Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Exophthalmos TSHR disease C0015300 Biomarker 0.13 disgenet
Exophthalmos TSHR disease C0015300 AlteredExpression 0.13 disgenet
Exophthalmos FGFR2 disease C0015300 GeneticVariation 0.12 disgenet
Exophthalmos FGFR2 disease C0015300 Biomarker 0.12 disgenet
Exophthalmos FGFR2 disease C0015300 CausalMutation 0.12 disgenet
Exophthalmos ALG1 disease C0015300 GeneticVariation 0.1 disgenet
Exophthalmos LMNA disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NFIX disease C0015300 GeneticVariation 0.1 disgenet
Exophthalmos NRAS disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SLX4 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos TCTN3 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FANCE disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NDE1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos BRAF disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PHGDH disease C0015300 Biomarker 0.1 disgenet
Exophthalmos P3H1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NIPBL disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PARS2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FANCM disease C0015300 Biomarker 0.1 disgenet
Exophthalmos B3GALT6 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos BGN disease C0015300 Biomarker 0.1 disgenet
Exophthalmos TWIST1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos GATA5 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NOTCH3 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SOS2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos DYNC1I2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NKX2-5 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos XYLT1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CLP1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos STAG2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FIG4 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FGFR1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos EXOC6B disease C0015300 Biomarker 0.1 disgenet
Exophthalmos DVL1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos TCF12 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NLRC4 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FANCG disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CKAP2L disease C0015300 Biomarker 0.1 disgenet
Exophthalmos RAD51C disease C0015300 Biomarker 0.1 disgenet
Exophthalmos UBE2T disease C0015300 Biomarker 0.1 disgenet
Exophthalmos RTTN disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NKX2-6 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos EFEMP2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PEPD disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SH3PXD2B disease C0015300 Biomarker 0.1 disgenet
Exophthalmos HUWE1 disease C0015300 CausalMutation 0.1 disgenet
Exophthalmos FGFR3 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos COG4 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos DMD disease C0015300 GeneticVariation 0.1 disgenet
Exophthalmos KCNQ1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos MYD88 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos MMP2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NAA10 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos POLD1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos WHCR disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PDGFRB disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FGFRL1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos RAD51 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CANT1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos RECQL4 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos WDR4 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PCLO disease C0015300 Biomarker 0.1 disgenet
Exophthalmos AUTS2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos COL11A2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SLC39A13 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos COL11A1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SHH disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SLC16A2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FLNB disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ALPL disease C0015300 Biomarker 0.1 disgenet
Exophthalmos COL2A1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NFIX disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ALG9 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos AFF4 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SEC24D disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SOX9 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos GATA6 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos H19-ICR disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NSD2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos KRAS disease C0015300 Biomarker 0.1 disgenet
Exophthalmos MAD2L2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos WNT5A disease C0015300 Biomarker 0.1 disgenet
Exophthalmos P4HB disease C0015300 Biomarker 0.1 disgenet
Exophthalmos XRCC2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ZIC1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PRUNE1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos HERC1 disease C0015300 GeneticVariation 0.1 disgenet
Exophthalmos SOS1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FANCC disease C0015300 Biomarker 0.1 disgenet
Exophthalmos DDR2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CPLX1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos TGFB1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CITED2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ATXN3 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos KLHL7 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos IMPAD1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos HLA-DPA1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PTPN11 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos LRP4 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos POR disease C0015300 Biomarker 0.1 disgenet
Exophthalmos TNFRSF11A disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ZMPSTE24 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos IFT81 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ZFPM2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ESCO2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FANCB disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FAM20C disease C0015300 Biomarker 0.1 disgenet
Exophthalmos HLA-DPB1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos APC disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PALB2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos TTC37 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos KCNJ6 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PDGFB disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ROR2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ABCA12 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CTBP1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ITCH disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NF2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FANCI disease C0015300 Biomarker 0.1 disgenet
