Genopathy
Gene-Disorder Association · Article
Gene
VDR
Vitamin D Receptor
Disorder
Nephrolithiasis
First reported 1999
Supporting publications 4
Key publication · gene–disorder Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation.Journal of the American Society of Nephrology : JASN · 1999
Key publication · disorder Nephrolithiasis and nephrocalcinosis with calcium oxalate crystals in kidneys and bones.The Journal of pediatrics · 1950
Manually curated
Association Review

In brief

The association between VDR (Vitamin D Receptor) and Nephrolithiasis is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 1
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
VDR

The gene

2 source summaries

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

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04
Nephrolithiasis

The disorder

7 database identifiers

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

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05
Literature

Reading

4 publications

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

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06
Provenance

References & sources

8 references

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

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