Genopathy
Gene-Disorder Association · Article
Gene
COL5A2
Collagen Type V Alpha 2 Chain
Disorder
Ehlers-Danlos Syndrome, Classic Type, 2
First reported 2010
Supporting publications 3
Key publication · gene–disorder Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.Genetics in medicine : official journal of the American College of Medical Genetics · 2010
Key publication · disorder Cutaneous manifestations associated with aminoaciduria. Report of two cases.Dermatologica · 1978
Manually curated
Association Review

In brief

The association between COL5A2 (Collagen Type V Alpha 2 Chain) and Ehlers-Danlos Syndrome, Classic Type, 2 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 221
Symptoms 25
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

4 sources

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

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03
COL5A2

The gene

1 source summary

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

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04
Ehlers-Danlos Syndrome, Classic Type, 2

The disorder

7 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

18 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

221 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

3 publications

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

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09
Provenance

References & sources

9 references

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

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