Exophthalmos RRAS disease C0015300 Biomarker 0.1 disgenet
Exophthalmos RIT1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos BANF1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos B4GALT7 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos MRAS disease C0015300 Biomarker 0.1 disgenet
Exophthalmos COL1A1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FZD2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos TAF1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos TGFB3 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos GZF1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos DHCR7 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ASXL2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SKI disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NXN disease C0015300 Biomarker 0.1 disgenet
Exophthalmos RNU4ATAC disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ERCC4 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NELFA disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ASPM disease C0015300 Biomarker 0.1 disgenet
Exophthalmos VAC14 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CREBBP disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CTSK disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ERF disease C0015300 Biomarker 0.1 disgenet
Exophthalmos JAG1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos EP300 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos TGFBR2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CRTAP disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CDH11 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SUFU disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FLNA disease C0015300 Biomarker 0.1 disgenet
Exophthalmos MUSK disease C0015300 Biomarker 0.1 disgenet
Exophthalmos COL3A1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ELMO2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos BRIP1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CDKN1C disease C0015300 Biomarker 0.1 disgenet
Exophthalmos RASA2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SPECC1L disease C0015300 Biomarker 0.1 disgenet
Exophthalmos RFWD3 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos THRB disease C0015300 Biomarker 0.1 disgenet
Exophthalmos KAT6B disease C0015300 Biomarker 0.1 disgenet
Exophthalmos TBX1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PSAT1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos LETM1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FANCL disease C0015300 Biomarker 0.1 disgenet
Exophthalmos ASXL1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos A2ML1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PRTN3 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos BRCA1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SMARCB1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FBN1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos AKT1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos KCNQ1OT1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FANCD2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PPP2CA disease C0015300 Biomarker 0.1 disgenet
Exophthalmos TGFBR1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CDC45 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos DVL3 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FOXC1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos INSR disease C0015300 Biomarker 0.1 disgenet
Exophthalmos LZTR1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SMS disease C0015300 Biomarker 0.1 disgenet
Exophthalmos MATN4 disease C0015300 GeneticVariation 0.1 disgenet
Exophthalmos FANCA disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FLI1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NBAS disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PTPN22 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PTEN disease C0015300 Biomarker 0.1 disgenet
Exophthalmos IGF2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos MAFB disease C0015300 Biomarker 0.1 disgenet
Exophthalmos FANCF disease C0015300 Biomarker 0.1 disgenet
Exophthalmos HERC1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SLC29A3 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos GJA5 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SOST disease C0015300 Biomarker 0.1 disgenet
Exophthalmos H19 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SLC25A24 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos PTH1R disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CRIPT disease C0015300 Biomarker 0.1 disgenet
Exophthalmos RAF1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos SH3BP2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos GATA4 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos NLRP3 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos LRP2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CTLA4 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos BRCA2 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos CDON disease C0015300 Biomarker 0.1 disgenet
Exophthalmos GDF1 disease C0015300 Biomarker 0.1 disgenet
Exophthalmos MRD2 disease C0015300 GeneticVariation 0.02 disgenet
Exophthalmos IL6 disease C0015300 Biomarker 0.02 disgenet
Exophthalmos IL6 disease C0015300 AlteredExpression 0.02 disgenet
Exophthalmos MRD2 disease C0015300 Biomarker 0.02 disgenet
Exophthalmos IL6R disease C0015300 Biomarker 0.01 disgenet
Exophthalmos RUNX1T1 disease C0015300 Biomarker 0.01 disgenet
Exophthalmos MBD5 disease C0015300 Biomarker 0.01 disgenet
Exophthalmos NT5C3A disease C0015300 GeneticVariation 0.01 disgenet
Exophthalmos IGF1 disease C0015300 Biomarker 0.01 disgenet
Exophthalmos ABCA5 disease C0015300 Biomarker 0.01 disgenet
Exophthalmos MS4A1 disease C0015300 Biomarker 0.01 disgenet
Exophthalmos GPHB5 disease C0015300 AlteredExpression 0.01 disgenet
Exophthalmos ICAM1 disease C0015300 PosttranslationalModification 0.01 disgenet
Exophthalmos CCN2 disease C0015300 AlteredExpression 0.01 disgenet
Exophthalmos IFNA2 disease C0015300 Biomarker 0.01 disgenet
Exophthalmos KRT20 disease C0015300 Biomarker 0.01 disgenet
Exophthalmos IL13 disease C0015300 GeneticVariation 0.01 disgenet
Exophthalmos IGF1R disease C0015300 Biomarker 0.01 disgenet
Exophthalmos CTNND1 disease C0015300 Biomarker 0.01 disgenet
Exophthalmos TMX2-CTNND1 disease C0015300 Biomarker 0.01 disgenet
Exophthalmos RBM19 disease C0015300 Biomarker 0.01 disgenet
Exophthalmos IL2 disease C0015300 AlteredExpression 0.01 disgenet
Exophthalmos SST disease C0015300 Biomarker 0.01 disgenet
Exophthalmos CSE1L disease C0015300 Biomarker 0.01 disgenet
Exophthalmos COL18A1 disease C0015300 GeneticVariation 0.01 disgenet
Exophthalmos PPARG disease C0015300 GeneticVariation 0.01 disgenet
Exophthalmos BCAR1 disease C0015300 Biomarker 0.01 disgenet
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