Genopathy
Gene-Disorder Association · Article
Gene
ALS2
Alsin Rho Guanine Nucleotide Exchange Factor ALS2
Disorder
Juvenile Amyotrophic Lateral Sclerosis
First reported 1968
Supporting publications 1
Key publication · disorder Juvenile amyotrophic lateral sclerosis-dementia complex in a Dutch family.Neurology · 1968
Manually curated
Association Review

In brief

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

Sources 3
Clinical variants 1
Symptoms 49
Compounds 0
Trials 0
Publications 1
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
Juvenile Amyotrophic Lateral Sclerosis

The disorder

4 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

46 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

1 clinical variant

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

1 publication

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

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09
Provenance

References & sources

7 references

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

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