KDM5A

lysine demethylase 5A

2 disorders 1 somatic driver 1 causative 12p13.33 gene with protein product

HGNC:9886 Monarch NCBI Gene 5927 ENSG00000073614 UniProt P29375 OMIM 180202

Previous symbols: RBBP2, JARID1A.

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
Acute Megakaryoblastic Leukemia	somatic driver somatic	mechanism: NUP98::KDM5A Sustains Progenitor Capacity and Maturation Arrest animal model: mouse scoped to subtype: NUP98::KDM5A-Positive AMKL
El Hayek-Chahrour neurodevelopmental disorder	causative	mechanism: KDM5A Loss of Function and Reduced H3K4 Demethylase Dosage

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
congenital heart disease MONDO:0005453	AD	Limited 2024-01-08	Congenital Heart Disease not named

Mechanism modules · computed from kb/

epigenetic_machinery_neurodevelopmental_dysregulation via El Hayek-Chahrour neurodevelopmental disorder

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