Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Bloom Syndrome BLM disease C0005859 Biomarker 1 orphanet , disgenet
Bloom Syndrome BLM disease C0005859 CausalMutation 1 orphanet , disgenet
Bloom Syndrome BLM disease C0005859 GeneticVariation 1 orphanet , disgenet
Bloom Syndrome BLM disease C0005859 AlteredExpression 1 orphanet , disgenet
Bloom Syndrome UNG disease C0005859 GeneticVariation 0.35 disgenet
Bloom Syndrome UNG disease C0005859 AlteredExpression 0.35 disgenet
Bloom Syndrome UNG disease C0005859 Biomarker 0.35 disgenet
Bloom Syndrome NSMCE2 disease C0005859 Biomarker 0.2 disgenet
Bloom Syndrome LIG1 disease C0005859 AlteredExpression 0.1 disgenet
Bloom Syndrome LIG1 disease C0005859 GeneticVariation 0.1 disgenet
Bloom Syndrome WRN disease C0005859 GeneticVariation 0.1 disgenet
Bloom Syndrome LIG1 disease C0005859 Biomarker 0.1 disgenet
Bloom Syndrome WRN disease C0005859 Biomarker 0.1 disgenet
Bloom Syndrome TP53 disease C0005859 Biomarker 0.08 disgenet
Bloom Syndrome TP53 disease C0005859 GeneticVariation 0.08 disgenet
Bloom Syndrome TP53 disease C0005859 AlteredExpression 0.08 disgenet
Bloom Syndrome RECQL4 disease C0005859 Biomarker 0.05 disgenet
Bloom Syndrome RECQL4 disease C0005859 GeneticVariation 0.05 disgenet
Bloom Syndrome ATM disease C0005859 Biomarker 0.05 disgenet
Bloom Syndrome ATM disease C0005859 PosttranslationalModification 0.05 disgenet
Bloom Syndrome ATM disease C0005859 AlteredExpression 0.05 disgenet
Bloom Syndrome ATM disease C0005859 GeneticVariation 0.05 disgenet
Bloom Syndrome TOPBP1 disease C0005859 Biomarker 0.04 disgenet
Bloom Syndrome HFM1 disease C0005859 GeneticVariation 0.04 disgenet
Bloom Syndrome TOPBP1 disease C0005859 GeneticVariation 0.04 disgenet
Bloom Syndrome HFM1 disease C0005859 Biomarker 0.04 disgenet
Bloom Syndrome IL6 disease C0005859 AlteredExpression 0.03 disgenet
Bloom Syndrome NFE2L2 disease C0005859 Biomarker 0.03 disgenet
Bloom Syndrome TGFB1 disease C0005859 AlteredExpression 0.03 disgenet
Bloom Syndrome TGFB1 disease C0005859 Biomarker 0.03 disgenet
Bloom Syndrome NFE2L2 disease C0005859 AlteredExpression 0.03 disgenet
Bloom Syndrome MYC disease C0005859 AlteredExpression 0.03 disgenet
Bloom Syndrome GYPA disease C0005859 Biomarker 0.03 disgenet
Bloom Syndrome RAD51 disease C0005859 Biomarker 0.03 disgenet
Bloom Syndrome FANCM disease C0005859 Biomarker 0.03 disgenet
Bloom Syndrome IL6 disease C0005859 Biomarker 0.03 disgenet
Bloom Syndrome GYPA disease C0005859 GeneticVariation 0.03 disgenet
Bloom Syndrome GABPA disease C0005859 Biomarker 0.03 disgenet
Bloom Syndrome GABPA disease C0005859 AlteredExpression 0.03 disgenet
Bloom Syndrome FES disease C0005859 GeneticVariation 0.03 disgenet
Bloom Syndrome FANCC disease C0005859 GeneticVariation 0.03 disgenet
Bloom Syndrome GYPA disease C0005859 AlteredExpression 0.03 disgenet
Bloom Syndrome RAD51 disease C0005859 AlteredExpression 0.03 disgenet
Bloom Syndrome FANCC disease C0005859 Biomarker 0.03 disgenet
Bloom Syndrome FES disease C0005859 Biomarker 0.03 disgenet
Bloom Syndrome H2AX disease C0005859 Biomarker 0.02 disgenet
Bloom Syndrome TNF disease C0005859 Biomarker 0.02 disgenet
Bloom Syndrome TNF disease C0005859 AlteredExpression 0.02 disgenet
Bloom Syndrome MPO disease C0005859 GeneticVariation 0.02 disgenet
Bloom Syndrome MPO disease C0005859 Biomarker 0.02 disgenet
Bloom Syndrome H2AX disease C0005859 GeneticVariation 0.02 disgenet
Bloom Syndrome LBR disease C0005859 Biomarker 0.02 disgenet
Bloom Syndrome BRCA2 disease C0005859 GeneticVariation 0.02 disgenet
Bloom Syndrome DNA2 disease C0005859 GeneticVariation 0.02 disgenet
Bloom Syndrome MUS81 disease C0005859 Biomarker 0.02 disgenet
Bloom Syndrome BRCA1 disease C0005859 GeneticVariation 0.02 disgenet
Bloom Syndrome BRCA1 disease C0005859 Biomarker 0.02 disgenet
Bloom Syndrome EXO1 disease C0005859 Biomarker 0.02 disgenet
Bloom Syndrome IL17A disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome KRT10 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome CDKN1A disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome PTPRC disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome XRS disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome FEN1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome GYPE disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome IFT80 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome ALPP disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome EDNRA disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome CASP3 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome FLNB disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome MLH1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome HSPB1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome SMAD3 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome MTOR disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome FGF2 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome XPA disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome SLC12A9 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome SMN2 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome CAT disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome HPSE2 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome PRKN disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome ATHS disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome SOD1 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome SCD disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome GP1BA disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome SERPINE1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome NXF1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome MSH2 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome POLD4 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome SERPINH1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome CCL27 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome SLPI disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome