Genopathy
Gene-Disorder Association · Article
Gene
MAPK8IP3
Mitogen-Activated Protein Kinase 8 Interacting Protein 3
Disorder
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
First reported 2019
Supporting publications 2
Key publication · disorder De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.American journal of human genetics · 2019
Manually curated
Association Review

In brief

The association between MAPK8IP3 (Mitogen-Activated Protein Kinase 8 Interacting Protein 3) and Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 3
Clinical variants 86
Symptoms 89
Compounds 0
Trials 0
Publications 2
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
MAPK8IP3

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities

The disorder

5 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

60 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

86 clinical variants

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

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07
Literature

Reading

2 publications

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

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08
Provenance

References & sources

7 references

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

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