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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 ▲ |
|---|---|---|---|---|---|
| C0242383 | Age related macular degeneration | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0008924 | Cleft upper lip | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0796012 | Krause-Kivlin syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0010278 | Craniosynostosis | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0235946 | Cerebral atrophy | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0015397 | Disorder of eye | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0013274 | Patent ductus arteriosus | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1269683 | Major Depressive Disorder | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1956257 | Pulmonary Stenosis | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0018817 | Atrial Septal Defects | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0020255 | Hydrocephalus | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0028738 | Nystagmus | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0008925 | Cleft Palate | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0010417 | Cryptorchidism | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0271084 | Exudative age-related macular degeneration | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0080174 | Spina Bifida Occulta | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0010308 | Congenital Hypothyroidism | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0272137 | Tn Syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0266295 | Congenital hypoplasia of kidney | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0002871 | Anemia | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0003466 | Anus, Imperforate | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0086543 | Cataract | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1306503 | Congenital exomphalos | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0025958 | Microcephaly | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
