Glaucoma 1, open angle, E: genes and variants
Glaucoma 1, open angle, E is linked to 1 analyzed protein (OPTN). 2 DNA variants are known to cause it; 139 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 Glaucoma 1, open angle, E
OPTN: Optineurin
It serves as an adaptor in selective autophagy, vesicle trafficking, and inflammatory signaling and helps target damaged mitochondria or protein aggregates for clearance. Pathogenic variants can cause amyotrophic lateral sclerosis or certain glaucomas depending on the mechanism.
2 disease-causing and 139 uncertain variants in OPTN are linked to Glaucoma 1, open angle, E.
Known disease-causing variants in Glaucoma 1, open angle, E
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| OPTN K557T | 557 | CCHC NOA-type | Disease-causing (★) |
| OPTN E50K | 50 | Coiled coil | Disease-causing |
Diseases related to Glaucoma 1, open angle, E
- Amyotrophic lateral sclerosis, also linked to OPTN
- Primary open angle glaucoma, also linked to OPTN
Frequently asked questions
Which genes are linked to Glaucoma 1, open angle, E?
In CATVariant, Glaucoma 1, open angle, E is linked to 1 analyzed protein: OPTN (Optineurin).
How many genetic variants are linked to Glaucoma 1, open angle, E?
144 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 139 are of uncertain significance or have conflicting reports.
Which uncertain variants in Glaucoma 1, open angle, E 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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