Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mastocytoses KIT disease C0024899 GeneticVariation 1 orphanet , disgenet
Mastocytoses KIT disease C0024899 Biomarker 1 orphanet , disgenet
Mastocytoses KIT disease C0024899 AlteredExpression 1 orphanet , disgenet
Mastocytoses KIT disease C0024899 CausalMutation 1 orphanet , disgenet
Mastocytoses FOXF1 disease C0024899 Biomarker 0.3 disgenet
Mastocytoses TET2 disease C0024899 GeneticVariation 0.15 disgenet
Mastocytoses TET2 disease C0024899 Biomarker 0.15 disgenet
Mastocytoses SRSF2 disease C0024899 Biomarker 0.12 disgenet
Mastocytoses SRSF2 disease C0024899 GeneticVariation 0.12 disgenet
Mastocytoses ASXL1 disease C0024899 GeneticVariation 0.11 disgenet
Mastocytoses ASXL1 disease C0024899 Biomarker 0.11 disgenet
Mastocytoses NTRK1 disease C0024899 AlteredExpression 0.07 disgenet
Mastocytoses NTRK1 disease C0024899 Biomarker 0.07 disgenet
Mastocytoses NTRK1 disease C0024899 GeneticVariation 0.07 disgenet
Mastocytoses PDGFRA disease C0024899 Biomarker 0.05 disgenet
Mastocytoses CD34 disease C0024899 Biomarker 0.05 disgenet
Mastocytoses STAT5B disease C0024899 Biomarker 0.04 disgenet
Mastocytoses ISG20 disease C0024899 GeneticVariation 0.04 disgenet
Mastocytoses STAT5B disease C0024899 AlteredExpression 0.04 disgenet
Mastocytoses ISG20 disease C0024899 AlteredExpression 0.04 disgenet
Mastocytoses STAT5A disease C0024899 Biomarker 0.04 disgenet
Mastocytoses STAT5A disease C0024899 AlteredExpression 0.04 disgenet
Mastocytoses IL2RA disease C0024899 GeneticVariation 0.04 disgenet
Mastocytoses ISG20 disease C0024899 Biomarker 0.04 disgenet
Mastocytoses IL2RA disease C0024899 Biomarker 0.04 disgenet
Mastocytoses IL2RA disease C0024899 AlteredExpression 0.04 disgenet
Mastocytoses TNFRSF8 disease C0024899 AlteredExpression 0.04 disgenet
Mastocytoses TNFRSF8 disease C0024899 Biomarker 0.04 disgenet
Mastocytoses CD274 disease C0024899 Biomarker 0.03 disgenet
Mastocytoses IL9 disease C0024899 AlteredExpression 0.03 disgenet
Mastocytoses IL9 disease C0024899 Biomarker 0.03 disgenet
Mastocytoses IL6 disease C0024899 GeneticVariation 0.03 disgenet
Mastocytoses CD274 disease C0024899 AlteredExpression 0.03 disgenet
Mastocytoses IL6 disease C0024899 Biomarker 0.03 disgenet
Mastocytoses NGF disease C0024899 Biomarker 0.02 disgenet
Mastocytoses IGHE disease C0024899 Biomarker 0.02 disgenet
Mastocytoses FIP1L1 disease C0024899 Biomarker 0.02 disgenet
Mastocytoses IL31 disease C0024899 Biomarker 0.02 disgenet
Mastocytoses TPSAB1 disease C0024899 GeneticVariation 0.02 disgenet
Mastocytoses JAK2 disease C0024899 GeneticVariation 0.02 disgenet
Mastocytoses TPSD1 disease C0024899 Biomarker 0.02 disgenet
Mastocytoses TPSD1 disease C0024899 GeneticVariation 0.02 disgenet
Mastocytoses SPATA2 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses UBE2N disease C0024899 Biomarker 0.01 disgenet
Mastocytoses PTPN11 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses PDCD1 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses HSPG2 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses NPM1 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses TPT1 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses SST disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses HBM disease C0024899 Biomarker 0.01 disgenet
Mastocytoses CD44 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses KIR2DL4 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses RASGRP4 disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses CPA3 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses MCPH1 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses RPL17 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses TRPV1 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses TACR1 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses ABL1 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses FGFR1 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses MCAT disease C0024899 Biomarker 0.01 disgenet
Mastocytoses KRT14 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses ITGA5 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses VIP disease C0024899 Biomarker 0.01 disgenet
Mastocytoses ZMYND10 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses TLR9 disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses MITF disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses RERE disease C0024899 Biomarker 0.01 disgenet
Mastocytoses IL37 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses ITGAV disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses IL4 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses ABL2 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses SOAT1 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses TNFSF8 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses CD72 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses RPL17-C18orf32 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses IL33 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses CEACAM1 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses IDH2 disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses TNFRSF10A disease C0024899 Biomarker 0.01 disgenet
Mastocytoses SLC16A1 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses RUNX1T1 disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses TPSB2 disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses CCL26 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses TNFSF10 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses KRAS disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses IL13 disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses AR disease C0024899 Biomarker 0.01 disgenet
Mastocytoses TPM3 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses CCL2 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses TLR4 disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses MPL disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses ENPP3 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses SF3B1 disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses KIDINS220 disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses BDNF disease C0024899 Biomarker 0.01 disgenet
Mastocytoses SERPINB6 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses ALK disease C0024899 Biomarker 0.01 disgenet
Mastocytoses IL4R disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses STAT3 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses BCL2 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses CASP3 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses SLAMF8 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses RUNX2 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses NRAS disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses TLR2 disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses SNCA disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses RUNX1 disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses PDGFRB disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses IL6R disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses IKZF1 disease C0024899 GeneticVariation 0.01 disgenet
Mastocytoses BCL2L1 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses TAC1 disease C0024899 AlteredExpression 0.01 disgenet
Mastocytoses CPA4 disease C0024899 Biomarker 0.01 disgenet
Mastocytoses BCR disease C0024899 Biomarker 0.01 disgenet
Mastocytoses KITLG disease C0024899 Biomarker 0.01 disgenet
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