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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 |
|---|---|---|---|---|---|
| C0342751 | Generalized glycogen storage disease of infants | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1856303 | GSD IV, Neuromuscular Form, Fatal Perinatal | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1861172 | Venous Thromboembolism | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C1306459 | Primary malignant neoplasm | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C0007570 | Celiac Disease | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C4721610 | Carcinoma, Ovarian Epithelial | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C1140680 | Malignant neoplasm of ovary | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C0006826 | Malignant Neoplasms | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
| C0342642 | Autosomal dominant hypophosphatemic rickets | GALNT8 | 26290 | polypeptide N-acetylgalactosaminyltransferase 8 | Q9NY28 |
| C0025517 | Metabolic Diseases | GALNT8 | 26290 | polypeptide N-acetylgalactosaminyltransferase 8 | Q9NY28 |
| C0019196 | Hepatitis C | GALNT8 | 26290 | polypeptide N-acetylgalactosaminyltransferase 8 | Q9NY28 |
| C0013384 | Dyskinetic syndrome | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0017205 | Gaucher Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1961835 | Gaucher Disease, Type 1 | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0025958 | Microcephaly | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0752347 | Lewy Body Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0079744 | Diffuse Large B-Cell Lymphoma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0030567 | Parkinson Disease | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1332201 | Adult Diffuse Large B-Cell Lymphoma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0268251 | Gaucher Disease, Type 3 (disorder) | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0009806 | Constipation | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0524851 | Neurodegenerative Disorders | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0085078 | Lysosomal Storage Diseases | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0020224 | Polyhydramnios | GBA | 2629 | glucosylceramidase beta | P04062 |
