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Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.
The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.
This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.
A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).
|PGx Test||Variants Assayed||Related Drugs?|
|Alternate Names:||Pfeiffer syndrome|
|Alternate Symbols: ||BFGFR; CD331; CEK; FLG; H2; H3; H4; H5; N-SAM|
|PharmGKB Accession Id:||PA28127|
|Cytogenetic Location:||chr8 : p12 - p11.22|
|GP mRNA Boundary†:||chr8 : 38268656 - 38326352|
|GP Gene Boundary†:||chr8 : 38265656 - 38336352|
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
Mechanism of action of sorafenib
VEGF Signaling Pathway
Model endothelial cell displaying genes of the VEGF signalling pathway and the sites at which bevacizumab, sorafenib, sunitinib, brivanib and cilengitide are known to act.
Links to non-PharmGKB pathways.
- FGF signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
- FGFR1c and Klotho ligand binding and activation - (Reactome via Pathway Interaction Database)
- FGFR1c ligand binding and activation - (Reactome via Pathway Interaction Database)
- Glypican 1 network - (Pathway Interaction Database NCI-Nature Curated)
- N-cadherin signaling events - (Pathway Interaction Database NCI-Nature Curated)
Publications related to FGFR1: 4
The following icons indicate that data of a certain type is available:
- DG Dosing Guideline information is available
- DL Drug Label information is available
- CA High-level Clinical Annotation is available
- VA Variant Annotation is available
- VIP VIP information is available
- PW Pathway is available
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||Vascular endothelial growth factor pathway. Pharmacogenetics and genomics. 2010. Maitland Michael L, et al.|
||Lymphoid gene expression as a predictor of risk of secondary brain tumors. Genes, chromosomes & cancer. 2005. Edick Mathew J, et al.|
||Tyrosine 766 in the fibroblast growth factor receptor-1 is required for FGF-stimulation of phospholipase C, phospholipase D, phospholipase A(2), phosphoinositide 3-kinase and cytoskeletal reorganisation in porcine aortic endothelial cells. Journal of cell science. 2000. Cross M J, et al.|
||Fibroblast growth factor receptor-1-mediated endothelial cell proliferation is dependent on the Src homology (SH) 2/SH3 domain-containing adaptor protein Crk. The Journal of biological chemistry. 1999. Larsson H, et al.|
- Entrez Gene:
- UCSC Genome Browser:
- RefSeq RNA:
- RefSeq Protein:
- RefSeq DNA: