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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 |
|---|---|---|---|---|---|
| C4551472 | Hypertrophic obstructive cardiomyopathy | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0025517 | Metabolic Diseases | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0003486 | Aortic Aneurysm | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0917713 | Becker Muscular Dystrophy | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0016719 | Friedreich Ataxia | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0035232 | Respiratory Paralysis | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0009402 | Colorectal Carcinoma | LPCAT4 | 254531 | lysophosphatidylcholine acyltransferase 4 | Q643R3 |
| C0268146 | Glucose-6-phosphate transport defect | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0027947 | Neutropenia | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0011849 | Diabetes Mellitus | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0027651 | Neoplasms | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0206624 | Hepatoblastoma | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0025521 | Inborn Errors of Metabolism | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0017919 | Glycogen Storage Disease | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0342749 | GLYCOGEN STORAGE DISEASE Ic | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C1853118 | Severe congenital neutropenia | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0028754 | Obesity | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0017668 | Focal glomerulosclerosis | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0017920 | Glycogen Storage Disease Type I | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0032460 | Polycystic Ovary Syndrome | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0001125 | Acidosis, Lactic | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0023530 | Leukopenia | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0013336 | Dwarfism | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0025517 | Metabolic Diseases | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
