Genopathy
Gene-Disorder Association · Article
Gene
EDN3
Endothelin 3
Disorder
Waardenburg Syndrome, Type 4a
First reported 1996
Supporting publications 7
Key publication · gene–disorder A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).Nature genetics · 1996
Key publication · disorder Association of megacolon with two recessive spotting genes in the mouse.The Journal of heredity · 1966
Manually curated
Association Review

In brief

The association between EDN3 (Endothelin 3) and Waardenburg Syndrome, Type 4a is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2
Clinical variants 0
Symptoms 42
Compounds 0
Trials 0
Publications 7
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

2 sources

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

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03
EDN3

The gene

2 source summaries

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

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04
Waardenburg Syndrome, Type 4a

The disorder

12 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

34 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Literature

Reading

7 publications

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

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08
Provenance

References & sources

14 references

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

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