Disease ID | Disease name | Source of annotation with CHST14 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
601776 | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CHST14 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate | hsa00532 | 8.45 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
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 |
Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
Metabolism | R-HSA-1430728 | 2.34 |
Diseases of glycosylation | R-HSA-3781865 | 6.89 |
Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
Disease | R-HSA-1643685 | 3.33 |
GO term | GO ID | GO IC |
---|---|---|
anion binding | GO:0043168 | 4.17 |
transferase activity, transferring sulfur-containing groups | GO:0016782 | 5.52 |
sulfotransferase activity | GO:0008146 | 5.77 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
N-acetylgalactosamine 4-O-sulfotransferase activity | GO:0001537 | 8.13 |
phosphate ion binding | GO:0042301 | 7.25 |