Explore GenIA DB
The Genetic Immunology Advisor Database
GENES
GENETIC DISORDERS
CLINICAL PHENOTYPES
PAPERS
VARIANTS
LAB ASSAYS
Clinical- & Research-grade
CELL TYPES
MOLECULES
Our mission
"To catalog and curate all the scientific literature on Inborn Errors of Immunity."
| Diagnosed patients | Populations | Published variants | Curated genes | Inspected papers |
|---|---|---|---|---|
| 2201 (1457 families) | 99 | 1476 | 27 | 263 of 870 |
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Our progress
Genes for which full paper inspection has been performed:
| ARPC1B | ARPC5 | BLK | CBLB | CTNNBL1 | DIAPH1 | DOCK11 | EZR | FOXN1 | GINS1 |
| IL6ST | IRF1 | IRF2BP2 | JAK1 | LYN | MCM4 | NFKB1 | OAS1 | OTULIN | PAX1 |
| PIK3CG | POU2AF1 | SEC61A1 | STAT3 | STAT6 | SYK | TLR8 | TNFSF13 | ZNF341 | |
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Gene prioritization based on phenotypes
