Genopathy
Gene-Disorder Association · Article
Gene
OPA1
OPA1 Mitochondrial Dynamin Like GTPase
Disorder
Glaucoma, Normal Tension
First reported 2002
Supporting publications 4
Key publication · gene–disorder A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.Human genetics · 2002
Key publication · disorder The results of surgery for low-tension glaucoma.American journal of ophthalmology · 1953
Manually curated
Association Review

In brief

The association between OPA1 (OPA1 Mitochondrial Dynamin Like GTPase) and Glaucoma, Normal Tension is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis, pathogenic variants, and a susceptibility locus.

Sources 3
Clinical variants 7
Symptoms 1
Compounds 0
Trials 0
Publications 4
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
OPA1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Glaucoma, Normal Tension

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

7 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

4 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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07
Provenance

References & sources

9 references

Every source and publication cited across this dossier, as one numbered reference list.

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