Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Episodic Ataxia KCNA1 disease C1720189 AlteredExpression 0.5 disgenet
Episodic Ataxia KCNA1 disease C1720189 GeneticVariation 0.5 disgenet
Episodic Ataxia KCNA1 disease C1720189 Biomarker 0.5 disgenet
Episodic Ataxia SLC1A3 disease C1720189 Biomarker 0.44 disgenet
Episodic Ataxia SLC1A3 disease C1720189 GeneticVariation 0.44 disgenet
Episodic Ataxia CACNB4 disease C1720189 Biomarker 0.41 disgenet
Episodic Ataxia UBR4 disease C1720189 Biomarker 0.32 disgenet
Episodic Ataxia UBR4 disease C1720189 GeneticVariation 0.32 disgenet
Episodic Ataxia CACNA1A disease C1720189 Biomarker 0.2 disgenet
Episodic Ataxia CACNA1A disease C1720189 GeneticVariation 0.2 disgenet
Episodic Ataxia CACNA1A disease C1720189 AlteredExpression 0.2 disgenet
Episodic Ataxia CACNA1A disease C1720189 CausalMutation 0.2 disgenet
Episodic Ataxia SCN2A disease C1720189 CausalMutation 0.14 disgenet
Episodic Ataxia SCN2A disease C1720189 Biomarker 0.14 disgenet
Episodic Ataxia SCN2A disease C1720189 GeneticVariation 0.14 disgenet
Episodic Ataxia ATP1A2 disease C1720189 Biomarker 0.11 disgenet
Episodic Ataxia ATP1A2 disease C1720189 GeneticVariation 0.11 disgenet
Episodic Ataxia SLC2A1 disease C1720189 Biomarker 0.11 orphanet , disgenet
Episodic Ataxia NFIX disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia PIGP disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia GNAO1 disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia CASK disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia STXBP1 disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia PNKP disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia NEUROD2 disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia SIK1 disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia OTC disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia ARX disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia SLC6A19 disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia TRIM8 disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia PIGQ disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia SLC25A22 disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia ATP1A3 disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia CDKL5 disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia PDHA1 disease C1720189 Biomarker 0.1 disgenet
Episodic Ataxia PRRT2 disease C1720189 GeneticVariation 0.05 disgenet
Episodic Ataxia FGF14 disease C1720189 GeneticVariation 0.02 disgenet
Episodic Ataxia DARS2 disease C1720189 GeneticVariation 0.01 disgenet
Episodic Ataxia ATXN8OS disease C1720189 Biomarker 0.01 disgenet
Episodic Ataxia CD69 disease C1720189 GeneticVariation 0.01 disgenet
Episodic Ataxia TWNK disease C1720189 Biomarker 0.01 disgenet
Episodic Ataxia KCNA2 disease C1720189 GeneticVariation 0.01 disgenet
Episodic Ataxia PRKCG disease C1720189 GeneticVariation 0.01 disgenet
Episodic Ataxia PNKD disease C1720189 GeneticVariation 0.01 disgenet
Episodic Ataxia PPP2R2B disease C1720189 Biomarker 0.01 disgenet
Episodic Ataxia TRPC3 disease C1720189 GeneticVariation 0.01 disgenet
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