Genopathy
Gene-Disorder Association · Article
Gene
COL7A1
Collagen Type VII Alpha 1 Chain
Disorder
Recessive Dystrophic Epidermolysis Bullosa
First reported 1993
Supporting publications 92
Key publication · gene–disorder A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.Nature genetics · 1993
Key publication · disorder [Recessive dystrophic epidermolysis bullosa].La Pediatria · 1953
Manually curated
Association Review

In brief

The association between COL7A1 (Collagen Type VII Alpha 1 Chain) and Recessive Dystrophic Epidermolysis Bullosa is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 446
Symptoms 62
Compounds 0
Trials 0
Publications 92
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

3 sources

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

Request access
03
COL7A1

The gene

1 source summary

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

Request access
04
Recessive Dystrophic Epidermolysis Bullosa

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

58 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

446 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

92 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access