Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Neuroacanthocytosis VPS13A disease C0393576 CausalMutation 1 orphanet , disgenet
Neuroacanthocytosis VPS13A disease C0393576 GeneticVariation 1 orphanet , disgenet
Neuroacanthocytosis VPS13A disease C0393576 Biomarker 1 orphanet , disgenet
Neuroacanthocytosis XK disease C0393576 Biomarker 0.3 orphanet , disgenet
Neuroacanthocytosis JPH3 disease C0393576 Biomarker 0.03 disgenet
Neuroacanthocytosis JPH3 disease C0393576 GeneticVariation 0.03 disgenet
Neuroacanthocytosis PANK2 disease C0393576 GeneticVariation 0.03 disgenet
Neuroacanthocytosis PANK2 disease C0393576 Biomarker 0.03 disgenet
Neuroacanthocytosis ORAI1 disease C0393576 AlteredExpression 0.03 disgenet
Neuroacanthocytosis STIM1 disease C0393576 AlteredExpression 0.02 disgenet
Neuroacanthocytosis ACTB disease C0393576 GeneticVariation 0.02 disgenet
Neuroacanthocytosis ACTB disease C0393576 Biomarker 0.02 disgenet
Neuroacanthocytosis ATXN7 disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis SELP disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis ATXN3 disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis TBP disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis VAMP8 disease C0393576 AlteredExpression 0.01 disgenet
Neuroacanthocytosis KCNA1 disease C0393576 GeneticVariation 0.01 disgenet
Neuroacanthocytosis SLC6A2 disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis ELK3 disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis TRAP disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis GCH1 disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis KCNA5 disease C0393576 GeneticVariation 0.01 disgenet
Neuroacanthocytosis EPHB1 disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis CACNA1A disease C0393576 GeneticVariation 0.01 disgenet
Neuroacanthocytosis PIK3CA disease C0393576 PosttranslationalModification 0.01 disgenet
Neuroacanthocytosis PIK3CD disease C0393576 PosttranslationalModification 0.01 disgenet
Neuroacanthocytosis PIK3CG disease C0393576 PosttranslationalModification 0.01 disgenet
Neuroacanthocytosis ESR1 disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis KCNA6 disease C0393576 GeneticVariation 0.01 disgenet
Neuroacanthocytosis CRP disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis ERAL1 disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis TAC1 disease C0393576 Biomarker 0.01 disgenet
Neuroacanthocytosis PIK3CB disease C0393576 PosttranslationalModification 0.01 disgenet
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