Genopathy
Gene-Disorder Association · Article
Gene
MED13L
Mediator Complex Subunit 13L
Disorder
Transposition Of The Great Arteries, Dextro-Looped
First reported 1950
Supporting publications 15
Key publication · disorder Angiocardiography; anatomo-roentgenological forms of the transposition of the transposition of the great vessels.The American journal of roentgenology and radium therapy · 1950
Manually curated
Association Review

In brief

The association between MED13L (Mediator Complex Subunit 13L) and Transposition Of The Great Arteries, Dextro-Looped is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 834
Symptoms 35
Compounds 0
Trials 0
Publications 15
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

2 sources

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

Request access
03
MED13L

The gene

1 source summary

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

Request access
04
Transposition Of The Great Arteries, Dextro-Looped

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

32 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

834 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

15 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access