Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cerebellar Ataxia and Hypogonadotropic Hypogonadism RNF216 disease C1859305 CausalMutation 0.75 disgenet
Cerebellar Ataxia and Hypogonadotropic Hypogonadism RNF216 disease C1859305 GeneticVariation 0.75 disgenet
Cerebellar Ataxia and Hypogonadotropic Hypogonadism RNF216 disease C1859305 GermlineCausalMutation 0.75 disgenet
Cerebellar Ataxia and Hypogonadotropic Hypogonadism RNF216 disease C1859305 Biomarker 0.75 disgenet
Cerebellar Ataxia and Hypogonadotropic Hypogonadism PNPLA6 disease C1859305 GermlineCausalMutation 0.32 disgenet
Cerebellar Ataxia and Hypogonadotropic Hypogonadism PNPLA6 disease C1859305 Biomarker 0.32 disgenet
Cerebellar Ataxia and Hypogonadotropic Hypogonadism STUB1 disease C1859305 Biomarker 0.02 disgenet
Cerebellar Ataxia and Hypogonadotropic Hypogonadism GNRH1 disease C1859305 Biomarker 0.01 disgenet
Cerebellar Ataxia and Hypogonadotropic Hypogonadism MUL1 disease C1859305 Biomarker 0.01 disgenet
Cerebellar Ataxia and Hypogonadotropic Hypogonadism OTUD4 disease C1859305 GeneticVariation 0.01 disgenet
Cerebellar Ataxia and Hypogonadotropic Hypogonadism PRKN disease C1859305 Biomarker 0.01 disgenet
Cerebellar Ataxia and Hypogonadotropic Hypogonadism CBLL2 disease C1859305 Biomarker 0.01 disgenet
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