Genopathy
Gene-Disorder Association · Article
Gene
MT-RNR1
Mitochondrially Encoded 12S RRNA
Disorder
Myoclonic Epilepsy Associated With Ragged-Red Fibers
First reported 1980
Key publication · disorder Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature.Journal of the neurological sciences · 1980
Manually curated
Association Review

In brief

The association between MT-RNR1 (Mitochondrially Encoded 12S RRNA) and Myoclonic Epilepsy Associated With Ragged-Red Fibers is a manually-curated gene–disease association, supported by 2 contributing sources, 1 of them expert-curated.

Sources 2
Clinical variants 0
Symptoms 21
Compounds 0
Trials 0
Publications 0
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

2 sources

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

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03
MT-RNR1

The gene

1 source summary

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

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04
Myoclonic Epilepsy Associated With Ragged-Red Fibers

The disorder

11 database identifiers

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

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05
Phenotype

Clinical features

17 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

6 references

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

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