SETD5

SET domain containing 5

2 disorders 2 causative 3p25.3 gene with protein product

HGNC:25566 Monarch NCBI Gene 55209 ENSG00000168137 UniProt Q9C0A6 OMIM 615743

Aliases: FLJ10707, SETD5A.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
3p- Syndrome	causative germline	mechanism: Altered SETD5-Dependent Transcription; Reduced SETD5 Dosage
SETD5 Haploinsufficiency Syndrome	causative germline	mechanism: SETD5 Haploinsufficiency animal model: Mouse; Zebrafish

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
syndromic complex neurodevelopmental disorder MONDO:0800439	AD	Definitive 2023-07-27	no dismech entry

Mechanism modules · computed from kb/

epigenetic_machinery_neurodevelopmental_dysregulation via SETD5 Haploinsufficiency Syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.