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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0023903 | Liver neoplasms | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0376358 | Malignant neoplasm of prostate | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0345904 | Malignant neoplasm of liver | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0006826 | Malignant Neoplasms | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0007113 | Rectal Carcinoma | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C2711227 | Steatohepatitis | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0015695 | Fatty Liver | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0020456 | Hyperglycemia | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0011847 | Diabetes | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C2239176 | Liver carcinoma | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
| C0027651 | Neoplasms | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
