Genopathy
Gene-Disorder Association · Article
Gene
NEFH
Neurofilament Heavy Chain
Disorder
Motor Neuron Disease
First reported 1998
Key publication · gene–disorder Protective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase.Proceedings of the National Academy of Sciences of the United States of America · 1998
Key publication · disorder [Bulbar syndrome; compression by occipital sequestrum; obstetrical trauma; secondary hydrocephalus].Anais paulistas de medicina e cirurgia · 1950
Manually curated
Association Review

In brief

The association between NEFH (Neurofilament Heavy Chain) and Motor Neuron Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 4
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

1 source

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

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03
NEFH

The gene

1 source summary

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

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04
Motor Neuron Disease

The disorder

9 database identifiers

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

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05
Provenance

References & sources

3 references

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

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