Genopathy
Gene-Disorder Association · Article
Gene
TRPV4
Transient Receptor Potential Cation Channel Subfamily V Member 4
Disorder
Sodium Serum Level Quantitative Trait Locus 1
First reported 2007
Key publication · disorder Transcriptional and epigenetic regulation of the integrin collagen receptor locus ITGA1-PELO-ITGA2.Biochimica et biophysica acta · 2007
Manually curated
Association Review

In brief

The association between TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4) and Sodium Serum Level Quantitative Trait Locus 1 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 16
Symptoms 0
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

3 sources

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

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03
TRPV4

The gene

2 source summaries

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

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04
Sodium Serum Level Quantitative Trait Locus 1

The disorder

2 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

16 clinical variants

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

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06
Provenance

References & sources

5 references

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

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