Cold autoinflammatory syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| F12-ASSOCIATED COLD AUTOINFLAMMATORY SYNDROME | F12 | Unknown | Disgenet Orphanet | ||
| FAMILIAL COLD AUTOINFLAMMATORY SYNDROME | NLRP3 | Unknown | GWAS catalog | ||
| FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | NLRP3 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 | NLRP12 | Causal | CTD ClinVar Disgenet HPO | ||
| RAPGEFL1 | Unknown | — | Disgenet | ||
| FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 | PLCG2 | Causal | CTD ClinVar Disgenet HPO | ||
| FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 | NLRC4 | Causal | ClinVar Disgenet HPO | ||
| FAMILIAL COLD URTICARIA | NLRC4 | Unknown | — | Disgenet | |
| NLRP3 | Unknown | Disgenet Orphanet |