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NR5A1

Gene

nuclear receptor subfamily 5 group A member 1

HGNCHGNC:7983EnsemblENSG00000136931NCBI Gene2516
Locus: gene with protein productLocation: 9q33.3

Also known as

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

Also known asFTZF1 · FTZ1 · SF-1 · ELP · AD4BP · hSF-1 · SF1
View full nomenclature history (9)
Previous symbolsFTZF1
Alias symbolsFTZ1, SF-1, ELP, AD4BP, hSF-1, SF1
Previous namesnuclear receptor subfamily 5, group A, member 1
Alias namessteroidogenic factor 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.

Primary Ovarian Insufficiency

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.

Nuclear receptor subfamily 5 group A

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.