Genopathy
Gene-Disorder Association · Article
Gene
KCNE2
Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2
Disorder
Platelet Disorder, Familial, With Associated Myeloid Malignancy
First reported 1985
Supporting publications 5
Key publication · disorder Studies of a familial platelet disorder.Blood · 1985
Association Review

In brief

The association between KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2) and Platelet Disorder, Familial, With Associated Myeloid Malignancy is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 27
Compounds 0
Trials 0
Publications 5
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

1 source

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

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03
KCNE2

The gene

2 source summaries

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

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04
Platelet Disorder, Familial, With Associated Myeloid Malignancy

The disorder

8 database identifiers

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

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05
Phenotype

Clinical features

19 clinical features

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

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06
Literature

Reading

5 publications

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

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07
Provenance

References & sources

11 references

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

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