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GENE - TERM ANNOTATION REPORT

RGD ID: 12303474
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: FGFR1
Name: fibroblast growth factor receptor 1
Acc ID: DOID:9000067
Term: Congenital Foot Deformities
Definition: Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.
Definition Source(s): MESH:D005532
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)
FGFR1 ISOFGFR1 (Homo sapiens)9068941RGDassociated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiplePMID:25394172 REF_RGD_ID:11098154
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