Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Episodic Ataxia, Type 1 KCNA1 disease C1719788 Biomarker 1 orphanet , disgenet
Episodic Ataxia, Type 1 KCNA1 disease C1719788 GeneticVariation 1 orphanet , disgenet
Episodic Ataxia, Type 1 KCNA1 disease C1719788 CausalMutation 1 orphanet , disgenet
Episodic Ataxia, Type 1 CACNA1A disease C1719788 GeneticVariation 0.03 disgenet
Episodic Ataxia, Type 1 TNFRSF12A disease C1719788 Biomarker 0.01 disgenet
Episodic Ataxia, Type 1 PRRT2 disease C1719788 Biomarker 0.01 disgenet
Episodic Ataxia, Type 1 GRK2 disease C1719788 AlteredExpression 0.01 disgenet
Episodic Ataxia, Type 1 HMGB1 disease C1719788 AlteredExpression 0.01 disgenet
Episodic Ataxia, Type 1 KCNQ3 disease C1719788 GeneticVariation 0.01 disgenet
Episodic Ataxia, Type 1 KCNA5 disease C1719788 GeneticVariation 0.01 disgenet
Episodic Ataxia, Type 1 PRKCA disease C1719788 Biomarker 0.01 disgenet
Episodic Ataxia, Type 1 PRKCB disease C1719788 Biomarker 0.01 disgenet
Episodic Ataxia, Type 1 STAT4 disease C1719788 AlteredExpression 0.01 disgenet
Episodic Ataxia, Type 1 KCNA6 disease C1719788 GeneticVariation 0.01 disgenet
Episodic Ataxia, Type 1 SSRP1 disease C1719788 AlteredExpression 0.01 disgenet
Episodic Ataxia, Type 1 GABRG2 disease C1719788 GeneticVariation 0.01 disgenet
Episodic Ataxia, Type 1 KCNQ2 disease C1719788 Biomarker 0.01 disgenet
Episodic Ataxia, Type 1 SCN1A disease C1719788 Biomarker 0.01 disgenet
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