Gene-Disorder Association · Article
Gene
SMN2 Survival Of Motor Neuron 2, Centromeric
×
First reported
1997
Supporting publications
54
Manually curated Approved treatment annotated
Association Review
In brief The association between SMN2 (Survival Of Motor Neuron 2, Centromeric) and Spinal Muscular Atrophy is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.
Sources
2
Clinical variants
2
Symptoms
10
Compounds
3
Trials
50 of 54 via SMN2 compounds
Publications
54
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 2 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Interventions
Therapeutics 3 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 54 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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