Genopathy
Gene-Disorder Association · Article
Gene
MED13L
Mediator Complex Subunit 13L
Disorder
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
First reported 2003
Supporting publications 19
Key publication · disorder Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).Circulation · 2003
Manually curated
Association Review

In brief

The association between MED13L (Mediator Complex Subunit 13L) and Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 257
Symptoms 93
Compounds 0
Trials 0
Publications 19
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

4 sources

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

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03
MED13L

The gene

1 source summary

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

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04
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects

The disorder

9 database identifiers

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

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05
Phenotype

Clinical features

76 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

257 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

19 publications

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

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09
Provenance

References & sources

15 references

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

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