| Disease ID | Disease name | Source of annotation with ACAN | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 165800 | OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ACAN |
| 608361 | SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE | ClinVar, OMIM | link to OMIM | 1 | ACAN |
| 612813 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE | OMIM, HUMSAVAR | link to OMIM | 1 | ACAN |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Keratan sulfate degradation | R-HSA-2022857 | 9.28 |
| Keratan sulfate biosynthesis | R-HSA-2022854 | 8.18 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Keratan sulfate/keratin metabolism | R-HSA-1638074 | 7.89 |
| Defective CHST6 causes MCDC1 | R-HSA-3656225 | 9.98 |
| Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) | R-HSA-3656244 | 9.98 |
| Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| ECM proteoglycans | R-HSA-3000178 | 6.75 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| extracellular matrix structural constituent | GO:0005201 | 5.37 |
| metal ion binding | GO:0046872 | 1.41 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| carbohydrate binding | GO:0030246 | 4.17 |
| ion binding | GO:0043167 | 1.36 |
| glycosaminoglycan binding | GO:0005539 | 4.42 |
| hyaluronic acid binding | GO:0005540 | 6.6 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| structural molecule activity | GO:0005198 | 3.1 |
| calcium ion binding | GO:0005509 | 3.17 |