Genopathy
Gene-Disorder Association · Article
Gene
SNRPN
Small Nuclear Ribonucleoprotein Polypeptide N
Disorder
Prader-Willi Syndrome
First reported 1992
Supporting publications 28
Key publication · gene–disorder Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.Nature genetics · 1992
Key publication · disorder [Chromosomal translocation in a mentally deficient child with cryptorchidism].Acta paediatrica · 1963
Manually curated
Association Review

In brief

The association between SNRPN (Small Nuclear Ribonucleoprotein Polypeptide N) and Prader-Willi Syndrome is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants.

Sources 3
Clinical variants 2
Symptoms 268
Compounds 0
Trials 0
Publications 28
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

3 sources

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

Request access
03
SNRPN

The gene

1 source summary

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

Request access
04
Prader-Willi Syndrome

The disorder

17 database identifiers

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

Request access
05
Phenotype

Clinical features

204 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

1 shared pathway

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

Request access
08
Literature

Reading

28 publications

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

Request access
09
Provenance

References & sources

19 references

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

Request access