Genopathy
Gene-Disorder Association · Article
Gene
RPL5
Ribosomal Protein L5
Disorder
Diamond-Blackfan Anemia
First reported 2008
Supporting publications 15
Key publication · gene–disorder Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.American journal of human genetics · 2008
Key publication · disorder Erythrogenesis imperfecta.Archives of disease in childhood · 1950
Manually curated
Association Review

In brief

The association between RPL5 (Ribosomal Protein L5) and Diamond-Blackfan Anemia is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 243
Symptoms 60
Compounds 0
Trials 0
Publications 15
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

3 sources

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

Request access
03
RPL5

The gene

1 source summary

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

Request access
04
Diamond-Blackfan Anemia

The disorder

16 database identifiers

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

Request access
05
Phenotype

Clinical features

59 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

243 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

15 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access