Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Variegates, Porphyria PPOX disease C0162532 Biomarker 0.9 orphanet , disgenet
Variegates, Porphyria PPOX disease C0162532 GeneticVariation 0.9 orphanet , disgenet
Variegates, Porphyria PPOX disease C0162532 AlteredExpression 0.9 orphanet , disgenet
Variegates, Porphyria PPOX disease C0162532 CausalMutation 0.9 orphanet , disgenet
Variegates, Porphyria HFE disease C0162532 Biomarker 0.41 disgenet
Variegates, Porphyria HFE disease C0162532 CausalMutation 0.41 disgenet
Variegates, Porphyria HFE disease C0162532 GeneticVariation 0.41 disgenet
Variegates, Porphyria HMBS disease C0162532 AlteredExpression 0.04 disgenet
Variegates, Porphyria HMBS disease C0162532 GeneticVariation 0.04 disgenet
Variegates, Porphyria FECH disease C0162532 GeneticVariation 0.03 disgenet
Variegates, Porphyria FECH disease C0162532 Biomarker 0.03 disgenet
Variegates, Porphyria CPOX disease C0162532 Biomarker 0.02 disgenet
Variegates, Porphyria DLL4 disease C0162532 AlteredExpression 0.01 disgenet
Variegates, Porphyria CDC23 disease C0162532 AlteredExpression 0.01 disgenet
Variegates, Porphyria AQP2 disease C0162532 AlteredExpression 0.01 disgenet
Variegates, Porphyria NDC80 disease C0162532 AlteredExpression 0.01 disgenet
Variegates, Porphyria OTX2 disease C0162532 AlteredExpression 0.01 disgenet
Variegates, Porphyria MST1 disease C0162532 AlteredExpression 0.01 disgenet
Variegates, Porphyria RDH5 disease C0162532 Biomarker 0.01 disgenet
Variegates, Porphyria SERPINA1 disease C0162532 Biomarker 0.01 disgenet
Variegates, Porphyria ALAS1 disease C0162532 Biomarker 0.01 disgenet
Variegates, Porphyria FOXP3 disease C0162532 Biomarker 0.01 disgenet
Variegates, Porphyria CAT disease C0162532 Biomarker 0.01 disgenet
Variegates, Porphyria CCN1 disease C0162532 AlteredExpression 0.01 disgenet
Variegates, Porphyria ABCB1 disease C0162532 AlteredExpression 0.01 disgenet
Variegates, Porphyria KCNIP3 disease C0162532 AlteredExpression 0.01 disgenet
Variegates, Porphyria UROD disease C0162532 GeneticVariation 0.01 disgenet
Variegates, Porphyria BUB1B disease C0162532 AlteredExpression 0.01 disgenet
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