Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mastocytoses, Systemic KIT disease C0221013 Biomarker 0.7 orphanet , disgenet
Mastocytoses, Systemic KIT disease C0221013 GeneticVariation 0.7 orphanet , disgenet
Mastocytoses, Systemic KIT disease C0221013 AlteredExpression 0.7 orphanet , disgenet
Mastocytoses, Systemic KIT disease C0221013 CausalMutation 0.7 orphanet , disgenet
Mastocytoses, Systemic HMOX1 disease C0221013 Biomarker 0.3 disgenet
Mastocytoses, Systemic ISG20 disease C0221013 AlteredExpression 0.1 disgenet
Mastocytoses, Systemic FIP1L1 disease C0221013 GeneticVariation 0.1 disgenet
Mastocytoses, Systemic IL2RA disease C0221013 AlteredExpression 0.1 disgenet
Mastocytoses, Systemic IL2RA disease C0221013 Biomarker 0.1 disgenet
Mastocytoses, Systemic ISG20 disease C0221013 Biomarker 0.1 disgenet
Mastocytoses, Systemic ISG20 disease C0221013 GeneticVariation 0.1 disgenet
Mastocytoses, Systemic IL2RA disease C0221013 GeneticVariation 0.1 disgenet
Mastocytoses, Systemic FIP1L1 disease C0221013 AlteredExpression 0.1 disgenet
Mastocytoses, Systemic FLT3 disease C0221013 Biomarker 0.1 disgenet
Mastocytoses, Systemic PDGFRA disease C0221013 GeneticVariation 0.1 disgenet
Mastocytoses, Systemic FLT3 disease C0221013 GeneticVariation 0.1 disgenet
Mastocytoses, Systemic FIP1L1 disease C0221013 Biomarker 0.1 disgenet
Mastocytoses, Systemic PDGFRA disease C0221013 Biomarker 0.1 disgenet
Mastocytoses, Systemic PDGFRA disease C0221013 AlteredExpression 0.1 disgenet
Mastocytoses, Systemic TET2 disease C0221013 AlteredExpression 0.08 orphanet , disgenet
Mastocytoses, Systemic TET2 disease C0221013 GeneticVariation 0.08 orphanet , disgenet
Mastocytoses, Systemic TET2 disease C0221013 Biomarker 0.08 orphanet , disgenet
Mastocytoses, Systemic TNFRSF8 disease C0221013 AlteredExpression 0.08 disgenet
Mastocytoses, Systemic TNFRSF8 disease C0221013 Biomarker 0.08 disgenet
Mastocytoses, Systemic STAT5A disease C0221013 Biomarker 0.05 disgenet
Mastocytoses, Systemic STAT5B disease C0221013 GeneticVariation 0.05 disgenet
Mastocytoses, Systemic STAT5A disease C0221013 GeneticVariation 0.05 disgenet
Mastocytoses, Systemic JAK2 disease C0221013 GeneticVariation 0.05 disgenet
Mastocytoses, Systemic STAT5B disease C0221013 Biomarker 0.05 disgenet
Mastocytoses, Systemic CD34 disease C0221013 Biomarker 0.05 disgenet
Mastocytoses, Systemic FGFR1 disease C0221013 Biomarker 0.04 disgenet
Mastocytoses, Systemic RUNX1 disease C0221013 Biomarker 0.04 disgenet
Mastocytoses, Systemic RUNX1 disease C0221013 GeneticVariation 0.04 disgenet
Mastocytoses, Systemic FGFR1 disease C0221013 GeneticVariation 0.04 disgenet
Mastocytoses, Systemic ASXL1 disease C0221013 GeneticVariation 0.04 orphanet , disgenet
Mastocytoses, Systemic FGFR1 disease C0221013 AlteredExpression 0.04 disgenet
Mastocytoses, Systemic CBL disease C0221013 GeneticVariation 0.03 disgenet
Mastocytoses, Systemic ENPP3 disease C0221013 Biomarker 0.03 disgenet
Mastocytoses, Systemic ENPP3 disease C0221013 AlteredExpression 0.03 disgenet
Mastocytoses, Systemic BCL2 disease C0221013 AlteredExpression 0.02 disgenet
Mastocytoses, Systemic FH disease C0221013 GeneticVariation 0.02 disgenet
Mastocytoses, Systemic FH disease C0221013 Biomarker 0.02 disgenet
Mastocytoses, Systemic CD52 disease C0221013 AlteredExpression 0.02 disgenet
Mastocytoses, Systemic NRAS disease C0221013 GeneticVariation 0.02 disgenet
Mastocytoses, Systemic ISM1 disease C0221013 Biomarker 0.02 disgenet
Mastocytoses, Systemic RUNX1T1 disease C0221013 AlteredExpression 0.02 disgenet
Mastocytoses, Systemic CLEC4D disease C0221013 GeneticVariation 0.02 disgenet
Mastocytoses, Systemic H19 disease C0221013 Biomarker 0.02 disgenet
Mastocytoses, Systemic CD52 disease C0221013 Biomarker 0.02 disgenet
Mastocytoses, Systemic SMPD1 disease C0221013 GeneticVariation 0.02 disgenet
Mastocytoses, Systemic IL13 disease C0221013 GeneticVariation 0.02 disgenet
Mastocytoses, Systemic H19 disease C0221013 GeneticVariation 0.02 disgenet
Mastocytoses, Systemic U2AF1 disease C0221013 GeneticVariation 0.02 disgenet
Mastocytoses, Systemic NRAS disease C0221013 Biomarker 0.02 disgenet
Mastocytoses, Systemic CLEC4D disease C0221013 Biomarker 0.02 disgenet
Mastocytoses, Systemic FCER2 disease C0221013 Biomarker 0.02 disgenet
Mastocytoses, Systemic SMPD1 disease C0221013 Biomarker 0.02 disgenet
Mastocytoses, Systemic RUNX1T1 disease C0221013 GeneticVariation 0.02 disgenet
Mastocytoses, Systemic TNFSF8 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic MYH11 disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic IL3 disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic IFNA13 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic IL9 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic CEBPZ disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic NELL2 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic OSM disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic KITLG disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic IGHE disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic TNFSF11 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic CD47 disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic SMN1 disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic NTRK1 disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic CDA disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic CD2 disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic IL5 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic CALR disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic IL3RA disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic CD44 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic PARK7 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic TNFRSF11B disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic PTPRC disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic CD274 disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic BRD4 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic CD40LG disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic HDC disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic CLEC11A disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic PTPN6 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic CBFB disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic ETNK1 disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic BTF3P11 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic CLU disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic SMN2 disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic NRP2 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic SIRPA disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic IL6 disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic NOS1 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic CASK disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic BRAF disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic CD33 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic NR0B2 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic NGF disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic EPO disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic CEL disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic CHIC2 disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic SETD2 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic IFNA1 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic MTOR disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic CD38 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic LIN28B disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic PDGFRB disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic CCL2 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic MAP2K7 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic PRKG2 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic U2AF1L5 disease C0221013 GeneticVariation 0.01 disgenet
Mastocytoses, Systemic NOS2 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic TLR3 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic MCL1 disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic PLK1 disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic KIDINS220 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic AKT1 disease C0221013 Biomarker 0.01 disgenet
Mastocytoses, Systemic MITF disease C0221013 AlteredExpression 0.01 disgenet
Mastocytoses, Systemic SRSF2 disease C0221013 GeneticVariation 0.01 orphanet , disgenet
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