Gene:
VHL
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

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.

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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?

Overview

Alternate Names:  None
Alternate Symbols:  VHL1
PharmGKB Accession Id: PA37307

Details

Cytogenetic Location: chr3 : p25.3 - p25.3
GP mRNA Boundary: chr3 : 10183319 - 10195354
GP Gene Boundary: chr3 : 10173319 - 10198354
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. hypoxia-inducible factor in the cardivascular system - (BioCarta via Pathway Interaction Database)
  2. Hypoxic and oxygen homeostasis regulation of HIF-1-alpha - (Pathway Interaction Database NCI-Nature Curated)
  3. Signaling events mediated by VEGFR1 and VEGFR2 - (Pathway Interaction Database NCI-Nature Curated)
  4. vegf hypoxia and angiogenesis - (BioCarta via Pathway Interaction Database)
No related genes are available

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
von Hippel-Lindau Disease

Publications related to VHL: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in medicine : official journal of the American College of Medical Genetics. 2013. Green Robert C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A randomized trial of bevacizumab, an anti-vascular endothelial growth factor antibody, for metastatic renal cancer. The New England journal of medicine. 2003. Yang James C, et al. PubMed

LinkOuts

Entrez Gene:
7428
OMIM:
144700
171300
193300
263400
608537
UCSC Genome Browser:
NM_000551
RefSeq RNA:
NM_000551
NM_198156
RefSeq Protein:
NP_000542
NP_937799
MutDB:
VHL
ALFRED:
LO136399F
HuGE:
VHL
Comparative Toxicogenomics Database:
7428
HumanCyc Gene:
HS05817
HGNC:
12687

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