Immunodeficiency
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION | SYK | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| IMMUNODEFICIENCY 84 | IKZF3 | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| IMMUNODEFICIENCY 85 AND AUTOIMMUNITY | TOM1 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| IMMUNODEFICIENCY 86 | SPPL2A | Causal | ClinVar, Disgenet, HPO | |||
| IMMUNODEFICIENCY 87 AND AUTOIMMUNITY | DEF6 | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| IMMUNODEFICIENCY 88 | TBX21 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| IMMUNODEFICIENCY 89 AND AUTOIMMUNITY | CARD10 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION | ZNFX1 | Causal | ClinVar, Disgenet, HPO, Orphanet | |||
| IMMUNODEFICIENCY 92 | REL | Causal | ClinGen, ClinVar, Disgenet, HPO, Orphanet | |||
| IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY | FNIP1 | Causal | ClinVar, Disgenet, HPO, Orphanet | |||
| IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES | IL6ST | Causal | — | ClinVar, Disgenet, HPO | ||
| IMMUNODEFICIENCY 95 | IFIH1 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| IMMUNODEFICIENCY 96 | LIG1 | Causal | ClinGen, ClinVar, Disgenet, HPO | |||
| IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION | PIK3CG | Causal | — | ClinGen, ClinVar, Disgenet, GenCC, HPO | ||
| IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED | TLR8 | Causal | ClinVar, Disgenet, GenCC, HPO |