Genopathy
Gene-Disorder Association · Article
Gene
EZH2
Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit
Disorder
Thrombocythemia 1
First reported 1954
Key publication · disorder [Thrombotic disease in essential thrombocythemia].Schweizerische medizinische Wochenschrift · 1954
Manually curated
Association Review

In brief

The association between EZH2 (Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit) and Thrombocythemia 1 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 10
Compounds 0
Trials 0
Publications 0
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

1 source

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
Thrombocythemia 1

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

5 clinical features

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

Request access
06
Provenance

References & sources

5 references

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

Request access