Gene-Disorder Association · Article
Gene
SMN1 Survival Of Motor Neuron 1, Telomeric
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First reported
1995
Supporting publications
108
Manually curated Approved treatment annotated
Association Review
In brief The association between SMN1 (Survival Of Motor Neuron 1, Telomeric) and Spinal Muscular Atrophy is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.
Sources
2
Clinical variants
31
Symptoms
10
Compounds
5
Trials
59 of 104 via SMN1 compounds
Publications
108
Contents
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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Provenance
Evidence and sources 2 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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A gene summary alongside the source descriptions it was distilled from.
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Spinal Muscular Atrophy
The disorder 9 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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ClinVar and variant evidence
Genetic basis 31 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Interventions
Therapeutics 5 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 104 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 14 references
Every source and publication cited across this dossier, as one numbered reference list.
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