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EFEMP1

Gene

EGF-like fibulin extracellular matrix protein 1

HGNCHGNC:3218EnsemblENSG00000115380NCBI Gene2202
Locus: gene with protein productLocation: 2p16.1

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asDHRD · FBNL · S1-5 · FBLN3 · MTLV
View full nomenclature history (10)
Previous symbolsDHRD, FBNL
Alias symbolsS1-5, FBLN3, MTLV
Previous namesEGF containing fibulin extracellular matrix protein 1, fibrillin-like, EGF-containing fibulin-like extracellular matrix protein 1, EGF containing fibulin like extracellular matrix protein 1
Alias namesfibulin 3

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Glaucoma, Open-Angle
Myopia

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Fibulins

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2025-09-04.
Open TargetsGene–disease associations from the Open Targets Platform.