Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epidermolysis Bullosa Dystrophica COL7A1 disease C0079294 Biomarker 0.9 orphanet , disgenet
Epidermolysis Bullosa Dystrophica COL7A1 disease C0079294 CausalMutation 0.9 orphanet , disgenet
Epidermolysis Bullosa Dystrophica COL7A1 disease C0079294 GeneticVariation 0.9 orphanet , disgenet
Epidermolysis Bullosa Dystrophica MMP1 disease C0079294 GeneticVariation 0.31 disgenet
Epidermolysis Bullosa Dystrophica MMP1 disease C0079294 Biomarker 0.31 disgenet
Epidermolysis Bullosa Dystrophica GRIP1 disease C0079294 Biomarker 0.2 disgenet
Epidermolysis Bullosa Dystrophica NHS disease C0079294 Biomarker 0.01 disgenet
Epidermolysis Bullosa Dystrophica IGFBP3 disease C0079294 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa Dystrophica TNF disease C0079294 Biomarker 0.01 disgenet
Epidermolysis Bullosa Dystrophica ERBIN disease C0079294 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa Dystrophica EGFR disease C0079294 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa Dystrophica IFNG disease C0079294 Biomarker 0.01 disgenet
Epidermolysis Bullosa Dystrophica STS disease C0079294 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa Dystrophica IL2 disease C0079294 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa Dystrophica IL6 disease C0079294 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa Dystrophica FN1 disease C0079294 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa Dystrophica BMP1 disease C0079294 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa Dystrophica COL1A1 disease C0079294 GeneticVariation 0.01 disgenet
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