Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Niemann-Pick disease, type C2 NPC2 disease C1843366 Biomarker 0.78 orphanet , disgenet
Niemann-Pick disease, type C2 NPC2 disease C1843366 GeneticVariation 0.78 orphanet , disgenet
Niemann-Pick disease, type C2 NPC2 disease C1843366 CausalMutation 0.78 orphanet , disgenet
Niemann-Pick disease, type C2 NPC2 disease C1843366 AlteredExpression 0.78 orphanet , disgenet
Niemann-Pick disease, type C2 NPC1 disease C1843366 Biomarker 0.04 disgenet
Niemann-Pick disease, type C2 NPC1 disease C1843366 GeneticVariation 0.04 disgenet
Niemann-Pick disease, type C2 TNF disease C1843366 AlteredExpression 0.01 disgenet
Niemann-Pick disease, type C2 LDLR disease C1843366 Biomarker 0.01 disgenet
Niemann-Pick disease, type C2 NEGR1 disease C1843366 Biomarker 0.01 disgenet
Niemann-Pick disease, type C2 COL1A1 disease C1843366 AlteredExpression 0.01 disgenet
Niemann-Pick disease, type C2 DKC1 disease C1843366 GeneticVariation 0.01 disgenet
Niemann-Pick disease, type C2 ABCA1 disease C1843366 AlteredExpression 0.01 disgenet
Niemann-Pick disease, type C2 GNAS disease C1843366 GeneticVariation 0.01 disgenet
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