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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 |
|---|---|---|---|---|---|
| C0019880 | Homocystinuria | PEMT | 10400 | phosphatidylethanolamine N-methyltransferase | Q9UBM1 |
| C0751202 | Cystathionine beta-Synthase Deficiency Disease | PEMT | 10400 | phosphatidylethanolamine N-methyltransferase | Q9UBM1 |
| C0038356 | Stomach Neoplasms | PFKFB1 | 5207 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 | P16118 |
| C0020459 | Hyperinsulinism | PFKFB1 | 5207 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 | P16118 |
| C0027651 | Neoplasms | PFKFB1 | 5207 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 | P16118 |
| C0006826 | Malignant Neoplasms | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C1621958 | Glioblastoma Multiforme | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C0038356 | Stomach Neoplasms | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C0017636 | Glioblastoma | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C0015934 | Fetal Growth Retardation | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C1306459 | Primary malignant neoplasm | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C0023452 | Childhood Acute Lymphoblastic Leukemia | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C0278878 | Adult Glioblastoma | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C0006142 | Malignant neoplasm of breast | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C0585442 | Osteosarcoma of bone | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C0025202 | melanoma | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C0029463 | Osteosarcoma | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PFKFB2 | 5208 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | O60825 |
| C0699791 | Stomach Carcinoma | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C1332986 | Childhood Osteosarcoma | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C0027651 | Neoplasms | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C0006826 | Malignant Neoplasms | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C0278878 | Adult Glioblastoma | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C1306459 | Primary malignant neoplasm | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
| C0152013 | Adenocarcinoma of lung (disorder) | PFKFB3 | 5209 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | Q16875 |
