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BBS12

Gene

Bardet-Biedl syndrome 12

HGNCHGNC:26648EnsemblENSG00000181004NCBI Gene166379
Locus: gene with protein productLocation: 4q27

Also known as

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

Also known asC4orf24 · FLJ35630 · FLJ41559
View full nomenclature history (4)
Previous symbolsC4orf24
Alias symbolsFLJ35630, FLJ41559
Previous nameschromosome 4 open reading frame 24

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.

Bardet-Biedl Syndrome
Obesity due to melanocortin 4 receptor deficiency
Obesity disorder
Eye Diseases

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.

Chaperonins

Provenance

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