Wagner disease: genes and variants
Wagner disease is linked to 1 analyzed protein (VCAN). 1 DNA variants are known to cause it; 51 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Wagner disease
VCAN: Versican core protein
It provides a large hydrated extracellular-matrix scaffold that regulates cell adhesion, migration, tissue mechanics, and development. Pathogenic variants can cause Wagner vitreoretinopathy, while altered expression and processing are important in cardiovascular remodeling, inflammation, and cancer.
1 disease-causing and 51 uncertain variants in VCAN are linked to Wagner disease.
Known disease-causing variants in Wagner disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| VCAN G3089R | 3089 | EGF-like 1 | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Wagner disease?
In CATVariant, Wagner disease is linked to 1 analyzed protein: VCAN (Versican core protein).
How many genetic variants are linked to Wagner disease?
67 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 51 are of uncertain significance or have conflicting reports.
Which uncertain variants in Wagner disease look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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