KDM6A

lysine demethylase 6A

4 disorders 4 untyped Xp11.3 gene with protein product

HGNC:12637 Monarch NCBI Gene 7403 ENSG00000147050 UniProt O15550 OMIM 300128

Previous symbols: UTX.

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
47,XYY Syndrome	untyped Dosage-responsive X homolog in cultured XYY cells	mechanism: UTY-Dependent KDM6A Upregulation
Kabuki Syndrome	untyped Causative	mechanism: Chromatin dysregulation from KMT2D and KDM6A haploinsufficiency subtype: KDM6A-related Kabuki syndrome
Klinefelter Syndrome	untyped Risk Factor
Transitional Cell Carcinoma	untyped somatic

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
Kabuki syndrome 2 MONDO:0010465	XL	Definitive 2021-07-26	Kabuki Syndrome untyped

Mechanism modules · computed from kb/

epigenetic_machinery_neurodevelopmental_dysregulation via Kabuki Syndrome

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