Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epidermolysis bullosa simplex, Ogna type PLEC disease C0432317 CausalMutation 0.9 disgenet
Epidermolysis bullosa simplex, Ogna type PLEC disease C0432317 Biomarker 0.9 disgenet
Epidermolysis bullosa simplex, Ogna type PLEC disease C0432317 GeneticVariation 0.9 disgenet
Epidermolysis bullosa simplex, Ogna type PLEC disease C0432317 GermlineCausalMutation 0.9 disgenet
Epidermolysis bullosa simplex, Ogna type ITGB4 disease C0432317 GeneticVariation 0.1 disgenet
Epidermolysis bullosa simplex, Ogna type ITGB4 disease C0432317 CausalMutation 0.1 disgenet
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