Publication
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.
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 (17)
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 17
- geneVHLcivic_curation1.00
- variantVHL E46* (c.136G>T)civic_curation1.00
- variantVHL E52K (c.154G>A)civic_curation1.00
- variantVHL G104A (c.311G>C)civic_curation1.00
- variantVHL H115Q (c.345C>G)civic_curation1.00
- variantVHL L158P (c.473T>C)civic_curation1.00
- variantVHL N78S (c.233A>G)civic_curation1.00
- variantVHL R107H (c.320G>A)civic_curation1.00
- variantVHL R113* (c.337C>T)civic_curation1.00
- variantVHL R161* (c.481C>T)civic_curation1.00
- variantVHL R167Q (c.500G>A)civic_curation1.00
- variantVHL R82P (c.245G>C)civic_curation1.00
- variantVHL S111C (c.331A>T)civic_curation1.00
- variantVHL S80R (c.238A>C)civic_curation1.00
- variantVHL V155L (c.463G>C)civic_curation1.00
- variantVHL Y156D (c.466T>G)civic_curation1.00
- variantVHL Y175* (c.525C>G)civic_curation1.00
Curated evidence
Evidence citing this paper (53)
50 items per page.
- 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
- 12202531
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| VHL Y156D (c.466T>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID6112A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeare… (full text at CIViC) PMID 12202531 · Dollfus et al., 2002 · Open in CIViC | civic |
| VHL Y175* (c.525C>A)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | N/A N/A | 3 | submitted | EID9980A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeare… (full text at CIViC) PMID 12202531 · Dollfus et al., 2002 · Open in CIViC | civic |
| VHL Y175* (c.525C>G)1 | ||||||||
| (predisposing) | Von Hippel-Lindau DiseaseUNRESOLVED | Predisposing | C | Supports Predisposition | 4 | accepted | EID9542A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database meeting diagnostic criteria of VHL disease revealed t… (full text at CIViC) PMID 12202531 · Dollfus et al., 2002 · Open in CIViC | civic |