Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epidermolysis Bullosa Simplex KRT5 disease C0079298 CausalMutation 0.9 disgenet
Epidermolysis Bullosa Simplex KRT5 disease C0079298 GeneticVariation 0.9 disgenet
Epidermolysis Bullosa Simplex KRT5 disease C0079298 Biomarker 0.9 disgenet
Epidermolysis Bullosa Simplex KRT14 disease C0079298 CausalMutation 0.7 disgenet
Epidermolysis Bullosa Simplex KRT14 disease C0079298 GeneticVariation 0.7 disgenet
Epidermolysis Bullosa Simplex KRT14 disease C0079298 AlteredExpression 0.7 disgenet
Epidermolysis Bullosa Simplex KRT14 disease C0079298 Biomarker 0.7 disgenet
Epidermolysis Bullosa Simplex EXPH5 disease C0079298 GeneticVariation 0.33 orphanet , disgenet
Epidermolysis Bullosa Simplex EXPH5 disease C0079298 Biomarker 0.33 orphanet , disgenet
Epidermolysis Bullosa Simplex DST disease C0079298 GeneticVariation 0.32 orphanet , disgenet
Epidermolysis Bullosa Simplex DST disease C0079298 Biomarker 0.32 orphanet , disgenet
Epidermolysis Bullosa Simplex PLEC disease C0079298 Biomarker 0.3 orphanet , disgenet
Epidermolysis Bullosa Simplex ITGB4 disease C0079298 Biomarker 0.3 disgenet
Epidermolysis Bullosa Simplex PLEC disease C0079298 GeneticVariation 0.3 orphanet , disgenet
Epidermolysis Bullosa Simplex NAT9 disease C0079298 Biomarker 0.05 disgenet
Epidermolysis Bullosa Simplex NAT9 disease C0079298 GeneticVariation 0.05 disgenet
Epidermolysis Bullosa Simplex COL17A1 disease C0079298 GeneticVariation 0.04 disgenet
Epidermolysis Bullosa Simplex COL17A1 disease C0079298 Biomarker 0.04 disgenet
Epidermolysis Bullosa Simplex KLHL24 disease C0079298 Biomarker 0.03 orphanet , disgenet
Epidermolysis Bullosa Simplex KLHL24 disease C0079298 GeneticVariation 0.03 orphanet , disgenet
Epidermolysis Bullosa Simplex KRT1 disease C0079298 GeneticVariation 0.02 disgenet
Epidermolysis Bullosa Simplex VIM disease C0079298 GeneticVariation 0.02 disgenet
Epidermolysis Bullosa Simplex MMP9 disease C0079298 Biomarker 0.01 disgenet
Epidermolysis Bullosa Simplex IL2 disease C0079298 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa Simplex ACTB disease C0079298 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa Simplex TGM5 disease C0079298 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa Simplex CXCL8 disease C0079298 Biomarker 0.01 disgenet
Epidermolysis Bullosa Simplex KRT17 disease C0079298 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa Simplex CPSF4 disease C0079298 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa Simplex HSP90AA1 disease C0079298 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa Simplex KRT9 disease C0079298 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa Simplex KRT10 disease C0079298 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa Simplex BHLHE23 disease C0079298 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa Simplex FN1 disease C0079298 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa Simplex IL6 disease C0079298 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa Simplex MAPK8 disease C0079298 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa Simplex DES disease C0079298 Biomarker 0.01 disgenet
Epidermolysis Bullosa Simplex GFAP disease C0079298 Biomarker 0.01 disgenet
Epidermolysis Bullosa Simplex TNF disease C0079298 Biomarker 0.01 disgenet
Epidermolysis Bullosa Simplex IVL disease C0079298 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa Simplex PLOD3 disease C0079298 GeneticVariation 0.01 disgenet
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