| 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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