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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 ▼ |
|---|---|---|---|---|---|
| C0265306 | Greig cephalopolysyndactyly syndrome | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0241005 | Creatine phosphokinase serum increased | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0027651 | Neoplasms | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0027080 | Myoglobinuria | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0035410 | Rhabdomyolysis | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C1565489 | Renal Insufficiency | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0476089 | Endometrial Carcinoma | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0026848 | Myopathy | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0007103 | Malignant neoplasm of endometrium | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0346647 | Malignant neoplasm of pancreas | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0022658 | Kidney Diseases | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0010481 | Cushing Syndrome | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0027651 | Neoplasms | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0006142 | Malignant neoplasm of breast | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0011884 | Diabetic Retinopathy | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C4520821 | Stage 0 Breast Cancer AJCC v6 and v7 | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0042384 | Vasculitis | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0700095 | Central neuroblastoma | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0035309 | Retinal Diseases | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0019196 | Hepatitis C | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0011847 | Diabetes | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0014175 | Endometriosis | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0015695 | Fatty Liver | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
