Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epidermolysis Bullosa ITGB4 disease C0014527 GeneticVariation 0.36 disgenet
Epidermolysis Bullosa ITGB4 disease C0014527 Biomarker 0.36 disgenet
Epidermolysis Bullosa KRT5 disease C0014527 Biomarker 0.33 disgenet
Epidermolysis Bullosa KRT5 disease C0014527 GeneticVariation 0.33 disgenet
Epidermolysis Bullosa KRT14 disease C0014527 Biomarker 0.33 disgenet
Epidermolysis Bullosa KRT14 disease C0014527 GeneticVariation 0.33 disgenet
Epidermolysis Bullosa EXPH5 disease C0014527 Biomarker 0.32 disgenet
Epidermolysis Bullosa EXPH5 disease C0014527 GeneticVariation 0.32 disgenet
Epidermolysis Bullosa COL17A1 disease C0014527 AlteredExpression 0.1 disgenet
Epidermolysis Bullosa PLEC disease C0014527 Biomarker 0.1 disgenet
Epidermolysis Bullosa COL17A1 disease C0014527 GeneticVariation 0.1 disgenet
Epidermolysis Bullosa COL17A1 disease C0014527 Biomarker 0.1 disgenet
Epidermolysis Bullosa COL7A1 disease C0014527 GeneticVariation 0.1 disgenet
Epidermolysis Bullosa COL7A1 disease C0014527 Biomarker 0.1 disgenet
Epidermolysis Bullosa PLEC disease C0014527 GeneticVariation 0.1 disgenet
Epidermolysis Bullosa LAMC2 disease C0014527 Biomarker 0.05 disgenet
Epidermolysis Bullosa LAMB3 disease C0014527 GeneticVariation 0.05 disgenet
Epidermolysis Bullosa LAMB3 disease C0014527 Biomarker 0.05 disgenet
Epidermolysis Bullosa LAMC2 disease C0014527 GeneticVariation 0.05 disgenet
Epidermolysis Bullosa DST disease C0014527 Biomarker 0.04 disgenet
Epidermolysis Bullosa DST disease C0014527 GeneticVariation 0.04 disgenet
Epidermolysis Bullosa ITGA3 disease C0014527 Biomarker 0.03 orphanet , disgenet
Epidermolysis Bullosa ITGA3 disease C0014527 GeneticVariation 0.03 orphanet , disgenet
Epidermolysis Bullosa ITGA6 disease C0014527 GeneticVariation 0.03 disgenet
Epidermolysis Bullosa ITGA6 disease C0014527 Biomarker 0.03 disgenet
Epidermolysis Bullosa ACTB disease C0014527 Biomarker 0.02 disgenet
Epidermolysis Bullosa ACTB disease C0014527 GeneticVariation 0.02 disgenet
Epidermolysis Bullosa LAMA3 disease C0014527 GeneticVariation 0.02 disgenet
Epidermolysis Bullosa CCL21 disease C0014527 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa KLHL24 disease C0014527 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa ERBIN disease C0014527 Biomarker 0.01 disgenet
Epidermolysis Bullosa IL1A disease C0014527 Biomarker 0.01 disgenet
Epidermolysis Bullosa DMD disease C0014527 Biomarker 0.01 disgenet
Epidermolysis Bullosa GPT disease C0014527 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa BEST1 disease C0014527 Biomarker 0.01 disgenet
Epidermolysis Bullosa PLOD3 disease C0014527 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa HSPG2 disease C0014527 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa TMSB4X disease C0014527 Biomarker 0.01 disgenet
Epidermolysis Bullosa FLII disease C0014527 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa TGM3 disease C0014527 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa SLCO1B3 disease C0014527 Biomarker 0.01 disgenet
Epidermolysis Bullosa CXCL12 disease C0014527 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa EBM disease C0014527 Biomarker 0.01 disgenet
Epidermolysis Bullosa KRT18 disease C0014527 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa FERMT1 disease C0014527 GeneticVariation 0.01 orphanet , disgenet
Epidermolysis Bullosa RPS27A disease C0014527 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa LAD1 disease C0014527 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa DSC3 disease C0014527 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa LDLR disease C0014527 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa TP53 disease C0014527 Biomarker 0.01 disgenet
Epidermolysis Bullosa TGM5 disease C0014527 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa CEACAM5 disease C0014527 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa IL1B disease C0014527 Biomarker 0.01 disgenet
Epidermolysis Bullosa B3GAT1 disease C0014527 Biomarker 0.01 disgenet
Epidermolysis Bullosa IL6 disease C0014527 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa MMP1 disease C0014527 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa SDC2 disease C0014527 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa CD160 disease C0014527 Biomarker 0.01 disgenet
Epidermolysis Bullosa DSC2 disease C0014527 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa HMGB1 disease C0014527 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa DSP disease C0014527 Biomarker 0.01 disgenet
Epidermolysis Bullosa CD151 NA C0014527 NA NA orphanet
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