Genopathy
Gene-Disorder Association · Article
Gene
COL11A2
Collagen Type XI Alpha 2 Chain
Disorder
Deafness, Autosomal Recessive 53
First reported 2005
Supporting publications 2
Key publication · gene–disorder Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.Journal of medical genetics · 2005
Key publication · disorder A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan.European journal of human genetics : EJHG · 2003
Manually curated
Association Review

In brief

The association between COL11A2 (Collagen Type XI Alpha 2 Chain) and Deafness, Autosomal Recessive 53 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 81
Symptoms 2
Compounds 0
Trials 0
Publications 2
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

4 sources

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

Request access
03
COL11A2

The gene

1 source summary

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

Request access
04
Deafness, Autosomal Recessive 53

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

1 clinical feature

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

81 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

2 publications

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