Genopathy
Gene-Disorder Association · Article
Gene
EFEMP1
EGF-Like Fibulin Extracellular Matrix Protein 1
Disorder
Glaucoma 1, Open Angle, H
First reported 2015
Supporting publications 1
Key publication · gene–disorder Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.PloS one · 2015
Key publication · disorder A new locus (GLC1H) for adult-onset primary open-angle glaucoma maps to the 2p15-p16 region.Archives of ophthalmology (Chicago, Ill. : 1960) · 2007
Manually curated
Association Review

In brief

The association between EFEMP1 (EGF-Like Fibulin Extracellular Matrix Protein 1) and Glaucoma 1, Open Angle, H is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 4
Symptoms 10
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.

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
EFEMP1

The gene

1 source summary

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

Request access
04
Glaucoma 1, Open Angle, H

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

6 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

4 clinical variants

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

Request access
07
Population genetics

GWAS signals

1 GWAS phenotype

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

Request access
08
Mechanism overlap

Shared mechanisms

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

Request access
09
Literature

Reading

1 publication

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

Request access
10
Provenance

References & sources

7 references

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

Request access