Genopathy
Gene-Disorder Association · Article
Gene
RBM48
RNA Binding Motif Protein 48
Disorder
Peroxisome Biogenesis Disorder 1a
First reported 1964
Key publication · disorder A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS.Bulletin of the Johns Hopkins Hospital · 1964
Manually curated
Association Review

In brief

The association between RBM48 (RNA Binding Motif Protein 48) and Peroxisome Biogenesis Disorder 1a is reported, with clinical genetic testing available.

Sources 1
Clinical variants 1
Symptoms 115
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
RBM48

The gene

1 source summary

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

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04
Peroxisome Biogenesis Disorder 1a

The disorder

11 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

80 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

1 clinical variant

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

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07
Provenance

References & sources

5 references

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

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