Name: forkhead box C1
Acc ID: DOID:0110122
Term: Axenfeld-Rieger syndrome type 3
Definition: An Axenfeld-Rieger syndrome 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/9792859 "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)11554173CTDCTD Direct Evidence: marker/mechanism 
Foxc1 ISOFOXC1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Anterior chamber cleavage syndrome | ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3PMID:10713890 PMID:11170889 PMID:11589884 PMID:11740218 PMID:12592227 PMID:12614756 PMID:14506133 PMID:14578375 PMID:15277473 PMID:16638984 PMID:16936096 PMID:17013732 PMID:17197537 PMID:17210863 PMID:18498376 PMID:18708620 PMID:19279310 PMID:19513095 PMID:19668217 PMID:19793056 PMID:20881294 PMID:22382802 PMID:22569110 PMID:23239455 PMID:24556684 PMID:24914578 PMID:25741868 PMID:25786029 PMID:25967385 PMID:27124303 PMID:27804176 PMID:28432732 PMID:28492532 PMID:28513611 PMID:28979898 PMID:30143558 PMID:30457409 PMID:30653986 PMID:31836490 PMID:32295643 PMID:32475988 PMID:32499604 PMID:32631953 PMID:34551306 PMID:34741396 PMID:34745210 PMID:35882526 PMID:9326342 PMID:9620769 PMID:9792859
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