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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:4621
Term: holoprosencephaly
Definition: A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Holoprosencephaly "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1530/ "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)
FGFR1 ISOFGFR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly | ClinVar Annotator: match by term: Semilobar holoprosencephalyPMID:12627230 PMID:16199547 PMID:17154279 PMID:17530415 PMID:18034870 PMID:23812909 PMID:25741868 PMID:26931467 PMID:26942290 PMID:27363716 PMID:28492532 PMID:31200363 PMID:32724172 PMID:37805574
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