Genopathy
Gene-Disorder Association · Article
Gene
GAREM2
GRB2 Associated Regulator Of MAPK1 Subtype 2
Disorder
Mitochondrial Trifunctional Protein Deficiency 1
First reported 1995
Supporting publications 43
Key publication · gene–disorder Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.The Journal of clinical investigation · 1995
Key publication · disorder Relationships between surface, volume, and thickness of iliac trabecular bone in aging and in osteoporosis. Implications for the microanatomic and cellular mechanisms of bone loss.The Journal of clinical investigation · 1983
Manually curated
Association Review

In brief

The association between GAREM2 (GRB2 Associated Regulator Of MAPK1 Subtype 2) and Mitochondrial Trifunctional Protein Deficiency 1 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 452
Symptoms 48
Compounds 0
Trials 0
Publications 43
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
GAREM2

The gene

1 source summary

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

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04
Mitochondrial Trifunctional Protein Deficiency 1

The disorder

8 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

32 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

452 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

43 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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