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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 |
|---|---|---|---|---|---|
| C0236773 | Depressed bipolar I disorder | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0520966 | Abnormal coordination | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0024776 | Maple Syrup Urine Disease | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0006142 | Malignant neoplasm of breast | LDHAL6B | 92483 | lactate dehydrogenase A like 6B | Q9BYZ2 |
| C0678222 | Breast Carcinoma | LDHAL6B | 92483 | lactate dehydrogenase A like 6B | Q9BYZ2 |
| C1458155 | Mammary Neoplasms | LDHAL6B | 92483 | lactate dehydrogenase A like 6B | Q9BYZ2 |
| C0235974 | Pancreatic carcinoma | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C0027651 | Neoplasms | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C0007131 | Non-Small Cell Lung Carcinoma | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C0007102 | Malignant tumor of colon | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C0006826 | Malignant Neoplasms | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C0699790 | Colon Carcinoma | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C0025202 | melanoma | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C0009402 | Colorectal Carcinoma | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C1306459 | Primary malignant neoplasm | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C1140680 | Malignant neoplasm of ovary | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C4721610 | Carcinoma, Ovarian Epithelial | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C0677886 | Epithelial ovarian cancer | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C2239176 | Liver carcinoma | GCNT3 | 9245 | glucosaminyl (N-acetyl) transferase 3, mucin type | O95395 |
| C0027092 | Myopia | PXYLP1 | 92370 | 2-phosphoxylose phosphatase 1 | Q8TE99 |
| C0027651 | Neoplasms | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0008925 | Cleft Palate | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0238288 | Muscular Dystrophy, Facioscapulohumeral | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0026850 | Muscular Dystrophy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0266544 | Microcornea | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
