Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Manifestation, Neurologic ATP7A phenotype C0027854 Biomarker 0.3 disgenet
Manifestation, Neurologic GDNF phenotype C0027854 Therapeutic 0.3 disgenet
Manifestation, Neurologic PITX3 phenotype C0027854 Biomarker 0.3 disgenet
Manifestation, Neurologic ALDH5A1 phenotype C0027854 Biomarker 0.3 disgenet
Manifestation, Neurologic CNDP1 phenotype C0027854 Biomarker 0.3 disgenet
Manifestation, Neurologic TP73 phenotype C0027854 Biomarker 0.2 disgenet
Manifestation, Neurologic HPRT1 phenotype C0027854 GeneticVariation 0.01 disgenet
Manifestation, Neurologic TSC1 phenotype C0027854 AlteredExpression 0.01 disgenet
Manifestation, Neurologic KCNA2 phenotype C0027854 Biomarker 0.01 disgenet
Manifestation, Neurologic PRODH phenotype C0027854 GeneticVariation 0.01 disgenet
Manifestation, Neurologic KCNA1 phenotype C0027854 Biomarker 0.01 disgenet
Manifestation, Neurologic KCNA6 phenotype C0027854 Biomarker 0.01 disgenet
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