Genopathy
Gene-Disorder Association · Article
Gene
NPHS2
NPHS2 Stomatin Family Member, Podocin
Disorder
Nephrotic Syndrome
First reported 2000
Supporting publications 66
Key publication · gene–disorder NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.Nature genetics · 2000
Key publication · disorder The effects of ACTH and cortisone on the nephrotic syndrome.A.M.A. American journal of diseases of children · 1950
Manually curated
Association Review

In brief

The association between NPHS2 (NPHS2 Stomatin Family Member, Podocin) and Nephrotic Syndrome is well established and manually curated, supported by 2 contributing sources, 1 of them expert-curated.

Sources 2
Clinical variants 14
Symptoms 1
Compounds 0
Trials 0
Publications 66
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

2 sources

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

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03
NPHS2

The gene

1 source summary

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

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04
Nephrotic Syndrome

The disorder

9 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

14 clinical variants

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

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06
Literature

Reading

66 publications

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

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07
Provenance

References & sources

12 references

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

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