Cataract: genes and variants
Cataract is linked to 2 analyzed proteins (RHO and VIM). 2 DNA variants are known to cause it; 20 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Cataract 30
Genes linked to Cataract
RHO: Rhodopsin
Photon absorption converts its retinal chromophore and triggers the G-protein cascade that initiates rod phototransduction. Pathogenic variants are a major cause of autosomal dominant retinitis pigmentosa and can also cause congenital stationary night blindness.
1 disease-causing and 0 uncertain variants in RHO are linked to Cataract.
VIM: Vimentin
It forms intermediate filaments that provide structural resilience and organize organelles in mesenchymal and migratory cells. Altered expression is a hallmark of epithelial-to-mesenchymal transition and tissue injury, while rare pathogenic variants can cause cataract or other tissue-specific phenotypes.
1 disease-causing and 20 uncertain variants in VIM are linked to Cataract.
Known disease-causing variants in Cataract
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| RHO S297R | 297 | Transmembrane | Disease-causing (★★) |
| VIM E151K | 151 | IF rod | Disease-causing |
Same protein, different disease
- Retinitis pigmentosa is also caused by RHO variants; they fall mostly in different places as the Cataract variants (65 disease-causing).
- Pigmentary retinal dystrophy is also caused by RHO variants; they fall mostly in different places as the Cataract variants (5 disease-causing).
- Congenital stationary night blindness autosomal dominant 3 is also caused by RHO variants; they fall mostly in different places as the Cataract variants (3 disease-causing).
- Retinal disorder is also caused by RHO variants; they fall mostly in different places as the Cataract variants (3 disease-causing).
Diseases related to Cataract
- Retinitis pigmentosa, also linked to RHO
- Retinal disorder, also linked to RHO
- Congenital stationary night blindness autosomal dominant 3, also linked to RHO
- Pigmentary retinal dystrophy, also linked to RHO
Frequently asked questions
Which genes are linked to Cataract?
In CATVariant, Cataract is linked to 2 analyzed proteins: RHO (Rhodopsin) and VIM (Vimentin).
How many genetic variants are linked to Cataract?
25 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 20 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cataract 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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