Genopathy
Gene-Disorder Association · Article
Gene
PKD1
Polycystin 1, Transient Receptor Potential Channel Interacting
First reported 1950
Supporting publications 16
Association Review

In brief

The association between PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting) and Tuberous Sclerosis is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 21
Symptoms 10
Compounds 0
Trials 0
Publications 16
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
PKD1

The gene

1 source summary

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

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04
Tuberous Sclerosis

The disorder

8 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

21 clinical variants

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

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06
Literature

Reading

16 publications

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

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07
Provenance

References & sources

11 references

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

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