Genopathy
Gene-Disorder Association · Article
Gene
AIMP2
Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 2
Disorder
Leukodystrophy, Hypomyelinating, 17
First reported 2002
Supporting publications 1
Key publication · disorder p38 is essential for the assembly and stability of macromolecular tRNA synthetase complex: implications for its physiological significance.Proceedings of the National Academy of Sciences of the United States of America · 2002
Manually curated
Association Review

In brief

The association between AIMP2 (Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 2) and Leukodystrophy, Hypomyelinating, 17 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 3
Clinical variants 9
Symptoms 43
Compounds 0
Trials 0
Publications 1
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
AIMP2

The gene

1 source summary

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

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04
Leukodystrophy, Hypomyelinating, 17

The disorder

7 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

23 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

9 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

1 publication

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

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09
Provenance

References & sources

6 references

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

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