Disease Term Disease ID Gene Symbol References
Familial Cold Autoinflammatory Syndrome 1 C4551895 MME 12928894
PLCG2
NLRC4
NLRP3 12522564, 12032915, 12928894, 24952504, 11992256, 29366613, 15593220, 17284928, 12355493, 11687797, 25217959
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 C3280914 PLCG2 22236196, 29538758, 23000145
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 C4015276 NLRC4 25385754, 27876626
Familial Cold Autoinflammatory Syndrome 2 C2673198 NLRP12 29248470, 24064030, 18230725
NLRC4-related familial cold autoinflammatory syndrome 576349 NLRC4