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PUS7

Gene

pseudouridine synthase 7

HGNCHGNC:26033EnsemblENSG00000091127NCBI Gene54517
Locus: gene with protein productLocation: 7q22.3

Also known as

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

Also known asFLJ20485
View full nomenclature history (4)
Alias symbolsFLJ20485
Previous namespseudouridylate synthase 7 homolog (S. cerevisiae), pseudouridylate synthase 7 (putative), pseudouridylate synthase 7

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.

Genetic Diseases, Inborn
Microcephaly
Complex neurodevelopmental disorder
Child Development Disorders, Pervasive

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.

Pseudouridine synthases

Provenance

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