Cold autoinflammatory syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Familial Cold Autoinflammatory Syndrome 1 C4551895 NLRC4 Causal Pathogenic evidence from ClinVar - ClinVar
NLRP3 Causal Pathogenic evidence from ClinVar 11687797, 11992256, 12032915, 12355493, 12522564, 12928894, 15593220, 17284928, 24952504, 25217959, 29366613 ClinVar
MME Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12928894 -
PLCG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 C4015276 NLRC4 Causal Pathogenic evidence from ClinVar 25385754, 27876626 ClinVar
NLRC4-related familial cold autoinflammatory syndrome 576349 NLRC4 Causal Pathogenic evidence from ClinVar - ClinVar
Familial Cold Autoinflammatory Syndrome 2 C2673198 NLRP12 Causal Pathogenic evidence from ClinVar 18230725, 24064030, 29248470 ClinVar
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 C3280914 PLCG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22236196, 23000145, 29538758 -