Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epidermolysis Bullosa, Junctional LAMC2 disease C0079301 GeneticVariation 0.8 orphanet , disgenet
Epidermolysis Bullosa, Junctional LAMB3 disease C0079301 AlteredExpression 0.8 orphanet , disgenet
Epidermolysis Bullosa, Junctional LAMB3 disease C0079301 GeneticVariation 0.8 orphanet , disgenet
Epidermolysis Bullosa, Junctional LAMB3 disease C0079301 Biomarker 0.8 orphanet , disgenet
Epidermolysis Bullosa, Junctional LAMC2 disease C0079301 AlteredExpression 0.8 orphanet , disgenet
Epidermolysis Bullosa, Junctional LAMA3 disease C0079301 GeneticVariation 0.8 orphanet , disgenet
Epidermolysis Bullosa, Junctional LAMC2 disease C0079301 Biomarker 0.8 orphanet , disgenet
Epidermolysis Bullosa, Junctional LAMA3 disease C0079301 Biomarker 0.8 orphanet , disgenet
Epidermolysis Bullosa, Junctional LAMA3 disease C0079301 AlteredExpression 0.8 orphanet , disgenet
Epidermolysis Bullosa, Junctional ITGB4 disease C0079301 AlteredExpression 0.57 orphanet , disgenet
Epidermolysis Bullosa, Junctional ITGB4 disease C0079301 GeneticVariation 0.57 orphanet , disgenet
Epidermolysis Bullosa, Junctional ITGB4 disease C0079301 Biomarker 0.57 orphanet , disgenet
Epidermolysis Bullosa, Junctional COL17A1 disease C0079301 AlteredExpression 0.5 orphanet , disgenet
Epidermolysis Bullosa, Junctional COL17A1 disease C0079301 GeneticVariation 0.5 orphanet , disgenet
Epidermolysis Bullosa, Junctional COL17A1 disease C0079301 Biomarker 0.5 orphanet , disgenet
Epidermolysis Bullosa, Junctional ITGA3 disease C0079301 GeneticVariation 0.33 disgenet
Epidermolysis Bullosa, Junctional ITGA3 disease C0079301 Biomarker 0.33 disgenet
Epidermolysis Bullosa, Junctional LAD1 disease C0079301 AlteredExpression 0.02 disgenet
Epidermolysis Bullosa, Junctional LAMC1 disease C0079301 Biomarker 0.01 disgenet
Epidermolysis Bullosa, Junctional CXCL8 disease C0079301 Biomarker 0.01 disgenet
Epidermolysis Bullosa, Junctional LAMA5 disease C0079301 Biomarker 0.01 disgenet
Epidermolysis Bullosa, Junctional DST disease C0079301 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa, Junctional EXPH5 disease C0079301 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa, Junctional YAP1 disease C0079301 AlteredExpression 0.01 disgenet
Epidermolysis Bullosa, Junctional EGF disease C0079301 Biomarker 0.01 disgenet
Epidermolysis Bullosa, Junctional COL7A1 disease C0079301 GeneticVariation 0.01 disgenet
Epidermolysis Bullosa, Junctional PLA1A disease C0079301 GeneticVariation 0.01 disgenet
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