Genopathy
Gene-Disorder Association · Article
Gene
ETV6
ETS Variant Transcription Factor 6
Disorder
Thrombocytopenia 5
First reported 2011
Supporting publications 15
Key publication · gene–disorder Clinical effect of point mutations in myelodysplastic syndromes.The New England journal of medicine · 2011
Key publication · disorder Heparin-induced thrombocytopenia, thrombosis, and hemorrhage.Surgery · 1979
Manually curated
Association Review

In brief

The association between ETV6 (ETS Variant Transcription Factor 6) and Thrombocytopenia 5 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 32
Symptoms 13
Compounds 0
Trials 0
Publications 15
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

4 sources

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

Request access
03
ETV6

The gene

1 source summary

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

Request access
04
Thrombocytopenia 5

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

8 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

32 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

15 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access