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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 |
|---|---|---|---|---|---|
| C3888018 | Congenital Hyperinsulinism | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0525045 | Mood Disorders | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0003811 | Cardiac Arrhythmia | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0007193 | Cardiomyopathy, Dilated | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0678213 | Complete hydatidiform mole | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0003872 | Arthritis, Psoriatic | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0027651 | Neoplasms | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0037274 | Dermatologic disorders | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0001418 | Adenocarcinoma | PFKP | 5214 | phosphofructokinase, platelet | Q01813 |
| C0006826 | Malignant Neoplasms | PFKP | 5214 | phosphofructokinase, platelet | Q01813 |
| C0001126 | Renal tubular acidosis | PFKP | 5214 | phosphofructokinase, platelet | Q01813 |
| C0028754 | Obesity | PFKP | 5214 | phosphofructokinase, platelet | Q01813 |
| C0027651 | Neoplasms | PFKP | 5214 | phosphofructokinase, platelet | Q01813 |
| C1306459 | Primary malignant neoplasm | PFKP | 5214 | phosphofructokinase, platelet | Q01813 |
| C0345905 | Intrahepatic Cholangiocarcinoma | PFKP | 5214 | phosphofructokinase, platelet | Q01813 |
| C0235974 | Pancreatic carcinoma | PFKP | 5214 | phosphofructokinase, platelet | Q01813 |
| C0006142 | Malignant neoplasm of breast | PFKP | 5214 | phosphofructokinase, platelet | Q01813 |
| C0346647 | Malignant neoplasm of pancreas | PFKP | 5214 | phosphofructokinase, platelet | Q01813 |
| 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 |
