Genopathy
Gene-Disorder Association · Article
Gene
COL2A1
Collagen Type II Alpha 1 Chain
Disorder
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
First reported 2005
Supporting publications 1
Key publication · gene–disorder A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.Human genetics · 2005
Key publication · disorder A bone dysplasia with deafness.The British journal of radiology · 1974
Manually curated
Association Review

In brief

The association between COL2A1 (Collagen Type II Alpha 1 Chain) and Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 1
Symptoms 87
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

2 sources

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

Request access
03
COL2A1

The gene

1 source summary

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

Request access
04
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

The disorder

13 database identifiers

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

Request access
05
Phenotype

Clinical features

61 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

1 clinical variant

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

8 references

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

Request access