Genopathy
Gene-Disorder Association · Article
Gene
COL5A1
Collagen Type V Alpha 1 Chain
Disorder
Classic Ehlers-Danlos Syndrome
First reported 2012
Supporting publications 10
Key publication · gene–disorder Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.Human mutation · 2012
Key publication · disorder An unusual connective tissue disease in mother and son: a "new" type of Ehlers-Danlos syndrome?Clinical genetics · 1982
Manually curated
Association Review

In brief

The association between COL5A1 (Collagen Type V Alpha 1 Chain) and Classic Ehlers-Danlos Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 200
Symptoms 67
Compounds 0
Trials 0
Publications 10
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
COL5A1

The gene

1 source summary

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

Request access
04
Classic Ehlers-Danlos Syndrome

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

66 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

200 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

10 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access