Genopathy
Gene-Disorder Association · Article
Gene
EPOR
Erythropoietin Receptor
Disorder
Primary Polycythemia
First reported 1994
Supporting publications 9
Key publication · gene–disorder The molecular physiology of erythropoietin and the erythropoietin receptor.Current opinion in hematology · 1994
Key publication · disorder Evaluation of radiophosphorus therapy in primary polycythemia.Journal of the American Medical Association · 1951
Manually curated
Association Review

In brief

The association between EPOR (Erythropoietin Receptor) and Primary Polycythemia is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2
Clinical variants 2
Symptoms 17
Compounds 0
Trials 0
Publications 9
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

2 sources

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

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03
EPOR

The gene

1 source summary

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

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04
Primary Polycythemia

The disorder

11 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

15 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

9 publications

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

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09
Provenance

References & sources

15 references

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

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