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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 |
|---|---|---|---|---|---|
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0035258 | Restless Legs Syndrome | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0006826 | Malignant Neoplasms | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0009319 | Colitis | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0013080 | Down Syndrome | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0018802 | Congestive heart failure | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0005684 | Malignant neoplasm of urinary bladder | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0005695 | Bladder Neoplasm | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0155626 | Acute myocardial infarction | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0019158 | Hepatitis | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0699885 | Carcinoma of bladder | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| 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 |
