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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 |
|---|---|---|---|---|---|
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0011991 | Diarrhea | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0025517 | Metabolic Diseases | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0002875 | Cooley's anemia | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0278878 | Adult Glioblastoma | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0038644 | Sudden infant death syndrome | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0345904 | Malignant neoplasm of liver | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0023890 | Liver Cirrhosis | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0023467 | Leukemia, Myelocytic, Acute | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| 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 |
| C0269102 | Endometrioma | CPM | 1368 | carboxypeptidase M | P14384 |
| C0009402 | Colorectal Carcinoma | CPM | 1368 | carboxypeptidase M | P14384 |
| C0003467 | Anxiety | CPM | 1368 | carboxypeptidase M | P14384 |
| C0006826 | Malignant Neoplasms | CPM | 1368 | carboxypeptidase M | P14384 |
| C0023827 | liposarcoma | CPM | 1368 | carboxypeptidase M | P14384 |
| C0278608 | Adult Liposarcoma | CPM | 1368 | carboxypeptidase M | P14384 |
| C1306459 | Primary malignant neoplasm | CPM | 1368 | carboxypeptidase M | P14384 |
