Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Familial paroxysmal dystonia PRRT2 disease C1868682 GeneticVariation 0.5 orphanet , disgenet
Familial paroxysmal dystonia PRRT2 disease C1868682 GermlineCausalMutation 0.5 orphanet , disgenet
Familial paroxysmal dystonia PRRT2 disease C1868682 Biomarker 0.5 orphanet , disgenet
Familial paroxysmal dystonia PRRT2 disease C1868682 CausalMutation 0.5 orphanet , disgenet
Familial paroxysmal dystonia KCNA1 disease C1868682 GermlineCausalMutation 0.3 orphanet , disgenet
Familial paroxysmal dystonia PRKD1 disease C1868682 GeneticVariation 0.03 disgenet
Familial paroxysmal dystonia PRKD1 disease C1868682 Biomarker 0.03 disgenet
Familial paroxysmal dystonia NKX2-1 disease C1868682 Biomarker 0.02 disgenet
Familial paroxysmal dystonia EKD2 disease C1868682 GeneticVariation 0.02 disgenet
Familial paroxysmal dystonia NKX2-1 disease C1868682 GeneticVariation 0.02 disgenet
Familial paroxysmal dystonia CACNA1A disease C1868682 GeneticVariation 0.01 disgenet
Familial paroxysmal dystonia SLC2A1 disease C1868682 GeneticVariation 0.01 disgenet
Familial paroxysmal dystonia KCNA5 disease C1868682 GeneticVariation 0.01 disgenet
Familial paroxysmal dystonia COMT disease C1868682 GeneticVariation 0.01 disgenet
Familial paroxysmal dystonia STX1B disease C1868682 Biomarker 0.01 disgenet
Familial paroxysmal dystonia KCNA6 disease C1868682 GeneticVariation 0.01 disgenet
Familial paroxysmal dystonia PLEK disease C1868682 Biomarker 0.01 disgenet
Familial paroxysmal dystonia CHRNA4 disease C1868682 GeneticVariation 0.01 disgenet
Familial paroxysmal dystonia SGCE disease C1868682 Biomarker 0.01 disgenet
Familial paroxysmal dystonia PNKD NA C1868682 NA NA orphanet
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