Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Episodic ataxia type 2 CACNA1A disease C1720416 CausalMutation 1 orphanet , disgenet
Episodic ataxia type 2 CACNA1A disease C1720416 Biomarker 1 orphanet , disgenet
Episodic ataxia type 2 CACNA1A disease C1720416 GeneticVariation 1 orphanet , disgenet
Episodic ataxia type 2 KCNA1 disease C1720416 GeneticVariation 0.02 disgenet
Episodic ataxia type 2 RNF138 disease C1720416 AlteredExpression 0.01 disgenet
Episodic ataxia type 2 ATXN3 disease C1720416 Biomarker 0.01 disgenet
Episodic ataxia type 2 PRKN disease C1720416 Biomarker 0.01 disgenet
Episodic ataxia type 2 ATP1A2 disease C1720416 GeneticVariation 0.01 disgenet
Episodic ataxia type 2 CBLL2 disease C1720416 Biomarker 0.01 disgenet
Episodic ataxia type 2 PRRT2 disease C1720416 Biomarker 0.01 disgenet
Episodic ataxia type 2 ATXN1 disease C1720416 Biomarker 0.01 disgenet
Episodic ataxia type 2 MUL1 disease C1720416 Biomarker 0.01 disgenet
Episodic ataxia type 2 CASP3 disease C1720416 Biomarker 0.01 disgenet
Episodic ataxia type 2 SCN1A disease C1720416 GeneticVariation 0.01 disgenet
Episodic ataxia type 2 PRKCSH disease C1720416 Biomarker 0.01 disgenet
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