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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 ▼ |
|---|---|---|---|---|---|
| C3495801 | Granulomatosis with polyangiitis | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0013170 | Drug habituation | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | SLC35B3 | 51000 | solute carrier family 35 member B3 | Q9H1N7 |
| C0023890 | Liver Cirrhosis | GLT8D2 | 83468 | glycosyltransferase 8 domain containing 2 | Q9H1C3 |
| C0019196 | Hepatitis C | GLT8D2 | 83468 | glycosyltransferase 8 domain containing 2 | Q9H1C3 |
| C0003872 | Arthritis, Psoriatic | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0019156 | Hepatic Veno-Occlusive Disease | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0028738 | Nystagmus | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0432242 | Desbuquois syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C3665347 | Visual Impairment | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C1857276 | Trichohepatoenteric Syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0022680 | Polycystic Kidney Diseases | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0699885 | Carcinoma of bladder | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0023643 | Lichen disease | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0018817 | Atrial Septal Defects | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0028754 | Obesity | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C1306459 | Primary malignant neoplasm | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0011644 | Scleroderma | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0002982 | Angioid Streaks | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0029456 | Osteoporosis | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0023895 | Liver diseases | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0028326 | Noonan Syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0035305 | Retinal Detachment | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0026010 | Microphthalmos | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0019163 | Hepatitis B | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
