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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 |
|---|---|---|---|---|---|
| C0010495 | Cutis Laxa | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0149630 | Bicuspid aortic valve | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0010278 | Craniosynostosis | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0002418 | Amblyopia | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0034951 | Refractive Errors | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0020255 | Hydrocephalus | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0027651 | Neoplasms | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C1857276 | Trichohepatoenteric Syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| 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 |
