Genopathy
Gene-Disorder Association · Article
Gene
LOC130003630
ATAC-STARR-Seq Lymphoblastoid Silent Region 2275
Disorder
Corneal Dystrophy, Fuchs Endothelial, 6
First reported 2001
Key publication · disorder Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.Human molecular genetics · 2001
Association Review

In brief

The association between LOC130003630 (ATAC-STARR-Seq Lymphoblastoid Silent Region 2275) and Corneal Dystrophy, Fuchs Endothelial, 6 is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 11
Compounds 0
Trials 0
Publications 0
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

1 source

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

Request access
03
LOC130003630

The gene

1 source summary

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

Request access
04
Corneal Dystrophy, Fuchs Endothelial, 6

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

6 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

1 clinical variant

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

Request access
07
Provenance

References & sources

4 references

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

Request access