Genopathy
Gene-Disorder Association · Article
Gene
NSD1
Nuclear Receptor Binding SET Domain Protein 1
Disorder
Sotos Syndrome 1
First reported 1964
Supporting publications 50
Key publication · disorder CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER.The New England journal of medicine · 1964
Manually curated
Association Review

In brief

The association between NSD1 (Nuclear Receptor Binding SET Domain Protein 1) and Sotos Syndrome 1 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 857
Symptoms 1
Compounds 0
Trials 0
Publications 50
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

1 source

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

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03
NSD1

The gene

1 source summary

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

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04
Sotos Syndrome 1

The disorder

3 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

857 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

50 publications

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

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07
Provenance

References & sources

11 references

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

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