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GENE - TERM ANNOTATION REPORT

RGD ID: 732290
Species: Homo sapiens
RGD Object: Gene
Symbol: FGFR1
Name: fibroblast growth factor receptor 1
Acc ID: DOID:0111337
Term: Jackson-Weiss syndrome
Definition: A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/1271196 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7874170 "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 IAGP 7240710OMIM  
FGFR1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
FGFR1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalitiesPMID:25741868 PMID:28492532
FGFR1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndromePMID:25741868
FGFR1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Jackson-Weiss syndromePMID:10861678 PMID:10942429 PMID:1456217 PMID:14564217 PMID:14613973 PMID:16957473 PMID:18034870 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25251565 PMID:25741868 PMID:26942290 PMID:28492532 PMID:31837199 PMID:7795583 PMID:7874169
FGFR1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalitiesPMID:11173846 PMID:14513299 PMID:15793702 PMID:25741868 PMID:28492532
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