EZH2

enhancer of zeste 2 polycomb repressive complex 2 subunit

7 disorders 3 no genetic record 3 untyped 1 causative 7q36.1 gene with protein product

HGNC:3527 Monarch NCBI Gene 2146 ENSG00000106462 UniProt Q15910 OMIM 601573

Aliases: EZH1, ENX-1, KMT6, KMT6A.

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
Weaver Syndrome	causative germline unknown	mechanism: Reduced EZH2/PRC2 Histone Methyltransferase Activity animal model: Mouse
Follicular Lymphoma	untyped Recurrent Somatic Mutation
Premenstrual Dysphoric Disorder	untyped Risk Factor
Primary Myelofibrosis	untyped Somatic Loss-of-Function Mutations
Anaplastic Large Cell Lymphoma	no genetic record	mechanism: EZH2-Associated Epigenetic Program in Type II ALK-Negative ALCL
Ewing Sarcoma	no genetic record	mechanism: EZH2-Associated Differentiation Repression
Primary_Tonsillar_Lymphoma	no genetic record	mechanism: Malignant B-cell Proliferation (Germinal Center Type)

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
Weaver syndrome MONDO:0010193	AD	Definitive 2022-08-03	Weaver Syndrome causative

Mechanism modules · computed from kb/

epigenetic_machinery_neurodevelopmental_dysregulation via Weaver Syndrome

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