Genopathy
Gene-Disorder Association · Article
Gene
NHLRC1
NHL Repeat Containing E3 Ubiquitin Protein Ligase 1
Disorder
Epilepsy
First reported 2003
Supporting publications 2
Key publication · gene–disorder Mutations in NHLRC1 cause progressive myoclonus epilepsy.Nature genetics · 2003
Key publication · disorder [Differential diagnosis of genuine and so-called traumatic epilepsy].Archiv fur Psychiatrie und Nervenkrankheiten, vereinigt mit Zeitschrift fur die gesamte Neurologie und Psychiatrie · 1950
Manually curated
Association Review

In brief

The association between NHLRC1 (NHL Repeat Containing E3 Ubiquitin Protein Ligase 1) and Epilepsy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 11
Compounds 0
Trials 0
Publications 2
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

1 source

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

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03
NHLRC1

The gene

1 source summary

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

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04
Epilepsy

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
Literature

Reading

2 publications

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

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06
Provenance

References & sources

5 references

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

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