ERCC2 and Microphthalmia: Association Evidence

Gene-Disorder Association · Article

Gene

ERCC2

ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit

Disorder

First reported 1950

Key publication · disorder [Some mutations affecting the eyes, collected as examples in the canton of Neuchatel and the Jura Bernois (congenital aniridia, universal albinism, congenital anophthalmos, total achromatopsia, oligophrenia associated with keratoconus, with ectopy of the crystalline, with congenital cataract and with atrophy of the optic nerve)].Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften · 1950

Manually curated

Association Review

In brief

The association between ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit) and Microphthalmia is reported, with clinical genetic testing available.

Sources 1

Clinical variants 0

Symptoms 0

Compounds 0

Trials 0

Publications 0

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

Provenance

Evidence and sources

1 source

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

Request access

ERCC2

The gene

2 source summaries

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

Request access

Microphthalmia

The disorder

7 database identifiers

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

Request access

Provenance

References & sources

3 references

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

Request access