Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Aniridia cerebellar ataxia mental deficiency ITPR1 disease C0431401 GeneticVariation 0.78 disgenet
Aniridia cerebellar ataxia mental deficiency ITPR1 disease C0431401 Biomarker 0.78 disgenet
Aniridia cerebellar ataxia mental deficiency ITPR1 disease C0431401 CausalMutation 0.78 disgenet
Aniridia cerebellar ataxia mental deficiency ITPR1 disease C0431401 GermlineCausalMutation 0.78 disgenet
Aniridia cerebellar ataxia mental deficiency PAX6 disease C0431401 GermlineCausalMutation 0.53 disgenet
Aniridia cerebellar ataxia mental deficiency PAX6 disease C0431401 GeneticVariation 0.53 disgenet
Aniridia cerebellar ataxia mental deficiency PAX6 disease C0431401 Biomarker 0.53 disgenet
Aniridia cerebellar ataxia mental deficiency ACTA2 disease C0431401 Biomarker 0.01 disgenet
Aniridia cerebellar ataxia mental deficiency HCCS disease C0431401 GeneticVariation 0.01 disgenet
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