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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 |
|---|---|---|---|---|---|
| C0585442 | Osteosarcoma of bone | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0029463 | Osteosarcoma | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0025517 | Metabolic Diseases | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0028754 | Obesity | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0020615 | Hypoglycemia | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C0029442 | Osteomalacia | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C3887650 | Adult Rickets | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C0039685 | Tetralogy of Fallot | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C2239176 | Liver carcinoma | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0018818 | Ventricular Septal Defects | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C1839839 | MAJOR AFFECTIVE DISORDER 2 | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0005586 | Bipolar Disorder | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0017919 | Glycogen Storage Disease | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0525045 | Mood Disorders | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0751785 | Unverricht-Lundborg Syndrome | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C1852197 | MAJOR AFFECTIVE DISORDER 1 | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| 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 |
