Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ceroid lipofuscinosis, neuronal 5 CLN5 disease C1850442 GermlineCausalMutation 0.97 orphanet , disgenet
Ceroid lipofuscinosis, neuronal 5 CLN5 disease C1850442 CausalMutation 0.97 orphanet , disgenet
Ceroid lipofuscinosis, neuronal 5 CLN5 disease C1850442 Biomarker 0.97 orphanet , disgenet
Ceroid lipofuscinosis, neuronal 5 CLN5 disease C1850442 GeneticVariation 0.97 orphanet , disgenet
Ceroid lipofuscinosis, neuronal 5 FBXL3 disease C1850442 GeneticVariation 0.1 disgenet
Ceroid lipofuscinosis, neuronal 5 FBXL3 disease C1850442 CausalMutation 0.1 disgenet
Ceroid lipofuscinosis, neuronal 5 NCL disease C1850442 GeneticVariation 0.01 disgenet
Ceroid lipofuscinosis, neuronal 5 SNCA disease C1850442 AlteredExpression 0.01 disgenet
Ceroid lipofuscinosis, neuronal 5 CLN6 disease C1850442 GeneticVariation 0.01 disgenet
Ceroid lipofuscinosis, neuronal 5 CLN9 disease C1850442 GeneticVariation 0.01 disgenet
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