Genopathy
Gene-Disorder Association · Article
Gene
PAX2
Paired Box 2
Disorder
Renal Hypoplasia, Bilateral
First reported 2001
Supporting publications 4
Key publication · disorder PAX2 gene mutation in a family with isolated renal hypoplasia.Journal of the American Society of Nephrology : JASN · 2001
Manually curated
Association Review

In brief

The association between PAX2 (Paired Box 2) and Renal Hypoplasia, Bilateral is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a susceptibility locus.

Sources 1
Clinical variants 0
Symptoms 31
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
PAX2

The gene

1 source summary

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

Request access
04
Renal Hypoplasia, Bilateral

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

31 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
07
Literature

Reading

4 publications

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

Request access
08
Provenance

References & sources

8 references

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

Request access