Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Familial Mediterranean Fever MEFV disease C0031069 GeneticVariation 1 orphanet , disgenet
Familial Mediterranean Fever MEFV disease C0031069 AlteredExpression 1 orphanet , disgenet
Familial Mediterranean Fever MEFV disease C0031069 Biomarker 1 orphanet , disgenet
Familial Mediterranean Fever MEFV disease C0031069 GermlineCausalMutation 1 orphanet , disgenet
Familial Mediterranean Fever MEFV disease C0031069 CausalMutation 1 orphanet , disgenet
Familial Mediterranean Fever NLRP3 disease C0031069 AlteredExpression 0.2 disgenet
Familial Mediterranean Fever NLRP3 disease C0031069 GeneticVariation 0.2 disgenet
Familial Mediterranean Fever NLRP3 disease C0031069 Biomarker 0.2 disgenet
Familial Mediterranean Fever CASP1 disease C0031069 Biomarker 0.1 disgenet
Familial Mediterranean Fever CRP disease C0031069 GeneticVariation 0.1 disgenet
Familial Mediterranean Fever CRP disease C0031069 AlteredExpression 0.1 disgenet
Familial Mediterranean Fever IL1B disease C0031069 Biomarker 0.1 disgenet
Familial Mediterranean Fever TNF disease C0031069 AlteredExpression 0.1 disgenet
Familial Mediterranean Fever CRP disease C0031069 Biomarker 0.1 disgenet
Familial Mediterranean Fever IL1B disease C0031069 AlteredExpression 0.1 disgenet
Familial Mediterranean Fever TNF disease C0031069 Biomarker 0.1 disgenet
Familial Mediterranean Fever CASP1 disease C0031069 AlteredExpression 0.1 disgenet
Familial Mediterranean Fever TNF disease C0031069 GeneticVariation 0.1 disgenet
Familial Mediterranean Fever IL1A disease C0031069 AlteredExpression 0.1 disgenet
Familial Mediterranean Fever SEC23B disease C0031069 CausalMutation 0.1 disgenet
Familial Mediterranean Fever SAA1 disease C0031069 GeneticVariation 0.1 disgenet
Familial Mediterranean Fever IL1A disease C0031069 Biomarker 0.1 disgenet
Familial Mediterranean Fever IL1B disease C0031069 GeneticVariation 0.1 disgenet
Familial Mediterranean Fever SAA1 disease C0031069 Biomarker 0.1 disgenet
Familial Mediterranean Fever IL1A disease C0031069 GeneticVariation 0.1 disgenet
Familial Mediterranean Fever TNFRSF1A disease C0031069 GeneticVariation 0.09 disgenet
Familial Mediterranean Fever TNFRSF1A disease C0031069 Biomarker 0.09 disgenet
Familial Mediterranean Fever TNFRSF1A disease C0031069 AlteredExpression 0.09 disgenet
Familial Mediterranean Fever IL6 disease C0031069 Biomarker 0.07 disgenet
Familial Mediterranean Fever IL6 disease C0031069 GeneticVariation 0.07 disgenet
Familial Mediterranean Fever IL6 disease C0031069 AlteredExpression 0.07 disgenet
Familial Mediterranean Fever ABCB1 disease C0031069 GeneticVariation 0.07 disgenet
Familial Mediterranean Fever ABCB1 disease C0031069 Biomarker 0.07 disgenet
Familial Mediterranean Fever IL1RN disease C0031069 AlteredExpression 0.06 disgenet
Familial Mediterranean Fever IL1RN disease C0031069 Biomarker 0.06 disgenet
Familial Mediterranean Fever IL1RN disease C0031069 GeneticVariation 0.06 disgenet
Familial Mediterranean Fever TLR2 disease C0031069 GeneticVariation 0.05 disgenet
Familial Mediterranean Fever TLR2 disease C0031069 AlteredExpression 0.05 disgenet
Familial Mediterranean Fever S100A12 disease C0031069 AlteredExpression 0.04 disgenet
Familial Mediterranean Fever S100A12 disease C0031069 GeneticVariation 0.04 disgenet
Familial Mediterranean Fever SAA2 disease C0031069 GeneticVariation 0.04 disgenet
Familial Mediterranean Fever SAA2 disease C0031069 Biomarker 0.04 disgenet
Familial Mediterranean Fever S100A12 disease C0031069 Biomarker 0.04 disgenet
Familial Mediterranean Fever IL18 disease C0031069 Biomarker 0.03 disgenet
Familial Mediterranean Fever IL18 disease C0031069 AlteredExpression 0.03 disgenet
Familial Mediterranean Fever SERPINE1 disease C0031069 GeneticVariation 0.03 disgenet
Familial Mediterranean Fever IL4 disease C0031069 GeneticVariation 0.03 disgenet
Familial Mediterranean Fever IL18 disease C0031069 GeneticVariation 0.03 disgenet
Familial Mediterranean Fever TLR4 disease C0031069 AlteredExpression 0.03 disgenet
Familial Mediterranean Fever TLR4 disease C0031069 GeneticVariation 0.03 disgenet
Familial Mediterranean Fever LYZ disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever TRIM21 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever ACE disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever FCGR1A disease C0031069 AlteredExpression 0.02 disgenet
Familial Mediterranean Fever KIR2DS1 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever CXCL8 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever NM disease C0031069 AlteredExpression 0.02 disgenet
Familial Mediterranean Fever MVK disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever MVK disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever PSTPIP1 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever NM disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever VEGFA disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever C5 disease C0031069 PosttranslationalModification 0.02 disgenet
Familial Mediterranean Fever ADA2 disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever PSTPIP1 disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever HBA1 disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever HBA1 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever VDR disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever CTLA4 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever HBA2 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever MICA disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever NOD2 disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever C5 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever LEP disease C0031069 AlteredExpression 0.02 disgenet
Familial Mediterranean Fever MICA disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever C5AR1 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever LEP disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever ELF4 disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever C5AR1 disease C0031069 PosttranslationalModification 0.02 disgenet
Familial Mediterranean Fever VEGFA disease C0031069 AlteredExpression 0.02 disgenet
Familial Mediterranean Fever PYCARD disease C0031069 AlteredExpression 0.02 disgenet
