Genopathy
Gene-Disorder Association · Article
Gene
SMN1
Survival Of Motor Neuron 1, Telomeric
Disorder
Spinal Muscular Atrophy, Type Iii
First reported 1996
Supporting publications 23
Key publication · gene–disorder Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.Journal of medical genetics · 1996
Key publication · disorder Heredofamilial juvenile muscular atrophy simulating muscular dystrophy.A.M.A. archives of neurology and psychiatry · 1956
Manually curated
Association Review

In brief

The association between SMN1 (Survival Of Motor Neuron 1, Telomeric) and Spinal Muscular Atrophy, Type Iii is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 28
Symptoms 29
Compounds 0
Trials 0
Publications 23
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

5 sources

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

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03
SMN1

The gene

1 source summary

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

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04
Spinal Muscular Atrophy, Type Iii

The disorder

12 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

19 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

28 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

23 publications

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

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09
Provenance

References & sources

17 references

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

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