Genopathy
Gene-Disorder Association · Article
Gene
LOC130056931
ATAC-STARR-Seq Lymphoblastoid Silent Region 6376
Disorder
Anemia, Congenital Dyserythropoietic, Type Ia
First reported 1967
Key publication · disorder [Congenital dyserythropoietic anemia in a pair of dizygotic twins].Medizinische Klinik · 1967
Association Review

In brief

The association between LOC130056931 (ATAC-STARR-Seq Lymphoblastoid Silent Region 6376) and Anemia, Congenital Dyserythropoietic, Type Ia is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 19
Symptoms 34
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.

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
LOC130056931

The gene

1 source summary

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

Request access
04
Anemia, Congenital Dyserythropoietic, Type Ia

The disorder

12 database identifiers

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

Request access
05
Phenotype

Clinical features

20 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

19 clinical variants

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

Request access
07
Provenance

References & sources

6 references

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

Request access