| Disease ID | Disease name | Source of annotation with DCN | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 610048 | CORNEAL DYSTROPHY, CONGENITAL STROMAL | OMIM | link to OMIM | 1 | DCN |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| TGF-beta signaling pathway | hsa04350 | 6.41 |
| Proteoglycans in cancer | hsa05205 | 5.02 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Defective B3GAT3 causes JDSSDHD | R-HSA-3560801 | 8.66 |
| CS/DS degradation | R-HSA-2024101 | 9.18 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Dermatan sulfate biosynthesis | R-HSA-2022923 | 9.52 |
| Chondroitin sulfate/dermatan sulfate metabolism | R-HSA-1793185 | 7.34 |
| Defective CHST14 causes EDS, musculocontractural type | R-HSA-3595174 | 9.98 |
| Defective CHSY1 causes TPBS | R-HSA-3595177 | 9.98 |
| Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
| Defective B4GALT7 causes EDS, progeroid type | R-HSA-3560783 | 8.66 |
| Defective CHST3 causes SEDCJD | R-HSA-3595172 | 9.98 |
| ECM proteoglycans | R-HSA-3000178 | 6.75 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Metabolism | R-HSA-1430728 | 2.34 |
| A tetrasaccharide linker sequence is required for GAG synthesis | R-HSA-1971475 | 8.28 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Heparan sulfate/heparin (HS-GAG) metabolism | R-HSA-1638091 | 7.2 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Chondroitin sulfate biosynthesis | R-HSA-2022870 | 8.66 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| kinase inhibitor activity | GO:0019210 | 5.25 |
| molecular function regulator | GO:0098772 | 2.51 |
| protein binding | GO:0005515 | 0.46 |
| protein N-terminus binding | GO:0047485 | 5.11 |
| protein kinase regulator activity | GO:0019887 | 4.6 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| extracellular matrix binding | GO:0050840 | 5.79 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| glycosaminoglycan binding | GO:0005539 | 4.42 |
| protein kinase inhibitor activity | GO:0004860 | 5.28 |
| protein complex binding | GO:0032403 | 3.09 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| kinase regulator activity | GO:0019207 | 4.5 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |
| collagen binding | GO:0005518 | 5.58 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| RNA binding | GO:0003723 | 2.36 |