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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 ▲ |
|---|---|---|---|---|---|
| C0015526 | Factor XII Deficiency | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C1527366 | Salaam Seizures | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0013384 | Dyskinetic syndrome | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0684276 | Hypsarrhythmia | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0854723 | Retinal Dystrophies | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0751495 | Seizures, Focal | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0038273 | Stereotypic Movement Disorder | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0011581 | Depressive disorder | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0282577 | Congenital Disorders of Glycosylation | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C1306459 | Primary malignant neoplasm | B4GALNT4 | 338707 | beta-1,4-N-acetyl-galactosaminyltransferase 4 | Q76KP1 |
| C1140680 | Malignant neoplasm of ovary | B4GALNT4 | 338707 | beta-1,4-N-acetyl-galactosaminyltransferase 4 | Q76KP1 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C3463824 | MYELODYSPLASTIC SYNDROME | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C0023449 | Acute lymphocytic leukemia | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C0036341 | Schizophrenia | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C0376545 | Hematologic Neoplasms | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C0023467 | Leukemia, Myelocytic, Acute | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C1269683 | Major Depressive Disorder | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C1956346 | Coronary Artery Disease | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C0678222 | Breast Carcinoma | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C0006142 | Malignant neoplasm of breast | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C0027651 | Neoplasms | CHST9 | 83539 | carbohydrate sulfotransferase 9 | Q7L1S5 |
| C0006142 | Malignant neoplasm of breast | CYB5R4 | 51167 | cytochrome b5 reductase 4 | Q7L1T6 |
| C0342276 | Maturity onset diabetes mellitus in young | CYB5R4 | 51167 | cytochrome b5 reductase 4 | Q7L1T6 |
