Genopathy
Gene-Disorder Association · Article
Gene
SMN1
Survival Of Motor Neuron 1, Telomeric
Disorder
Muscular Dystrophy
First reported 2001
Key publication · gene–disorder Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy.The Journal of cell biology · 2001
Key publication · disorder Myocardial lesions in progressive muscular dystrophy.A.M.A. archives of pathology · 1950
Manually curated
Association Review

In brief

The association between SMN1 (Survival Of Motor Neuron 1, Telomeric) and Muscular Dystrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 5
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
SMN1

The gene

1 source summary

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

Request access
04
Muscular Dystrophy

The disorder

9 database identifiers

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

Request access
05
Provenance

References & sources

3 references

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

Request access