Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Paroxysmal Extreme Pain Disorder SCN9A disease C1833661 CausalMutation 0.8 orphanet , disgenet
Paroxysmal Extreme Pain Disorder SCN9A disease C1833661 GermlineCausalMutation 0.8 orphanet , disgenet
Paroxysmal Extreme Pain Disorder SCN9A disease C1833661 GeneticVariation 0.8 orphanet , disgenet
Paroxysmal Extreme Pain Disorder SCN9A disease C1833661 Biomarker 0.8 orphanet , disgenet
Paroxysmal Extreme Pain Disorder SCN10A disease C1833661 GeneticVariation 0.3 orphanet , disgenet
Paroxysmal Extreme Pain Disorder SCN11A disease C1833661 GeneticVariation 0.3 orphanet , disgenet
Paroxysmal Extreme Pain Disorder SCN1A-AS1 disease C1833661 CausalMutation 0.1 disgenet
Paroxysmal Extreme Pain Disorder MCF2L2 disease C1833661 GeneticVariation 0.01 disgenet
Paroxysmal Extreme Pain Disorder SCN1A disease C1833661 Biomarker 0.01 disgenet
Paroxysmal Extreme Pain Disorder CPSF4 disease C1833661 Biomarker 0.01 disgenet
Paroxysmal Extreme Pain Disorder KCNQ2 disease C1833661 Biomarker 0.01 disgenet
Paroxysmal Extreme Pain Disorder IDS disease C1833661 GeneticVariation 0.01 disgenet
Paroxysmal Extreme Pain Disorder SCN1B disease C1833661 Biomarker 0.01 disgenet
Paroxysmal Extreme Pain Disorder SCN2A disease C1833661 Biomarker 0.01 disgenet
Paroxysmal Extreme Pain Disorder KCNQ3 disease C1833661 Biomarker 0.01 disgenet
Paroxysmal Extreme Pain Disorder CTSC disease C1833661 AlteredExpression 0.01 disgenet
Paroxysmal Extreme Pain Disorder PEPD NA C1833661 NA NA orphanet
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