Genopathy
Gene-Disorder Association · Article
Gene
RBM20
RNA Binding Motif Protein 20
Disorder
Cardiomyopathy, Dilated, 1b
First reported 2009
Supporting publications 5
Key publication · gene–disorder Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.Journal of the American College of Cardiology · 2009
Key publication · disorder Different colony-stimulating factors are detected by the "interleukin-3"-dependent cell lines FDC-Pl and 32D cl-23.Blood · 1984
Manually curated
Association Review

In brief

The association between RBM20 (RNA Binding Motif Protein 20) and Cardiomyopathy, Dilated, 1b is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 6
Symptoms 6
Compounds 0
Trials 0
Publications 5
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
RBM20

The gene

1 source summary

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

Request access
04
Cardiomyopathy, Dilated, 1b

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

5 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

6 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

5 publications

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

Request access
09
Provenance

References & sources

9 references

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

Request access