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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 ▲ |
|---|---|---|---|---|---|
| C0678222 | Breast Carcinoma | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0029456 | Osteoporosis | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0015695 | Fatty Liver | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0003850 | Arteriosclerosis | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0027651 | Neoplasms | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0006826 | Malignant Neoplasms | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0243026 | Sepsis | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0034067 | Pulmonary Emphysema | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0036439 | Scoliosis, unspecified | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0004153 | Atherosclerosis | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0699790 | Colon Carcinoma | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C1306459 | Primary malignant neoplasm | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0028754 | Obesity | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0006142 | Malignant neoplasm of breast | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0009319 | Colitis | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0011334 | Dental caries | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0007102 | Malignant tumor of colon | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0002395 | Alzheimer's Disease | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0017638 | Glioma | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0585442 | Osteosarcoma of bone | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C0011581 | Depressive disorder | SGMS2 | 166929 | sphingomyelin synthase 2 | Q8NHU3 |
| C1861922 | CAMPOMELIC DYSPLASIA | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C1306459 | Primary malignant neoplasm | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0027651 | Neoplasms | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
| C0238052 | Xanthomatosis, Cerebrotendinous | B4GALNT2 | 124872 | beta-1,4-N-acetyl-galactosaminyltransferase 2 | Q8NHY0 |
