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Gene

VHL

VHL is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (12), Actionable biomarkers (4), Trial mentions (91), and 7 more evidence types, each linked to its source.

Ensembl ENSG00000134086 UniProt P40337 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 12 Actionable biomarkers Actionable biomarkers 4 Trial mentions Trial mentions 91 Target-disease associations Target-disease associations 584 Vendor sourcing Vendor sourcing 306 Trial-cited literature Trial-cited literature 370 Protein variant mentions Protein variant mentions 45 Human sample screening reference Human sample screening reference 3 Assay-provider ledger Assay-provider ledger 12 Actionable biomarkers Actionable biomarkers 4 Trial mentions Trial mentions 91 Target-disease associations Target-disease associations 584 Vendor sourcing Vendor sourcing 306 Trial-cited literature Trial-cited literature 370 Protein variant mentions Protein variant mentions 45 Human sample screening reference Human sample screening reference 3

Rows recorded per section (log scale)

2 more sections with rows · 2 sections measured, none recorded

Cancer actionable (CGI)

Curated as clinically actionable in cancer by the Cancer Genome Interpreter.

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The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention VHL. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 9 at the structurally incomplete recent edge.

The yearly numbers
VHL per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2026. The share is of the trials and papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Trial mentions Share of that year Publication mentions Share of that year
2026 8 of 8,738 0.09% not measured
2025 1 of 8,875 0.01% not measured
2024 8 of 8,597 0.09% not measured
2023 9 of 8,275 0.11% 13 of 11,460 0.11%
2022 4 of 8,285 0.05% 23 of 13,598 0.17%
2021 5 of 8,692 0.06% 29 of 15,045 0.19%
2020 3 of 7,640 0.04% 28 of 14,459 0.19%
2019 6 of 7,300 0.08% 28 of 12,159 0.23%
2018 5 of 6,927 0.07% 21 of 11,854 0.18%
2017 8 of 6,558 0.12% 23 of 11,595 0.20%

Showing 10 of 37 years.

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Assay-provider ledger (12)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
University of Pittsburgh Medical Center Not a company Clinical validation 1 April 01, 2026
UPMC Molecular & Genomic Pathology (MGP) Laboratory Not a company Clinical validationAnalytical validation 1 January 01, 2020
University of Pittsburgh Medical Center (UPMC) Molecular & Genomic Pathology Laboratory Not a company Clinical validationAnalytical validation 1 December 01, 2018
Broad Institute Not a company Clinical validationAnalytical validation 1 June 15, 2018
QIAGEN Reagent supplier Clinical validationAnalytical validation 2 June 15, 2018

Showing 5 of 12 assay-provider companies.

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Actionable biomarkers (4)

Shown in this order: fixed catalogue order, not ranked.

Actionable biomarkers
Alteration Drug Response Disease Source
VHL oncogenic mutation Sorafenib response-associated renal carcinoma Cancer Genome Interpreter
VHL oncogenic mutation AXITINIB response-associated renal carcinoma Cancer Genome Interpreter
VHL oncogenic mutation BEVACIZUMAB response-associated renal carcinoma Cancer Genome Interpreter
VHL oncogenic mutation SUNITINIB response-associated renal carcinoma Cancer Genome Interpreter

Trial mentions (91)

Shown in this order: fixed catalogue order, not by date.

Trial mentions
Trial Source
NCT03839498 Trial eligibility (AACT)
NCT07627464 Trial eligibility (AACT)
NCT07167329 Trial eligibility (AACT)
NCT00385333 Trial eligibility (AACT)
NCT05563272 Trial eligibility (AACT)

Showing 5 of 91 trial mentions.

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Target-disease associations (584)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
Adult-onset autosomal recessive sideroblastic anemia genetic, familial or congenital disease Mouse knockout (IMPC)
Alpha-thalassemia genetic, familial or congenital disease Mouse knockout (IMPC)
Alpha-thalassemia - myelodysplastic syndrome genetic, familial or congenital disease Mouse knockout (IMPC)
Alzheimer disease nervous system disease Literature (Europe PMC)
Angel-shaped phalango-epiphyseal dysplasia genetic, familial or congenital disease Literature (Europe PMC)

Showing 5 of 584 associations.

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Vendor sourcing (306)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
3billion, Inc. (South Korea) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The variant has been reported to be associated with VHL related disorder (ClinVar ID: VCV000428796).It is not observed in the gnomAD v2.1.1 dataset (PM2_M). ... View ClinVar record SCV002058542.1
AC Camargo Hospital Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria : * Age ≥ 14 years. * Clinical or genetic confirmation of von Hippel-Lindau (VHL) syndrome. * Presence of measurable or progressive VHL-associated tumors, a... View trial NCT07167329
AC Camargo Hospital Trial collaborator Mentioned in trial textTrial free-text mention VHL View trial NCT07167329
ARUP Laboratories (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The VHL c.500G>A; p.Arg167Gln variant (rs5030821, ClinVar variation ID: 2216), also reported as p.Arg238Gln, is one of the most common pathogenic variants in... View ClinVar record SCV000605562.2
Abramson Cancer Center Trial sponsor Mentioned in trial textTrial free-text mention VHL View trial NCT01253668

Showing 5 of 306 sourcing records.

