Genopathy
Gene-Disorder Association · Article
Gene
EFEMP1
EGF-Like Fibulin Extracellular Matrix Protein 1
Disorder
Inguinal Hernia
First reported 1950
Key publication · disorder The treatment of inguinal hernia in infants and children.Annals of surgery · 1950
Association Review

In brief

The association between EFEMP1 (EGF-Like Fibulin Extracellular Matrix Protein 1) and Inguinal Hernia is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
EFEMP1

The gene

1 source summary

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

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04
Inguinal Hernia

The disorder

18 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

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06
Population genetics

GWAS signals

2 GWAS phenotypes

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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07
Provenance

References & sources

3 references

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

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