Genopathy
Gene-Disorder Association · Article
Gene
CD40LG
CD40 Ligand
Disorder
Cd40 Ligand Deficiency
First reported 1992
Supporting publications 65
Key publication · gene–disorder Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT.Genomics · 1992
Key publication · disorder Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).Human genetics · 1987
Manually curated
Association Review

In brief

The association between CD40LG (CD40 Ligand) and Cd40 Ligand Deficiency is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 260
Symptoms 1
Compounds 0
Trials 0
Publications 65
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
CD40LG

The gene

1 source summary

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

Request access
04
Cd40 Ligand Deficiency

The disorder

12 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

260 clinical variants

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

Request access
06
Literature

Reading

65 publications

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

Request access
07
Provenance

References & sources

13 references

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

Request access