Genopathy
Gene-Disorder Association · Article
Gene
NPHS2
NPHS2 Stomatin Family Member, Podocin
Disorder
Genetic Nephrotic Syndrome
First reported 2003
Supporting publications 79
Key publication · gene–disorder Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.Human molecular genetics · 2003
Key publication · disorder Hereditary nephrotic syndrome with progression to renal failure in a mouse model (ICGN strain): clinical study.Nephron · 1994
Manually curated
Association Review

In brief

The association between NPHS2 (NPHS2 Stomatin Family Member, Podocin) and Genetic Nephrotic Syndrome is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 246
Symptoms 0
Compounds 0
Trials 0
Publications 79
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
NPHS2

The gene

1 source summary

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

Request access
04
Genetic Nephrotic Syndrome

The disorder

2 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

246 clinical variants

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

Request access
06
Literature

Reading

79 publications

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

Request access
07
Provenance

References & sources

10 references

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

Request access