Genopathy
Gene-Disorder Association · Article
Gene
RACGAP1
Rac GTPase Activating Protein 1
Disorder
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
First reported 2022
Supporting publications 1
Key publication · disorder RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease.Blood · 2022
Manually curated
Association Review

In brief

The association between RACGAP1 (Rac GTPase Activating Protein 1) and Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 2
Symptoms 10
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

4 sources

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

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03
RACGAP1

The gene

1 source summary

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

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04
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive

The disorder

6 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

2 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

2 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

7 references

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

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