Genopathy
Gene-Disorder Association · Article
Gene
ELN
Elastin
Disorder
Ehlers-Danlos Syndrome
First reported 1995
Supporting publications 1
Key publication · gene–disorder Skin elastic fibres: regulation of human elastin promoter activity in transgenic mice.Ciba Foundation symposium · 1995
Key publication · disorder Ehlers-Danlos syndrome associated with the tetralogy of Fallot.Archives of dermatology and syphilology · 1950
Manually curated
Association Review

In brief

The association between ELN (Elastin) and Ehlers-Danlos Syndrome is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 3
Compounds 0
Trials 0
Publications 1
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

1 source

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

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03
ELN

The gene

1 source summary

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

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04
Ehlers-Danlos Syndrome

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
Literature

Reading

1 publication

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

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06
Provenance

References & sources

5 references

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

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