Genopathy
Gene-Disorder Association · Article
Gene
COL1A1
Collagen Type I Alpha 1 Chain
Disorder
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
First reported 1973
Supporting publications 1
Key publication · disorder Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.Science (New York, N.Y.) · 1973
Association Review

In brief

The association between COL1A1 (Collagen Type I Alpha 1 Chain) and Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 45
Compounds 0
Trials 0
Publications 1
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

1 source

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

Request access
03
COL1A1

The gene

1 source summary

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

Request access
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).

Request access
05
Phenotype

Clinical features

20 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

2 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

1 publication

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

Request access
09
Provenance

References & sources

5 references

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

Request access