XDH and Nephrolithiasis: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

XDH

Xanthine Dehydrogenase

Disorder

Nephrolithiasis

First reported 2003

Supporting publications 1

Key publication · gene–disorder Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2003

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 XDH (Xanthine Dehydrogenase) and Nephrolithiasis is reported, with clinical genetic testing available.

Sources 1

Clinical variants 0

Symptoms 1

Compounds 0

Trials 0

Publications 1

01

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

02

Provenance

Evidence and sources

1 source

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

03

XDH

The gene

1 source summary

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

04

Nephrolithiasis

The disorder

7 database identifiers

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

05

Literature

Reading

1 publication

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

06

Provenance

References & sources

4 references

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