Genopathy
Gene-Disorder Association · Article
Gene
NSD1
Nuclear Receptor Binding SET Domain Protein 1
Disorder
Amelogenesis Imperfecta, Type Ie
First reported 1952
Key publication · disorder [Hypoplasia of dental enamel with incomplete dominant sex linked heredity].Zeitschrift fur menschliche Vererbungs- und Konstitutionslehre · 1952
Manually curated
Association Review

In brief

The association between NSD1 (Nuclear Receptor Binding SET Domain Protein 1) and Amelogenesis Imperfecta, Type Ie is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 16
Compounds 0
Trials 0
Publications 0
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
Amelogenesis Imperfecta, Type Ie

The disorder

15 database identifiers

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

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05
Phenotype

Clinical features

4 clinical features

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

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06
Provenance

References & sources

4 references

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

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