Genopathy
Gene-Disorder Association · Article
Gene
LOC113939944
Sharpr-MPRA Regulatory Region 9539
Disorder
Marfan Syndrome
First reported 1999
Supporting publications 35
Key publication · gene–disorder Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.American journal of human genetics · 1999
Key publication · disorder WEEKLY clinicopathological exercises: Marfan's syndrome; aneurysm of ascending aorta, with rupture; idiopathic medionecrosis of aorta; cardiac hypertrophy and dilatation; arachnodactyly.The New England journal of medicine · 1950
Manually curated
Association Review

In brief

The association between LOC113939944 (Sharpr-MPRA Regulatory Region 9539) and Marfan Syndrome is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 109
Symptoms 147
Compounds 0
Trials 0
Publications 35
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
LOC113939944

The gene

1 source summary

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

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04
Marfan Syndrome

The disorder

14 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

105 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

109 clinical variants

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

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07
Literature

Reading

35 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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