Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ceroid lipofuscinosis, neuronal 8 CLN8 disease C1838570 CausalMutation 0.94 orphanet , disgenet
Ceroid lipofuscinosis, neuronal 8 CLN8 disease C1838570 Biomarker 0.94 orphanet , disgenet
Ceroid lipofuscinosis, neuronal 8 CLN8 disease C1838570 GeneticVariation 0.94 orphanet , disgenet
Ceroid lipofuscinosis, neuronal 8 CLN8 disease C1838570 GermlineCausalMutation 0.94 orphanet , disgenet
Ceroid lipofuscinosis, neuronal 8 CLN6 disease C1838570 Biomarker 0.01 disgenet
Ceroid lipofuscinosis, neuronal 8 CLN5 disease C1838570 Biomarker 0.01 disgenet
Ceroid lipofuscinosis, neuronal 8 MFSD8 disease C1838570 Biomarker 0.01 disgenet
Ceroid lipofuscinosis, neuronal 8 PTPA disease C1838570 AlteredExpression 0.01 disgenet
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