Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ceroid lipofuscinosis, neuronal 1, infantile PPT1 disease C2931673 GeneticVariation 0.6 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile PPT1 disease C2931673 Biomarker 0.6 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile SIRT1 disease C2931673 Biomarker 0.3 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile MFN1 disease C2931673 Biomarker 0.3 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile PARP1 disease C2931673 Biomarker 0.3 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile FIS1 disease C2931673 Biomarker 0.3 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile GFAP disease C2931673 Biomarker 0.3 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile PPARGC1A disease C2931673 Biomarker 0.3 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile SYP disease C2931673 Biomarker 0.3 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile RPS6KB1 disease C2931673 Biomarker 0.3 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile TFAM disease C2931673 Biomarker 0.3 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile PPP5C disease C2931673 GeneticVariation 0.03 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile TAC1 disease C2931673 GeneticVariation 0.03 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile HRAS disease C2931673 Biomarker 0.01 disgenet
Ceroid lipofuscinosis, neuronal 1, infantile CAPN3 disease C2931673 AlteredExpression 0.01 disgenet
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