Genopathy
Gene-Disorder Association · Article
Gene
COL1A2
Collagen Type I Alpha 2 Chain
Disorder
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
First reported 1987
Supporting publications 17
Key publication · gene–disorder Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.The Journal of biological chemistry · 1987
Key publication · disorder Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.Science (New York, N.Y.) · 1973
Manually curated
Association Review

In brief

The association between COL1A2 (Collagen Type I Alpha 2 Chain) and Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 173
Symptoms 45
Compounds 0
Trials 0
Publications 17
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

3 sources

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

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03
COL1A2

The gene

1 source summary

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

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04
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

20 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

173 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

17 publications

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

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09
Provenance

References & sources

13 references

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

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