Genopathy
Gene-Disorder Association · Article
Gene
FRA16E
Fragile Site, Distamycin A Type, Rare, Fra(16)(P12.1)
Disorder
Chromosome 16p12.1 Deletion Syndrome, 520-Kb
First reported 2010
Key publication · disorder A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.Nature genetics · 2010
Manually curated
Association Review

In brief

The association between FRA16E (Fragile Site, Distamycin A Type, Rare, Fra(16)(P12.1)) and Chromosome 16p12.1 Deletion Syndrome, 520-Kb is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 9
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
FRA16E

The gene

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

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04
Chromosome 16p12.1 Deletion Syndrome, 520-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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05
Phenotype

Clinical features

9 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

2 references

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

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