Genopathy
Gene-Disorder Association · Article
Gene
COL6A1
Collagen Type VI Alpha 1 Chain
Disorder
Collagen Vi-Related Dystrophies
First reported 2017
Supporting publications 20
Key publication · gene–disorder Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.Journal of clinical neurology (Seoul, Korea) · 2017
Key publication · disorder The syndrome of myosclerosis.Journal of neurology, neurosurgery, and psychiatry · 1973
Manually curated
Association Review

In brief

The association between COL6A1 (Collagen Type VI Alpha 1 Chain) and Collagen Vi-Related Dystrophies is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 211
Symptoms 0
Compounds 0
Trials 0
Publications 20
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

2 sources

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

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03
COL6A1

The gene

1 source summary

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

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04
Collagen Vi-Related Dystrophies

The disorder

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

211 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

20 publications

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

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07
Provenance

References & sources

11 references

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

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