| Disease ID | Disease name | Source of annotation with LCT | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 223000 | LACTASE DEFICIENCY, CONGENITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | LCT |
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 |
| 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 |
| lactase activity | GO:0000016 | 9.74 |
| glycosylceramidase activity | GO:0017042 | 9.05 |
| hydrolase activity | GO:0016787 | 1.9 |
| hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
| beta-glucosidase activity | GO:0008422 | 7.95 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |