EFHC1

Gene

EF-hand domain containing 1

HGNCHGNC:16406 EnsemblENSG00000096093 NCBI Gene114327

Locus: gene with protein productLocation: 6p12.2

Also known as

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

Also known asEJM1 · EJM · FLJ10466 · RIB72 · POC9

View full nomenclature history (8)

Previous symbolsEJM1, EJM

Alias symbolsFLJ10466, RIB72, POC9

Previous namesepilepsy, juvenile myoclonic 1, EF-hand domain (C-terminal) containing 1

Alias namesmyoclonin-1

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.

Juvenile myoclonic epilepsy

Pulmonary Disease, Chronic Obstructive

Lower respiratory tract disorder

Placental abruption

Ovarian dysfunction

Essential Tremor

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.

EF-hand domain containing

Provenance

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

Open TargetsGene–disease associations from the Open Targets Platform.