Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Connective Tissue Diseases NOTCH1 group C0009782 GeneticVariation 0.4 disgenet
Connective Tissue Diseases NOTCH1 group C0009782 Biomarker 0.4 disgenet
Connective Tissue Diseases COL9A2 group C0009782 GeneticVariation 0.31 disgenet
Connective Tissue Diseases PRDM5 group C0009782 Biomarker 0.31 disgenet
Connective Tissue Diseases PRDM5 group C0009782 GeneticVariation 0.31 disgenet
Connective Tissue Diseases COL9A2 group C0009782 Biomarker 0.31 disgenet
Connective Tissue Diseases PKD1 group C0009782 Biomarker 0.31 disgenet
Connective Tissue Diseases PKD1 group C0009782 GeneticVariation 0.31 disgenet
Connective Tissue Diseases FLCN group C0009782 Biomarker 0.3 disgenet
Connective Tissue Diseases COL11A2 group C0009782 Biomarker 0.3 disgenet
Connective Tissue Diseases ACVR1 group C0009782 Biomarker 0.3 disgenet
Connective Tissue Diseases ZNF469 group C0009782 Biomarker 0.3 disgenet
Connective Tissue Diseases TPSAB1 group C0009782 Biomarker 0.3 disgenet
Connective Tissue Diseases SLC39A13 group C0009782 Biomarker 0.3 disgenet
Connective Tissue Diseases PKD2 group C0009782 Biomarker 0.3 disgenet
Connective Tissue Diseases PIEZO2 group C0009782 Biomarker 0.3 disgenet
Connective Tissue Diseases COL9A3 group C0009782 Biomarker 0.3 disgenet
Connective Tissue Diseases FBN1 group C0009782 GeneticVariation 0.2 disgenet
Connective Tissue Diseases FBN1 group C0009782 Biomarker 0.2 disgenet
Connective Tissue Diseases FBN1 group C0009782 CausalMutation 0.2 disgenet
Connective Tissue Diseases TGFBR2 group C0009782 GeneticVariation 0.15 disgenet
Connective Tissue Diseases TGFBR2 group C0009782 CausalMutation 0.15 disgenet
Connective Tissue Diseases TGFBR2 group C0009782 Biomarker 0.15 disgenet
Connective Tissue Diseases COL5A1 group C0009782 GeneticVariation 0.11 disgenet
Connective Tissue Diseases COL11A1 group C0009782 GeneticVariation 0.1 disgenet
Connective Tissue Diseases STAMBPL1 group C0009782 CausalMutation 0.1 disgenet
Connective Tissue Diseases ACTA2 group C0009782 CausalMutation 0.1 disgenet
Connective Tissue Diseases COL5A2 group C0009782 GeneticVariation 0.1 disgenet
Connective Tissue Diseases SMAD3 group C0009782 CausalMutation 0.1 disgenet
Connective Tissue Diseases COL2A1 group C0009782 GeneticVariation 0.1 disgenet
Connective Tissue Diseases COL3A1 group C0009782 GeneticVariation 0.08 disgenet
Connective Tissue Diseases TRIM21 group C0009782 Biomarker 0.07 disgenet
Connective Tissue Diseases TGFBR1 group C0009782 GeneticVariation 0.05 disgenet
Connective Tissue Diseases TGFBR1 group C0009782 Biomarker 0.05 disgenet
Connective Tissue Diseases COL1A2 group C0009782 GeneticVariation 0.04 disgenet
Connective Tissue Diseases COL1A2 group C0009782 Biomarker 0.04 disgenet
Connective Tissue Diseases TNXB group C0009782 Biomarker 0.03 disgenet
Connective Tissue Diseases RNPC3 group C0009782 Biomarker 0.03 disgenet
Connective Tissue Diseases SNRNP70 group C0009782 Biomarker 0.03 disgenet
Connective Tissue Diseases PAH group C0009782 Biomarker 0.03 disgenet
Connective Tissue Diseases PAH group C0009782 GeneticVariation 0.03 disgenet
Connective Tissue Diseases MS4A1 group C0009782 Biomarker 0.03 disgenet
Connective Tissue Diseases ELN group C0009782 GeneticVariation 0.03 disgenet
Connective Tissue Diseases ELN group C0009782 Biomarker 0.03 disgenet
Connective Tissue Diseases B3GALT6 group C0009782 GeneticVariation 0.03 disgenet
Connective Tissue Diseases TNXB group C0009782 AlteredExpression 0.03 disgenet
Connective Tissue Diseases RNPC3 group C0009782 AlteredExpression 0.03 disgenet
Connective Tissue Diseases B3GALT6 group C0009782 Biomarker 0.03 disgenet
Connective Tissue Diseases KRT20 group C0009782 Biomarker 0.03 disgenet
Connective Tissue Diseases PSIP1 group C0009782 Biomarker 0.03 disgenet
Connective Tissue Diseases DCN group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases PDCD1 group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases MUC1 group C0009782 AlteredExpression 0.02 disgenet
Connective Tissue Diseases MUC1 group C0009782 Biomarker 0.02 disgenet
Connective Tissue Diseases COL1A1 group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases CSF3 group C0009782 Biomarker 0.02 disgenet
Connective Tissue Diseases TGFB2 group C0009782 Biomarker 0.02 disgenet
Connective Tissue Diseases PDCD1 group C0009782 Biomarker 0.02 disgenet
Connective Tissue Diseases TGFB2 group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases FN1 group C0009782 Biomarker 0.02 disgenet
Connective Tissue Diseases FOXP3 group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases COPD group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases TNF group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases CSF3 group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases CYP3A5 group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases MMRN1 group C0009782 Biomarker 0.02 disgenet
Connective Tissue Diseases PTPN22 group C0009782 Biomarker 0.02 disgenet
Connective Tissue Diseases COX8A group C0009782 Biomarker 0.02 disgenet
Connective Tissue Diseases CRP group C0009782 Biomarker 0.02 disgenet
Connective Tissue Diseases FOXP3 group C0009782 AlteredExpression 0.02 disgenet
Connective Tissue Diseases TGFB1 group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases LOX group C0009782 AlteredExpression 0.02 disgenet
Connective Tissue Diseases PLOD2 group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases TGFB1 group C0009782 Biomarker 0.02 disgenet
Connective Tissue Diseases FBN2 group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases HLA-DRB1 group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases HLA-DRB1 group C0009782 Biomarker 0.02 disgenet
Connective Tissue Diseases FN1 group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases LOX group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases MMRN1 group C0009782 GeneticVariation 0.02 disgenet
Connective Tissue Diseases ROCK2 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases DDX21 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases CDKN2A group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases MUC5B group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases RIEG2 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases DDX19A group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases PARN group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases ADRB3 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases ALDH18A1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases PVR group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases RTEL1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases SAFB group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases S100A9 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases CEBPB group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases P4HA1 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases SLC2A10 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases SUB1 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases RPL17-C18orf32 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases SLURP1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases SLC2A11 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases PLF group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases TERT group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases