Genopathy
Gene-Disorder Association · Article
Gene
LOC130009573
ATAC-STARR-Seq Lymphoblastoid Silent Region 5267
Disorder
Mhc Class Ii Deficiency
First reported 1997
Supporting publications 3
Key publication · gene–disorder RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.The EMBO journal · 1997
Key publication · disorder [The bare lymphocyte syndrome. Combined immune deficiency by absence of HLA antigen expression].Presse medicale (Paris, France : 1983) · 1984
Manually curated
Association Review

In brief

The association between LOC130009573 (ATAC-STARR-Seq Lymphoblastoid Silent Region 5267) and Mhc Class Ii Deficiency is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 44
Symptoms 44
Compounds 0
Trials 0
Publications 3
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
LOC130009573

The gene

1 source summary

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

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04
Mhc Class Ii Deficiency

The disorder

12 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

38 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

44 clinical variants

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

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07
Literature

Reading

3 publications

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

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08
Provenance

References & sources

8 references

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

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