Genopathy
Gene-Disorder Association · Article
Gene
COL11A1
Collagen Type XI Alpha 1 Chain
Disorder
Intervertebral Disc Disease
First reported 2007
Supporting publications 1
Key publication · gene–disorder A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.American journal of human genetics · 2007
Key publication · disorder Lumbar disc herniation; the effect of torque on its causation and conservative treatment; a preliminary report.South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde · 1951
Manually curated
Association Review

In brief

The association between COL11A1 (Collagen Type XI Alpha 1 Chain) and Intervertebral Disc Disease is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a susceptibility locus.

Sources 3
Clinical variants 30
Symptoms 1
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.

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02
Provenance

Evidence and sources

3 sources

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

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03
COL11A1

The gene

1 source summary

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

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04
Intervertebral Disc Disease

The disorder

15 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

30 clinical variants

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

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06
Literature

Reading

1 publication

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

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07
Provenance

References & sources

6 references

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

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