Genopathy
Gene-Disorder Association · Article
Gene
ALS2
Alsin Rho Guanine Nucleotide Exchange Factor ALS2
Disorder
Amyotrophic Lateral Sclerosis 2, Juvenile
First reported 1994
Supporting publications 7
Key publication · gene–disorder Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.Nature genetics · 1994
Key publication · disorder Amyotrophic familial spastic paraplegia.Neurology · 1954
Manually curated
Association Review

In brief

The association between ALS2 (Alsin Rho Guanine Nucleotide Exchange Factor ALS2) and Amyotrophic Lateral Sclerosis 2, Juvenile is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 144
Symptoms 63
Compounds 0
Trials 0
Publications 7
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
ALS2

The gene

1 source summary

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

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04
Amyotrophic Lateral Sclerosis 2, Juvenile

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
Phenotype

Clinical features

49 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

144 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

7 publications

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

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09
Provenance

References & sources

13 references

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

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