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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 |
|---|---|---|---|---|---|
| C0342788 | Renal carnitine transport defect | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| 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 |
| 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 |