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Trial-cited literature (370)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
A neoantigen vaccine generates antitumour immunity in renal cell carcinoma. Nature 2025 151
Pembrolizumab plus axitinib versus sunitinib for advanced clear cell renal cell carcinoma: 5-year survival and biomarker analyses of the phase 3 KEYNOTE-426 trial. Nature medicine 2025 44
Belzutifan for von Hippel-Lindau disease-associated renal cell carcinoma and other neoplasms (LITESPARK-004): 50 months follow-up from a single-arm, phase 2 study. The Lancet. Oncology 2025 30
Germline Mutations as Cancer Drug Targets. Cancer discovery 2025 3
Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease. Pituitary 2025 2

Showing 5 of 370 papers.

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Protein variant mentions (45)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.C162R 1 1995 PMID 7728151
p.D213E 1 2015 PMID 25741868
p.E12D 1 2015 PMID 25741868
p.E32G 1 2015 PMID 25741868
p.E41K 1 2012 PMID 22683710

Showing 5 of 45 variants.

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Human sample screening reference (3)

Shown in this order: alphabetical by variant.

Human sample screening reference
Variant GDC project Disease / site Affected cases Profiled cases Observed frequency 95% interval
p.L188P CPTAC-3 Not Applicable; Transitional Cell Papillomas and Carcinomas; Ductal and Lobular Neoplasms; Adenomas and Adenocarcinomas; Gliomas; Epithelial Neoplasms, NOS; Complex Epithelial Neoplasms; Complex Mixed and Stromal Neoplasms; Lipomatous Neoplasms; Squamous Cell Neoplasms; Myeloid Leukemias; Nevi and Melanomas; Stomach; Other and ill-defined sites in lip, oral cavity and pharynx; Unknown; Colon; Other and unspecified urinary organs; Floor of mouth; Other and unspecified parts of mouth; Gum; Bronchus and lung; Oropharynx; Other and unspecified parts of tongue; Base of tongue; Breast; Other and ill-defined sites; Larynx; Lip; Uterus, NOS; Hematopoietic and reticuloendothelial systems; Kidney; Brain; Skin; Pancreas; Tonsil 1 1,815 0.06% 0.01% to 0.31%
p.L188P TCGA-KIRC Adenomas and Adenocarcinomas; Kidney 2 536 0.37% 0.10% to 1.35%
p.S68W CPTAC-3 Not Applicable; Transitional Cell Papillomas and Carcinomas; Ductal and Lobular Neoplasms; Adenomas and Adenocarcinomas; Gliomas; Epithelial Neoplasms, NOS; Complex Epithelial Neoplasms; Complex Mixed and Stromal Neoplasms; Lipomatous Neoplasms; Squamous Cell Neoplasms; Myeloid Leukemias; Nevi and Melanomas; Stomach; Other and ill-defined sites in lip, oral cavity and pharynx; Unknown; Colon; Other and unspecified urinary organs; Floor of mouth; Other and unspecified parts of mouth; Gum; Bronchus and lung; Oropharynx; Other and unspecified parts of tongue; Base of tongue; Breast; Other and ill-defined sites; Larynx; Lip; Uterus, NOS; Hematopoietic and reticuloendothelial systems; Kidney; Brain; Skin; Pancreas; Tonsil 1 1,815 0.06% 0.01% to 0.31%

Literature-extracted relations (111)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
SUNITINIB Chemical associate Pembrolizumab plus axitinib versus sunitinib for advanced clear cell renal cell carcinoma: 5-year survival and biomarker analyses of the phase 3 KEYNOTE-426 trial. 2025
VORINOSTAT Chemical negative_correlate Proteostasis Modulation in Germline Missense von Hippel Lindau Disease. 2023
SUNITINIB Chemical positive_correlate Dynamic epigenetic changes to VHL occur with sunitinib in metastatic clear cell renal cancer. 2016
Oxygen Chemical associate VHL, the story of a tumour suppressor gene. 2015
Oxygen Chemical associate Comprehensive molecular characterization of clear cell renal cell carcinoma. 2013

Showing 5 of 111 relation assertions.

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Organizations publishing (298)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Government of the United States of America Government 29 1996 to 2025
Memorial Sloan Kettering Cancer Center Hospital 28 2013 to 2025
The University of Texas System Academic 20 2003 to 2025
Harvard Medical School Academic 18 1996 to 2025
Dana-Farber Cancer Institute Other 15 1996 to 2025

Showing 5 of 298 organizations.

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Where VHL appears

  • animal disease
  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • hematologic disease
  • immune system disease
  • infectious disease
  • measurement
  • nervous system disease
  • nutritional or metabolic disease
  • phenotype
  • pregnancy or perinatal disease
  • reproductive system or breast disease
  • respiratory or thoracic disease
  • urinary system disease

504 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions and fda biomarker qualification projects.

Browse all biomarker evidence pages