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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol | Gene ID ▼ | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0009363 | Congenital ocular coloboma (disorder) | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0020757 | Ichthyoses | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0036439 | Scoliosis, unspecified | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0005745 | Blepharoptosis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0085669 | Acute leukemia | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0040761 | Transposition of Great Vessels | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0432333 | Abnormal dermatoglyphic pattern | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0494475 | Tonic - clonic seizures | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0036341 | Schizophrenia | CHST10 | 9486 | carbohydrate sulfotransferase 10 | O43529 |
| C0011311 | Dengue Fever | CHST10 | 9486 | carbohydrate sulfotransferase 10 | O43529 |
| C1857276 | Trichohepatoenteric Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0011847 | Diabetes | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0006142 | Malignant neoplasm of breast | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0029456 | Osteoporosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0432242 | Desbuquois syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0020490 | Hyperopia | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1384514 | Conn Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1837657 | Spondyloepiphyseal dysplasia, Omani type | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0027651 | Neoplasms | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0342471 | 3 beta-Hydroxysteroid dehydrogenase deficiency | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0038015 | Spondyloepiphyseal Dysplasia | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0020538 | Hypertensive disease | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0003850 | Arteriosclerosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0016202 | Flatfoot | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0476089 | Endometrial Carcinoma | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
