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PharmGKB contains no Clinical Variants that meet the highest level of criteria.
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.
|Alternate Names:||Watson disease; neurofibromatosis; von Recklinghausen disease|
|PharmGKB Accession Id:||PA31572|
|Cytogenetic Location:||chr17 : q11.2 - q11.2|
|GP mRNA Boundary†:||chr17 : 29421945 - 29704695|
|GP Gene Boundary†:||chr17 : 29411945 - 29707695|
UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.View on UCSC Browser
Publications related to NF1: 7
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
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- PW Pathway is available
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||Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway. Nature genetics. 2015. Shain A Hunter, et al.|
||Mutations and deregulation of Ras/Raf/MEK/ERK and PI3K/PTEN/Akt/mTOR cascades which alter therapy response. Oncotarget. 2012. McCubrey James A, et al.|
||Key pathways are frequently mutated in high risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood. 2011. Zhang Jinghui, et al.|
||Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008. Ding Li, et al.|
||An integrated genomic analysis of human glioblastoma multiforme. Science (New York, N.Y.). 2008. Parsons D Williams, et al.|
||The consensus coding sequences of human breast and colorectal cancers. Science (New York, N.Y.). 2006. Sjöblom Tobias, et al.|
||Double inactivation of NF1 in tibial pseudarthrosis. American journal of human genetics. 2006. Stevenson David A, et al.|