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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:14705
Term: Pfeiffer syndrome
Definition: An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Pfeiffer_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome "DO" "DO", http://www.healthline.com/galecontent/pfeiffer-syndrome "DO" "DO", https://www.faces-cranio.org/pfeiffer "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)7240710OMIM  
FGFR1 ISOFGFR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1PMID:10861678 PMID:10942429 PMID:1456217 PMID:14564217 PMID:14613973 PMID:15605412 PMID:16764984 PMID:16957473 PMID:18034870 PMID:23643382 PMID:23657145 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25064402 PMID:25251565 PMID:25741868 PMID:26931467 PMID:26942290 PMID:28492532 PMID:28754744 PMID:31837199 PMID:7795583 PMID:7874169
FGFR1 ISOFGFR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ACS V | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:1456217 PMID:14564217 PMID:14613973 PMID:15605412 PMID:15793702 PMID:15845591 PMID:16199547 PMID:16764984 PMID:16882753 PMID:16957473 PMID:17154279 PMID:17530415 PMID:18034870 PMID:18160472 PMID:18985070 PMID:20696889 PMID:23329143 PMID:23533228 PMID:23643382 PMID:23657145 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25064402 PMID:25251565 PMID:25383892 PMID:25425165 PMID:25636053 PMID:25741868 PMID:25759380 PMID:26207952 PMID:26467025 PMID:26708526 PMID:26931467 PMID:26942290 PMID:27363716 PMID:27502037 PMID:28492532 PMID:28754744 PMID:30098700 PMID:31200363 PMID:31837199 PMID:32520725 PMID:32666525 PMID:32724172 PMID:33548149 PMID:35738466 PMID:37805574 PMID:7795583 PMID:7874169
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