RHBDF1

Gene

rhomboid 5 homolog 1

HGNCHGNC:20561 EnsemblENSG00000007384 NCBI Gene64285

Locus: gene with protein productLocation: 16p13.3

Also known as

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

Also known asC16orf8 · EGFR-RS · FLJ2235 · Dist1 · iRhom1

View full nomenclature history (8)

Previous symbolsC16orf8

Alias symbolsEGFR-RS, FLJ2235, Dist1, iRhom1

Previous nameschromosome 16 open reading frame 8, rhomboid family 1 (Drosophila), rhomboid 5 homolog 1 (Drosophila)

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.

Neurodegenerative Diseases

Wolff-Parkinson's-White syndrome

Cardiomyopathy, Dilated

Breast Neoplasms

Neoplasms

Genetic developmental and epileptic encephalopathy

Pancreatic Neoplasms

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.

Rhomboid family

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.