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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:14686
Term: Axenfeld-Rieger syndrome
Definition: An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Axenfeld_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome "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)12904042RGDDNA:mutation:cds:272T>C,p.I91T(human) 
Foxc1 ISOFOXC1 (Homo sapiens)12904044RGDDNA:mutation:cds:p.F112S(human) 
Foxc1 ISOFOXC1 (Homo sapiens)12904045RGDDNA:mutation:cds:p.Q120X(human) 
Foxc1 ISOFOXC1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing lossPMID:11740218 PMID:14506133 PMID:24914578 PMID:25741868 PMID:28492532 PMID:28979898 PMID:30143558 PMID:32475988 PMID:35882526
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