Genopathy
Gene-Disorder Association · Article
Gene
CD247
CD247 Molecule
Disorder
Immunodeficiency 25
First reported 2007
Supporting publications 3
Key publication · gene–disorder T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex.Blood · 2007
Key publication · disorder Familial defect in the surface expression of the T-cell receptor-CD3 complex.The New England journal of medicine · 1988
Manually curated
Association Review

In brief

The association between CD247 (CD247 Molecule) and Immunodeficiency 25 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 3
Clinical variants 148
Symptoms 24
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.

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
CD247

The gene

1 source summary

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

Request access
04
Immunodeficiency 25

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

17 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

148 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

3 publications

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

Request access
09
Provenance

References & sources

8 references

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

Request access