Familial Mediterranean Fever HBA2 disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever ELF4 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever KIR2DS1 disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever KIDINS220 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever NOD2 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever KIR3DL2 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever KIR3DL2 disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever TRIM21 disease C0031069 Biomarker 0.02 disgenet
Familial Mediterranean Fever TBC1D9 disease C0031069 GeneticVariation 0.02 disgenet
Familial Mediterranean Fever TNFRSF1B disease C0031069 AlteredExpression 0.01 disgenet
Familial Mediterranean Fever PRRT2 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever IL10 disease C0031069 AlteredExpression 0.01 disgenet
Familial Mediterranean Fever SERPING1 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever PIK3CG disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever GEM disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever RNF19A disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever PRNP disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever CXCR2 disease C0031069 AlteredExpression 0.01 disgenet
Familial Mediterranean Fever STS disease C0031069 AlteredExpression 0.01 disgenet
Familial Mediterranean Fever POLDIP2 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever MIR204 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever KIR3DL1 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever TRIM5 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever HLA-G disease C0031069 AlteredExpression 0.01 disgenet
Familial Mediterranean Fever ABO disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever STING1 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever MAPK14 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever GSDMD disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever GLA disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever CYP3A4 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever IL6R disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever CAMP disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever AHSA1 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever CASP8 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever PRKCA disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever AICDA disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever COL9A3 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever LGALS3 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever CARD14 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever SCN8A disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever CD1C disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever CHIT1 disease C0031069 AlteredExpression 0.01 disgenet
Familial Mediterranean Fever ESR1 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever CD1A disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever RAC1 disease C0031069 AlteredExpression 0.01 disgenet
Familial Mediterranean Fever IFNA2 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever ABCC6 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever APCS disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever COL9A2 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever MAPK7 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever MAPK1 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever PACC1 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever CRK disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever SIVA1 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever MIF disease C0031069 AlteredExpression 0.01 disgenet
Familial Mediterranean Fever ERAL1 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever LMX1B disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever PLG disease C0031069 AlteredExpression 0.01 disgenet
Familial Mediterranean Fever PKN1 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever CASP3 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever AHSG disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever KIR2DS2 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever TRBJ2-7 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever S100B disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever CISH disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever PRKCB disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever FASLG disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever AIMP2 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever COMP disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever TNFRSF11B disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever OCA2 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever PON1 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever CD14 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever LPIN2 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever FOXP3 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever TNFAIP3 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever DDIT4 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever RNPC3 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever AFP disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever HLA-C disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever GPX1 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever IGAN1 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever GJB2 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever GRAP2 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever C5AR2 disease C0031069 PosttranslationalModification 0.01 disgenet
Familial Mediterranean Fever FOS disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever GLO1 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever S100A1 disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever F5 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever NLRP12 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever XIAP disease C0031069 Biomarker 0.01 disgenet
Familial Mediterranean Fever THBD disease C0031069 AlteredExpression 0.01 disgenet
Familial Mediterranean Fever ADIPOQ disease C0031069 AlteredExpression 0.01 disgenet
Familial Mediterranean Fever CPB2 disease C0031069 AlteredExpression 0.01 disgenet
Familial Mediterranean Fever COL9A1 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever TRIM38 disease C0031069 GeneticVariation 0.01 disgenet
Familial Mediterranean Fever JAK2 disease C0031069 GeneticVariation 0.01 disgenet
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