Genopathy
Gene-Disorder Association · Article
Gene
SCO2
Synthesis Of Cytochrome C Oxidase 2
Disorder
Spinal Muscular Atrophy
First reported 2002
Supporting publications 3
Key publication · gene–disorder Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.Archives of neurology · 2002
Key publication · disorder [Duration of disease and prognosis of different types of myatrophic lateral sclerosis and spinal muscular atrophy; catamnestic examinations].Der Nervenarzt · 1951
Manually curated
Association Review

In brief

The association between SCO2 (Synthesis Of Cytochrome C Oxidase 2) and Spinal Muscular Atrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 2
Symptoms 10
Compounds 0
Trials 0
Publications 3
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

1 source

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

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03
SCO2

The gene

1 source summary

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

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04
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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05
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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06
Literature

Reading

3 publications

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

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07
Provenance

References & sources

7 references

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

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