Genopathy
Gene-Disorder Association · Article
Gene
MED12
Mediator Complex Subunit 12
Disorder
Ohdo Syndrome, X-Linked
First reported 2013
Supporting publications 12
Key publication · gene–disorder Mutations in MED12 cause X-linked Ohdo syndrome.American journal of human genetics · 2013
Key publication · disorder Two additional cases of the Ohdo blepharophimosis syndrome.American journal of medical genetics · 1993
Manually curated
Association Review

In brief

The association between MED12 (Mediator Complex Subunit 12) and Ohdo Syndrome, X-Linked is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 64
Symptoms 76
Compounds 0
Trials 0
Publications 12
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
MED12

The gene

1 source summary

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

Request access
04
Ohdo Syndrome, X-Linked

The disorder

8 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

64 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

12 publications

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

Request access
09
Provenance

References & sources

13 references

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

Request access