| Disease ID | Disease name | Source of annotation with SI | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 222900 | SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SI |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Carbohydrate digestion and absorption | hsa04973 | 7.28 |
| Galactose metabolism | hsa00052 | 7.72 |
| Starch and sucrose metabolism | hsa00500 | 6.91 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Intestinal saccharidase deficiencies | R-HSA-5659898 | 11.98 |
| Diseases of carbohydrate metabolism | R-HSA-5663084 | 8.28 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Disease | R-HSA-1643685 | 3.33 |
| Digestion of dietary carbohydrate | R-HSA-189085 | 10.18 |
| GO term | GO ID | GO IC |
|---|---|---|
| glucosidase activity | GO:0015926 | 7.1 |
| hydrolase activity | GO:0016787 | 1.9 |
| sucrose alpha-glucosidase activity | GO:0004575 | 9.74 |
| hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
| carbohydrate binding | GO:0030246 | 4.17 |
| alpha-glucosidase activity | GO:0090599 | 7.95 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| oligo-1,6-glucosidase activity | GO:0004574 | 9.05 |
| hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |
| alpha-1,4-glucosidase activity | GO:0004558 | 8.35 |
| beta-fructofuranosidase activity | GO:0004564 | 9.74 |