Association Review
In brief The association between LIG4 (DNA Ligase 4) and Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation is reported, with clinical genetic testing available.
Sources
1
Clinical variants
84
Symptoms
59
Compounds
0
Trials
0
Publications
0
Contents
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 2 source summaries
A gene summary alongside the source descriptions it was distilled from.
Request access 04
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
The disorder 15 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
Request access 05
Phenotype
Clinical features 48 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 84 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
Provenance
References & sources 9 references
Every source and publication cited across this dossier, as one numbered reference list.
Request access 
