Genopathy
Gene-Disorder Association · Article
Gene
EZH2
Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit
Disorder
Weaver Syndrome
First reported 2011
Supporting publications 11
Key publication · gene–disorder Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.Oncotarget · 2011
Key publication · disorder Weaver syndrome in Brown Swiss cattle: clinical signs & pathology.Veterinary medicine, small animal clinician : VM, SAC · 1973
Manually curated
Association Review

In brief

The association between EZH2 (Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit) and Weaver Syndrome is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 484
Symptoms 140
Compounds 0
Trials 0
Publications 11
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

5 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
EZH2

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Weaver Syndrome

The disorder

16 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

104 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

484 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

11 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

18 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access