Genopathy
Gene-Disorder Association · Article
Gene
UPF1
UPF1 RNA Helicase And ATPase
Disorder
Right Atrial Isomerism
First reported 2004
Supporting publications 4
Key publication · gene–disorder Right atrial isomerism in four siblings.Pediatric cardiology · 2004
Key publication · disorder Congenital absence of the spleen; syndrome with atrioventricularis and situs inversus; case reports and review of the literature.Pediatrics · 1952
Manually curated
Association Review

In brief

The association between UPF1 (UPF1 RNA Helicase And ATPase) and Right Atrial Isomerism is a manually-curated gene–disease association, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 36
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
UPF1

The gene

1 source summary

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

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04
Right Atrial Isomerism

The disorder

16 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

20 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

1 clinical variant

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

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07
Literature

Reading

4 publications

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

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08
Provenance

References & sources

9 references

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

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