LOC130001338 and Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive: Association Evidence

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Provenance

1 source

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

LOC130001338

1 source summary

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

Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive

6 database identifiers

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

Phenotype

6 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

ClinVar and variant evidence

2 clinical variants

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

Literature

1 publication

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

Provenance

5 references

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