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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 |
|---|---|---|---|---|---|
| C0175697 | Van der Woude syndrome | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C0162531 | Hereditary Coproporphyria | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C0002395 | Alzheimer's Disease | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C0342859 | Harderoporphyria | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C0009402 | Colorectal Carcinoma | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C3149631 | MELORHEOSTOSIS, ISOLATED | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C1321551 | Shprintzen-Goldberg syndrome | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C0494463 | Alzheimer Disease, Late Onset | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C0012236 | DiGeorge Syndrome | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C0037822 | Speech Disorders | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C1829703 | Carnitine palmitoyl transferase 1A deficiency | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0007097 | Carcinoma | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C2711227 | Steatohepatitis | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0027651 | Neoplasms | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0006142 | Malignant neoplasm of breast | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C1306459 | Primary malignant neoplasm | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0020459 | Hyperinsulinism | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0006826 | Malignant Neoplasms | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0400966 | Non-alcoholic Fatty Liver Disease | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0020473 | Hyperlipidemia | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0032460 | Polycystic Ovary Syndrome | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0003811 | Cardiac Arrhythmia | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C2239176 | Liver carcinoma | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0028754 | Obesity | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
