Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ceroid Lipofuscinosis, Neuronal, 1 PPT1 disease C1850451 CausalMutation 0.98 disgenet
Ceroid Lipofuscinosis, Neuronal, 1 PPT1 disease C1850451 GeneticVariation 0.98 disgenet
Ceroid Lipofuscinosis, Neuronal, 1 PPT1 disease C1850451 GermlineCausalMutation 0.98 disgenet
Ceroid Lipofuscinosis, Neuronal, 1 PPT1 disease C1850451 Biomarker 0.98 disgenet
Ceroid Lipofuscinosis, Neuronal, 1 PPT1 disease C1850451 AlteredExpression 0.98 disgenet
Ceroid Lipofuscinosis, Neuronal, 1 TPP1 disease C1850451 Biomarker 0.02 disgenet
Ceroid Lipofuscinosis, Neuronal, 1 TPP1 disease C1850451 AlteredExpression 0.02 disgenet
Ceroid Lipofuscinosis, Neuronal, 1 STXBP1 disease C1850451 Biomarker 0.01 disgenet
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