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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 |
|---|---|---|---|---|---|
| C0018818 | Ventricular Septal Defects | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0013581 | Ectopia Lentis | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0027092 | Myopia | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0029456 | Osteoporosis | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C4225387 | SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0034152 | Henoch-Schoenlein Purpura | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0037772 | Spastic Paraplegia | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C1306459 | Primary malignant neoplasm | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0024121 | Lung Neoplasms | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0027651 | Neoplasms | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0006826 | Malignant Neoplasms | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0017636 | Glioblastoma | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0031117 | Peripheral Neuropathy | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0006142 | Malignant neoplasm of breast | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0678222 | Breast Carcinoma | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C4721453 | Peripheral Nervous System Diseases | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0400966 | Non-alcoholic Fatty Liver Disease | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0020615 | Hypoglycemia | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0238463 | Papillary thyroid carcinoma | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C1858712 | Spastic paraplegia 10, autosomal dominant | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0025202 | melanoma | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0278878 | Adult Glioblastoma | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C1621958 | Glioblastoma Multiforme | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0028754 | Obesity | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0026764 | Multiple Myeloma | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
