Disease ID | Disease name | Source of annotation with DSE | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
615539 | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | DSE |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate | hsa00532 | 8.45 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
Chondroitin sulfate/dermatan sulfate metabolism | R-HSA-1793185 | 7.34 |
Metabolism | R-HSA-1430728 | 2.34 |
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
Dermatan sulfate biosynthesis | R-HSA-2022923 | 9.52 |
GO term | GO ID | GO IC |
---|---|---|
racemase and epimerase activity, acting on carbohydrates and derivatives | GO:0016857 | 7.44 |
racemase and epimerase activity | GO:0016854 | 6.97 |
chondroitin-glucuronate 5-epimerase activity | GO:0047757 | 9.05 |
isomerase activity | GO:0016853 | 4.62 |
catalytic activity | GO:0003824 | 1.05 |