Genopathy
Gene-Disorder Association · Article
Gene
NOTCH2NLC
Notch 2 N-Terminal Like C
Disorder
Neuronal Intranuclear Inclusion Disease
First reported 2019
Supporting publications 6
Key publication · gene–disorder Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.Nature genetics · 2019
Key publication · disorder An unusual degenerative disorder of neurons associated with a novel intranuclear hyaline inclusion (neuronal intranuclear hyaline inclusion disease). A clinicopathological study of a case.Journal of neuropathology and experimental neurology · 1980
Manually curated
Association Review

In brief

The association between NOTCH2NLC (Notch 2 N-Terminal Like C) and Neuronal Intranuclear Inclusion Disease is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 3
Clinical variants 0
Symptoms 74
Compounds 0
Trials 0
Publications 6
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

3 sources

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

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03
NOTCH2NLC

The gene

1 source summary

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

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04
Neuronal Intranuclear Inclusion Disease

The disorder

10 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

38 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Literature

Reading

6 publications

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

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08
Provenance

References & sources

12 references

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

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