RTCA group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases MAP3K7 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases BMPR2 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases AEBP1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases CDH11 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases POP1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases ABCC2 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases WNT9B group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases MMP1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases ADM group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases FKBP14 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases ADIPOQ group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases RARRES2 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases LAMTOR2 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases CD34 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases LUM group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases IFIH1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases ABCC6 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases CDK2AP2 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases BTG3 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases B4GALT7 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases PLOD1 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases MAPK8 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases ATP7A group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases PCYT1A group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases KLHL1 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases EMILIN1 group C0009782 GeneticVariation 0.01 orphanet , disgenet
Connective Tissue Diseases VDAC1 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases NOS3 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases CASP5 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases CYP3A4 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases HLA-B group C0009782 Biomarker 0.01 orphanet , disgenet
Connective Tissue Diseases FKBP10 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases GLB1 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases RPP14 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases ADAMTS10 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases HPRT1 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases TNMD group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases STAT4 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases WG group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases ACE group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases ADAM17 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases TP53 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases H3P8 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases CASP1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases IL13 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases JAK2 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases SYCE1L group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases CERNA3 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases F8 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases HLA-A group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases SERPING1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases CD22 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases SERPINH1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases SCGB1A1 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases SSB group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases STAT3 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases SNCA group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases IL6 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases POLR3A group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases BPIFB1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases PPARG group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases TERC group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases TSSK2 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases PLOD3 group C0009782 GeneticVariation 0.01 orphanet , disgenet
Connective Tissue Diseases IL10 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases SF3B6 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases FLNA group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases KERA group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases S100A12 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases HP group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases MIR200C group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases SEMA6A group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases SPATA2 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases ALB group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases SRY group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases MPO group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases PSS group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases CRTAP group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases CAST group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases IL19 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases CHD4 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases DHX16 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases TAB2 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases VWF group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases RBM45 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases RPL17 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases HT group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases EDS8 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases ADAMTS13 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases CXCL8 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases DCPS group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases DDX46 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases LSM2 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases RETN group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases ADAMTS2 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases MBP group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases SCP2 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases RIN2 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases MFAP1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases LEP group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases CX3CL1 group C0009782 AlteredExpression 0.01 disgenet
Connective Tissue Diseases SPR group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases WNT9A group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases EFEMP1 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases CBSL group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases COL8A2 group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases ACVRL1 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases IL17A group C0009782 Biomarker 0.01 disgenet
Connective Tissue Diseases ABCB1 group C0009782 GeneticVariation 0.01 disgenet
Connective Tissue Diseases CBS group C0009782 GeneticVariation 0.01 disgenet
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