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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
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
Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +49 more
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 NLRC4 Causal ClinVar, Disgenet, HPO
FAMILIAL COLD URTICARIA NLRC4 Unknown — Disgenet
NLRP3 Unknown Disgenet, Orphanet
All6 Causal4 Unknown4