Publication
The eye in von Hippel-Lindau disease. Long-term follow-up of screening and treatment: recommendations.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
Linked entities
Linked entities (2)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 2
- geneVHLcivic_curation1.00
- variantVHL V170D (c.509T>A)civic_curation1.00
Curated evidence
Evidence citing this paper (2)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 9681858
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL Null (deletion)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 2 | submitted | EID1011320 patients from 6 families in the Netherlands were analyzed for opthalmological manifestations of VHL disease. Different mutations were found in all 6 families (missense mutations in A-E and a deleti… (full text at CIViC) PMID 9681858 · Wittebol-Post et al., 1998 · Open in CIViC | civic |
| VHL V170D (c.509T>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 4 | accepted | EID586320 patients from 6 families in the Netherlands were analyzed for Von Hippel Lindau manifestations. 1 family consisting of 12 members had the above mutation. Manifestations in this family included: ren… (full text at CIViC) PMID 9681858 · Wittebol-Post et al., 1998 · Open in CIViC | civic |