Genopathy
Gene-Disorder Association · Article
Gene
JAK3
Janus Kinase 3
Disorder
Myeloproliferative Neoplasm
First reported 2007
Supporting publications 4
Key publication · gene–disorder Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.British journal of haematology · 2007
Key publication · disorder Biochemical studies in chronic myelocytic leukemia, polycythemia vera and other idiopathic myeloproliferative disorders.Blood · 1952
Manually curated
Association Review

In brief

The association between JAK3 (Janus Kinase 3) and Myeloproliferative Neoplasm is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 2
Compounds 0
Trials 0
Publications 4
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
JAK3

The gene

2 source summaries

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

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04
Myeloproliferative Neoplasm

The disorder

10 database identifiers

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

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05
Literature

Reading

4 publications

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

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06
Provenance

References & sources

9 references

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

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