Genopathy
Gene-Disorder Association · Article
Gene
CD3D
CD3 Delta Subunit Of T-Cell Receptor Complex
Disorder
Immunodeficiency 19, Severe Combined
First reported 2003
Supporting publications 14
Key publication · gene–disorder Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency.The New England journal of medicine · 2003
Key publication · disorder A topological model of cell division: structure of the computer program.Bio Systems · 1985
Manually curated
Association Review

In brief

The association between CD3D (CD3 Delta Subunit Of T-Cell Receptor Complex) and Immunodeficiency 19, Severe Combined is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 191
Symptoms 21
Compounds 0
Trials 0
Publications 14
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

2 sources

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

Request access
03
CD3D

The gene

1 source summary

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

Request access
04
Immunodeficiency 19, Severe Combined

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

9 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

191 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

14 publications

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

Request access
09
Provenance

References & sources

12 references

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

Request access