Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Farber Lipogranulomatosis ASAH1 disease C0268255 AlteredExpression 1 orphanet , disgenet
Farber Lipogranulomatosis ASAH1 disease C0268255 GeneticVariation 1 orphanet , disgenet
Farber Lipogranulomatosis ASAH1 disease C0268255 Biomarker 1 orphanet , disgenet
Farber Lipogranulomatosis ASAH1 disease C0268255 CausalMutation 1 orphanet , disgenet
Farber Lipogranulomatosis ASAH1 disease C0268255 GermlineCausalMutation 1 orphanet , disgenet
Farber Lipogranulomatosis SOD2 disease C0268255 AlteredExpression 0.31 disgenet
Farber Lipogranulomatosis SOD2 disease C0268255 Biomarker 0.31 disgenet
Farber Lipogranulomatosis SMPD1 disease C0268255 Biomarker 0.02 disgenet
Farber Lipogranulomatosis PSAP disease C0268255 Biomarker 0.01 disgenet
Farber Lipogranulomatosis NLRP3 disease C0268255 AlteredExpression 0.01 disgenet
Farber Lipogranulomatosis CCL2 disease C0268255 Biomarker 0.01 disgenet
Farber Lipogranulomatosis GALC disease C0268255 GeneticVariation 0.01 disgenet
Farber Lipogranulomatosis ACER3 NA C0268255 NA NA orphanet
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