Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Erythropoietic Protoporphyria FECH disease C0162568 AlteredExpression 0.8 orphanet , disgenet
Erythropoietic Protoporphyria FECH disease C0162568 Biomarker 0.8 orphanet , disgenet
Erythropoietic Protoporphyria FECH disease C0162568 GeneticVariation 0.8 orphanet , disgenet
Erythropoietic Protoporphyria FECH disease C0162568 Therapeutic 0.8 orphanet , disgenet
Erythropoietic Protoporphyria AREG disease C0162568 Biomarker 0.3 disgenet
Erythropoietic Protoporphyria EREG disease C0162568 Biomarker 0.3 disgenet
Erythropoietic Protoporphyria BTC disease C0162568 Biomarker 0.3 disgenet
Erythropoietic Protoporphyria ABCG2 disease C0162568 Biomarker 0.22 disgenet
Erythropoietic Protoporphyria ALAS2 disease C0162568 Biomarker 0.1 orphanet , disgenet
Erythropoietic Protoporphyria ALAS2 disease C0162568 GeneticVariation 0.1 orphanet , disgenet
Erythropoietic Protoporphyria ALAS2 disease C0162568 AlteredExpression 0.1 orphanet , disgenet
Erythropoietic Protoporphyria SLC25A37 disease C0162568 AlteredExpression 0.02 disgenet
Erythropoietic Protoporphyria ALAS1 disease C0162568 AlteredExpression 0.02 disgenet
Erythropoietic Protoporphyria ALAS1 disease C0162568 GeneticVariation 0.02 disgenet
Erythropoietic Protoporphyria POMC disease C0162568 Biomarker 0.02 disgenet
Erythropoietic Protoporphyria HMBS disease C0162568 GeneticVariation 0.01 disgenet
Erythropoietic Protoporphyria HMOX1 disease C0162568 Biomarker 0.01 disgenet
Erythropoietic Protoporphyria TNFSF14 disease C0162568 Biomarker 0.01 disgenet
Erythropoietic Protoporphyria PPOX disease C0162568 GeneticVariation 0.01 disgenet
Erythropoietic Protoporphyria UROS disease C0162568 GeneticVariation 0.01 disgenet
Erythropoietic Protoporphyria GDF15 disease C0162568 Biomarker 0.01 disgenet
Erythropoietic Protoporphyria TXN disease C0162568 Biomarker 0.01 disgenet
Erythropoietic Protoporphyria CLPX disease C0162568 Biomarker 0.01 disgenet
Erythropoietic Protoporphyria HAMP disease C0162568 GeneticVariation 0.01 disgenet
Erythropoietic Protoporphyria SMARCA4 disease C0162568 AlteredExpression 0.01 disgenet
Erythropoietic Protoporphyria SUCLA2 disease C0162568 GeneticVariation 0.01 disgenet
Erythropoietic Protoporphyria TFRC disease C0162568 Biomarker 0.01 disgenet
Erythropoietic Protoporphyria UROD disease C0162568 GeneticVariation 0.01 disgenet
Erythropoietic Protoporphyria TXNRD1 disease C0162568 AlteredExpression 0.01 disgenet
Erythropoietic Protoporphyria CD38 disease C0162568 GeneticVariation 0.01 disgenet
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