Genopathy
Gene-Disorder Association · Article
Gene
DUP14Q32
Myeloproliferative Neoplasms, Familial, Susceptibility To
Disorder
Chromosome 14q32 Duplication Syndrome, 700-Kb
First reported 1981
Key publication · disorder Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alpha-fetoprotein in the absence of telangiectasia.Cancer genetics and cytogenetics · 1981
Manually curated
Association Review

In brief

The association between DUP14Q32 (Myeloproliferative Neoplasms, Familial, Susceptibility To) and Chromosome 14q32 Duplication Syndrome, 700-Kb is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a susceptibility locus.

Sources 1
Clinical variants 0
Symptoms 7
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.

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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
Chromosome 14q32 Duplication Syndrome, 700-Kb

The disorder

3 database identifiers

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

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04
Phenotype

Clinical features

3 clinical features

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

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05
Provenance

References & sources

2 references

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

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