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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 |
|---|---|---|---|---|---|
| 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 |
| C0004364 | Autoimmune Diseases | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0020676 | Hypothyroidism | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C1833511 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0020295 | Hydronephrosis | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0524620 | Metabolic Syndrome X | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1306459 | Primary malignant neoplasm | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1565489 | Renal Insufficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1833518 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0003872 | Arthritis, Psoriatic | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1833508 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0021400 | Influenza | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0220710 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0035410 | Rhabdomyolysis | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0600139 | Prostate carcinoma | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0085584 | Encephalopathies | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0878544 | Cardiomyopathies | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
