Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Porphyria, Acute Intermittent HMBS disease C0162565 GeneticVariation 1 orphanet , disgenet
Porphyria, Acute Intermittent HMBS disease C0162565 AlteredExpression 1 orphanet , disgenet
Porphyria, Acute Intermittent HMBS disease C0162565 Biomarker 1 orphanet , disgenet
Porphyria, Acute Intermittent HMBS disease C0162565 CausalMutation 1 orphanet , disgenet
Porphyria, Acute Intermittent HMBS disease C0162565 PosttranslationalModification 1 orphanet , disgenet
Porphyria, Acute Intermittent ALAS1 disease C0162565 AlteredExpression 0.08 disgenet
Porphyria, Acute Intermittent ALAS1 disease C0162565 Biomarker 0.08 disgenet
Porphyria, Acute Intermittent AIP disease C0162565 Biomarker 0.04 disgenet
Porphyria, Acute Intermittent AIP disease C0162565 GeneticVariation 0.04 disgenet
Porphyria, Acute Intermittent PPOX disease C0162565 AlteredExpression 0.04 disgenet
Porphyria, Acute Intermittent PRSS1 disease C0162565 GeneticVariation 0.04 disgenet
Porphyria, Acute Intermittent PPOX disease C0162565 Biomarker 0.04 disgenet
Porphyria, Acute Intermittent PPOX disease C0162565 GeneticVariation 0.04 disgenet
Porphyria, Acute Intermittent CXCR5 disease C0162565 Biomarker 0.03 disgenet
Porphyria, Acute Intermittent UROD disease C0162565 GeneticVariation 0.03 disgenet
Porphyria, Acute Intermittent SPINK1 disease C0162565 GeneticVariation 0.03 disgenet
Porphyria, Acute Intermittent UROD disease C0162565 Biomarker 0.03 disgenet
Porphyria, Acute Intermittent SPINK1 disease C0162565 Biomarker 0.03 disgenet
Porphyria, Acute Intermittent ALAD disease C0162565 GeneticVariation 0.03 disgenet
Porphyria, Acute Intermittent HLA-DRB1 disease C0162565 Biomarker 0.03 disgenet
Porphyria, Acute Intermittent HLA-DRB1 disease C0162565 GeneticVariation 0.03 disgenet
Porphyria, Acute Intermittent CELA1 disease C0162565 Biomarker 0.03 disgenet
Porphyria, Acute Intermittent ALAD disease C0162565 Biomarker 0.03 disgenet
Porphyria, Acute Intermittent KRAS disease C0162565 Biomarker 0.02 disgenet
Porphyria, Acute Intermittent CFTR disease C0162565 GeneticVariation 0.02 disgenet
Porphyria, Acute Intermittent IFNA13 disease C0162565 Biomarker 0.02 disgenet
Porphyria, Acute Intermittent IL33 disease C0162565 Biomarker 0.02 disgenet
Porphyria, Acute Intermittent KRAS disease C0162565 GeneticVariation 0.02 disgenet
Porphyria, Acute Intermittent LTA disease C0162565 AlteredExpression 0.02 disgenet
Porphyria, Acute Intermittent LTBR disease C0162565 Biomarker 0.02 disgenet
Porphyria, Acute Intermittent TLR4 disease C0162565 Biomarker 0.02 disgenet
Porphyria, Acute Intermittent TNF disease C0162565 GeneticVariation 0.02 disgenet
Porphyria, Acute Intermittent LTBR disease C0162565 AlteredExpression 0.02 disgenet
Porphyria, Acute Intermittent CFTR disease C0162565 Biomarker 0.02 disgenet
Porphyria, Acute Intermittent TLR4 disease C0162565 GeneticVariation 0.02 disgenet
Porphyria, Acute Intermittent IFNA1 disease C0162565 Biomarker 0.02 disgenet
Porphyria, Acute Intermittent AMY2A disease C0162565 Biomarker 0.02 disgenet
Porphyria, Acute Intermittent CALCA disease C0162565 Biomarker 0.02 disgenet
Porphyria, Acute Intermittent FOXP3 disease C0162565 Biomarker 0.02 disgenet
Porphyria, Acute Intermittent MST1 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent CCR2 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent TLR9 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent CXCL8 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent LILRB1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent IL21 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent MED1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent ALAS2 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent B2M disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent CYP2D6 disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent IGHV3OR16-7 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent SST disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent CYP3A5 disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent CYP4F3 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent DOCK3 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent SMUG1 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent HLA-E disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent IFN1@ disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent TGM2 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent LAIR1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent ATP8 disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent SLC15A2 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent LINC01193 disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent DPAGT1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent NTRK1 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent MIR34A disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent MGST3 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent MVD disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent IL22 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent GC disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent HSPE1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent CALCB disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent PKD1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent SKI disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent KCNA3 disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent PDPN disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent FCRL3 disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent TGFB1 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent LOC102724971 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent TFPI2 disease C0162565 PosttranslationalModification 0.01 disgenet
Porphyria, Acute Intermittent SCT disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent NGF disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent IGHV3-69-1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent IDO1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent PTX3 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent PEBP1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent LOC102723407 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent SMAD4 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent FECH disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent ENO1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent LOC105379528 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent PLAT disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent MS4A1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent HLA-A disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent H2AX disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent CD274 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent ABCF1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent TLR2 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent PPIG disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent POMC disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent KRT20 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent KNTC1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent CTLA4 disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent MIR150 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent CAT disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent MMRN1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent MIR181D disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent MIR193B disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent APOA2 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent IL13 disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent ARSA disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent DEGS1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent LOC390714 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent TP53 disease C0162565 GeneticVariation 0.01 disgenet
Porphyria, Acute Intermittent IL10 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent CA2 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent CRP disease C0162565 AlteredExpression 0.01 disgenet
Porphyria, Acute Intermittent PPBP disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent THY1 disease C0162565 Biomarker 0.01 disgenet
Porphyria, Acute Intermittent CPOX disease C0162565 Biomarker 0.01 disgenet
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