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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 |
|---|---|---|---|---|---|
| C0004096 | Asthma | GLT1D1 | 144423 | glycosyltransferase 1 domain containing 1 | Q96MS3 |
| C0010346 | Crohn Disease | LACC1 | 144811 | laccase domain containing 1 | Q8IV20 |
| C0009324 | Ulcerative Colitis | LACC1 | 144811 | laccase domain containing 1 | Q8IV20 |
| C3495559 | Juvenile arthritis | LACC1 | 144811 | laccase domain containing 1 | Q8IV20 |
| C0031046 | Pericarditis | LACC1 | 144811 | laccase domain containing 1 | Q8IV20 |
| C0003864 | Arthritis | LACC1 | 144811 | laccase domain containing 1 | Q8IV20 |
| C0021390 | Inflammatory Bowel Diseases | LACC1 | 144811 | laccase domain containing 1 | Q8IV20 |
| C0015230 | Exanthema | LACC1 | 144811 | laccase domain containing 1 | Q8IV20 |
| C0042165 | Anterior uveitis | LACC1 | 144811 | laccase domain containing 1 | Q8IV20 |
| 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 |
