Genopathy
Gene-Disorder Association · Article
Gene
COL17A1
Collagen Type XVII Alpha 1 Chain
Disorder
Junctional Epidermolysis Bullosa
First reported 1995
Supporting publications 22
Key publication · gene–disorder Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.Nature genetics · 1995
Key publication · disorder [Ultrastructure of epidermolyses with junctional blister formation (author's transl)].Dermatologica · 1979
Manually curated
Association Review

In brief

The association between COL17A1 (Collagen Type XVII Alpha 1 Chain) and Junctional Epidermolysis Bullosa is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 19
Symptoms 0
Compounds 0
Trials 0
Publications 22
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

2 sources

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

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03
COL17A1

The gene

1 source summary

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

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04
Junctional Epidermolysis Bullosa

The disorder

8 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

19 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

22 publications

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

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07
Provenance

References & sources

12 references

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

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