Genopathy
Gene-Disorder Association · Article
Gene
LOC107126288
NUP98-HOXA13 Recombination Region
Disorder
Hand-Foot-Genital Syndrome
First reported 1969
Supporting publications 7
Key publication · disorder Hand-foot-uterus syndrome.Lancet (London, England) · 1969
Association Review

In brief

The association between LOC107126288 (NUP98-HOXA13 Recombination Region) and Hand-Foot-Genital Syndrome is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 58
Symptoms 62
Compounds 0
Trials 0
Publications 7
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
LOC107126288

The gene

1 source summary

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

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04
Hand-Foot-Genital Syndrome

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

40 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

58 clinical variants

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

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07
Literature

Reading

7 publications

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

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08
Provenance

References & sources

13 references

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

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