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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 |
|---|---|---|---|---|---|
| C0013080 | Down Syndrome | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0010068 | Coronary heart disease | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0751783 | Lafora Disease | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0017926 | Glycogen Storage Disease Type VII | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0006826 | Malignant Neoplasms | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0268634 | Disorder of fatty acid metabolism | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0002871 | Anemia | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0006142 | Malignant neoplasm of breast | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C1306459 | Primary malignant neoplasm | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0678222 | Breast Carcinoma | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0018099 | Gout | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0017636 | Glioblastoma | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0027651 | Neoplasms | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C1621958 | Glioblastoma Multiforme | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0345904 | Malignant neoplasm of liver | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0008350 | Cholelithiasis | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0017919 | Glycogen Storage Disease | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0001418 | Adenocarcinoma | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0740394 | Hyperuricemia | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0020456 | Hyperglycemia | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0001126 | Renal tubular acidosis | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C2239176 | Liver carcinoma | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0002878 | Anemia, Hemolytic | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0278878 | Adult Glioblastoma | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
