Genopathy
Gene-Disorder Association · Article
Gene
LOC107303340
3p25 Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase Alu-Mediated Recombination Region
Disorder
Renal Cell Carcinoma, Nonpapillary
First reported 2004
Supporting publications 24
Key publication · gene–disorder Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.Human mutation · 2004
Key publication · disorder Polycythaemia vera; coexisting with malignant tumours (particularly hypernephroma).Acta medica Scandinavica · 1950
Manually curated
Association Review

In brief

The association between LOC107303340 (3p25 Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase Alu-Mediated Recombination Region) and Renal Cell Carcinoma, Nonpapillary is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 44
Symptoms 2
Compounds 0
Trials 0
Publications 24
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
LOC107303340

The gene

1 source summary

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

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04
Renal Cell Carcinoma, Nonpapillary

The disorder

10 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

1 clinical feature

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

44 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

24 publications

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

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08
Provenance

References & sources

12 references

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

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