Severe combined immunodeficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SEVERE COMBINED IMMUNODEFICIENCY | ADA | Unknown | — | Disgenet | |
| AK2 | Unknown | CTD Disgenet | |||
| CAMK4 | Unknown | — | Disgenet | ||
| CD247 | Unknown | — | Disgenet | ||
| CD3D | Unknown | CTD Disgenet | |||
| CD3E | Unknown | CTD Disgenet | |||
| CD3G | Unknown | — | Disgenet | ||
| CORO1A | Unknown | — | Disgenet | ||
| DCLRE1C | Unknown | — | Disgenet | ||
| DOCK8 | Unknown | — | Disgenet | ||
| DOP1A | Unknown | — | Disgenet | ||
| FOXN1 | Unknown | — | Disgenet | ||
| IKBKB | Unknown | — | Disgenet | ||
| IL2RG | Unknown | — | Disgenet | ||
| IL7R | Unknown | — | Disgenet | ||
| INPP5D | Unknown | — | Disgenet | ||
| JAK3 | Unknown | CTD Disgenet | |||
| KDM2B | Unknown | — | Disgenet | ||
| LCK | Unknown | — | Disgenet | ||
| LIG4 | Unknown | — | Disgenet | ||
| MALT1 | Unknown | — | Disgenet | ||
| MCFD2 | Unknown | — | Disgenet | ||
| MTHFD1 | Unknown | — | Disgenet | ||
| NHEJ1 | Unknown | — | Disgenet | ||
| NUDCD3 | Unknown | ClinGen GWAS catalog | |||
| PGM3 | Unknown | — | Disgenet | ||
| PKIG | Unknown | — | Disgenet | ||
| PNP | Unknown | — | Disgenet | ||
| PTPRC | Unknown | — | Disgenet | ||
| RAG1 | Unknown | — | Disgenet | ||
| RAG2 | Unknown | — | Disgenet | ||
| RFX5 | Unknown | — | Disgenet | ||
| RFXANK | Unknown | — | Disgenet | ||
| STK4 | Unknown | — | Disgenet | ||
| TAPBP | Unknown | — | Disgenet | ||
| TFRC | Unknown | CTD Disgenet | |||
| TTC7A | Unknown | — | Disgenet | ||
| VDAC2 | Unknown | — | Disgenet | ||
| ZAP70 | Unknown | CTD Disgenet | |||
| ZBTB25 | Unknown | — | Disgenet | ||
| SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY | ADA | Unknown | — | CTD Disgenet Orphanet | |
| SEVERE COMBINED IMMUNODEFICIENCY DUE TO CARD11 DEFICIENCY | CARD11 | Causal | ClinGen ClinVar GWAS catalog | ||
| SEVERE COMBINED IMMUNODEFICIENCY DUE TO CARMIL2 DEFICIENCY | CARMIL2 | Causal | ClinGen ClinVar | ||
| SEVERE COMBINED IMMUNODEFICIENCY DUE TO CD70 DEFICIENCY | CD70 | Causal | ClinGen ClinVar GenCC | ||
| SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY | RAG1 | Unknown | Orphanet | ||
| RAG2 | Unknown | Orphanet | |||
| SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RECOMBINATION-ACTIVATING GENE 1 AND/OR RECOMBINATION-ACTIVATING GENE 2 DEFICIENCY | RAG1 | Unknown | — | Disgenet | |
| RAG2 | Unknown | — | Disgenet | ||
| SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY | CORO1A | Causal | ClinGen ClinVar Disgenet GWAS catalog Orphanet | ||
| LRBA | Causal | — | Disgenet |