Genopathy
Gene-Disorder Association · Article
Gene
COL1A1
Collagen Type I Alpha 1 Chain
Disorder
Ehlers-Danlos Syndrome
First reported 1991
Supporting publications 8
Key publication · gene–disorder A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.American journal of human genetics · 1991
Key publication · disorder Ehlers-Danlos syndrome associated with the tetralogy of Fallot.Archives of dermatology and syphilology · 1950
Manually curated
Association Review

In brief

The association between COL1A1 (Collagen Type I Alpha 1 Chain) and Ehlers-Danlos Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 85
Symptoms 3
Compounds 0
Trials 0
Publications 8
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
COL1A1

The gene

1 source summary

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

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04
Ehlers-Danlos Syndrome

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

85 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

8 publications

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

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07
Provenance

References & sources

13 references

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

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