Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
FKHL7
FREAC3 Forkhead-related transcription factor 7 |
| gptkbp:associatedWith |
glaucoma
Axenfeld-Rieger syndrome anterior segment dysgenesis |
| gptkbp:discoveredBy |
genetic studies of Axenfeld-Rieger syndrome
|
| gptkbp:encodes |
Forkhead box protein C1
|
| gptkbp:Entrez_Gene_ID |
2296
|
| gptkbp:expressedIn |
gptkb:kidney
eye heart |
| gptkbp:function |
transcription factor
|
| gptkbp:HGNC_ID |
gptkb:HGNC:3817
|
| https://www.w3.org/2000/01/rdf-schema#label |
FOXC1
|
| gptkbp:locatedOnChromosome |
6p25
|
| gptkbp:memberOf |
forkhead box (FOX) family
|
| gptkbp:mutationAssociatedWith |
hearing loss
craniofacial abnormalities developmental eye disorders |
| gptkbp:OMIM |
601090
|
| gptkbp:orthologInMouse |
Foxc1
|
| gptkbp:regulates |
embryonic development
ocular development mesenchymal cell differentiation |
| gptkbp:UniProtID |
Q12948
|
| gptkbp:bfsParent |
gptkb:Forkhead_box_(FOX)_protein_family
|
| gptkbp:bfsLayer |
7
|