PKD1L1 and Visceral Heterotaxy 5: Association Evidence

In brief

The association between PKD1L1 (Polycystin 1 Like 1, Transient Receptor Potential Channel Interacting) and Visceral Heterotaxy 5 is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

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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Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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PKD1L1

The gene

1 source summary

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

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Visceral Heterotaxy 5

The disorder

9 database identifiers

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

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ClinVar and variant evidence

Genetic basis

4 clinical variants

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

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Literature

Reading

4 publications

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

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Provenance

References & sources

7 references

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

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