Genopathy
Gene-Disorder Association · Article
Gene
SIGMAR1
Sigma Non-Opioid Intracellular Receptor 1
Disorder
Amyotrophic Lateral Sclerosis 16, Juvenile
First reported 2011
Supporting publications 19
Key publication · gene–disorder A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.Annals of neurology · 2011
Key publication · disorder El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors.Journal of the neurological sciences · 1994
Manually curated
Association Review

In brief

The association between SIGMAR1 (Sigma Non-Opioid Intracellular Receptor 1) and Amyotrophic Lateral Sclerosis 16, Juvenile is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 173
Symptoms 15
Compounds 0
Trials 0
Publications 19
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

4 sources

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

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03
SIGMAR1

The gene

2 source summaries

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

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04
Amyotrophic Lateral Sclerosis 16, Juvenile

The disorder

7 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

6 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

173 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

19 publications

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

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09
Provenance

References & sources

16 references

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

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