| Disease ID | Disease name | Source of annotation with KERA | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS121400 | CORNEA PLANA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | KERA |
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 |
| 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 |