PTX3 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome RIF1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome MFAP1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome DMC1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome LTBP4 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome HSPB2 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome CHEK2 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome PITX3 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome CRYGD disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome EIF4E disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome PML disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome ADAM15 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome BRIP1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome PDLIM3 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome LCS1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome PLAT disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome ASRGL1 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome MVP disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome HLA-A disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome SERPINA1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome FANCD2 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome ANKH disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome FXN disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome MDM2 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome SCN5A disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome SPIDR disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome TXN disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome CYCS disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome DDX1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome CCL2 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome LCAT disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome NOX4 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome UBE2I disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome ITGB3 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome MCPH1 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome PKM disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome ARID5A disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome VPS9D1-AS1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome CYBB disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome PLAUR disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome EIF2S1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome GYPB disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome CDA disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome HSPB3 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome SLX4 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome FN1 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome PRKAR1A disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome FOXR2 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome HIF1A disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome LIG4 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome SMR3A disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome MMP2 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome NREP disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome RAD51D disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome SOD2 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome FANCB disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome ESR1 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome CHEK2 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome ATR disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome FANCF disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome TSLP disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome SELP disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome SUMO2 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome RMI2 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome APOBEC3C disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome TOP2B disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome MS4A12 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome RAD54L disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome FGF21 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome IL4 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome TP53BP1 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome THY1 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome MFT2 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome SMN1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome TRBV20OR9-2 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome ACTB disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome NCF1 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome ATRNL1 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome USO1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome CYLD disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome APRT disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome GPR17 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome TREX1 disease C0005859 AlteredExpression 0.01 disgenet
Bloom Syndrome ITGA2B disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome SERPINB3 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome SEC14L2 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome SUMO3 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome CBL disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome TCHP disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome TNMD disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome NAT10 disease C0005859 GeneticVariation 0.01 disgenet
Bloom Syndrome SIRT1 disease C0005859 Biomarker 0.01 disgenet
Bloom Syndrome TOP3A disease C0005859 GeneticVariation 0.01 disgenet
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