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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 |
|---|---|---|---|---|---|
| C1956257 | Pulmonary Stenosis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0031117 | Peripheral Neuropathy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0003469 | Anxiety Disorders | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0024236 | Lymphedema | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0948896 | Primary hypogonadism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0002395 | Alzheimer's Disease | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0015695 | Fatty Liver | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C4317224 | Congenital disorder of glycosylation type 1q | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0010417 | Cryptorchidism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0025517 | Metabolic Diseases | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0036341 | Schizophrenia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0020676 | Hypothyroidism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0027726 | Nephrotic Syndrome | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0349653 | Congenital disorder of glycosylation type 1A | PMM1 | 5372 | phosphomannomutase 1 | Q92871 |
| C0019189 | Hepatitis, Chronic | PMM1 | 5372 | phosphomannomutase 1 | Q92871 |
| C0024121 | Lung Neoplasms | PLPP5 | 84513 | phospholipid phosphatase 5 | Q8NEB5 |
| C1269683 | Major Depressive Disorder | PLPP5 | 84513 | phospholipid phosphatase 5 | Q8NEB5 |
| C2239176 | Liver carcinoma | PLPP5 | 84513 | phospholipid phosphatase 5 | Q8NEB5 |
| C0006142 | Malignant neoplasm of breast | PLPP5 | 84513 | phospholipid phosphatase 5 | Q8NEB5 |
| C0684249 | Carcinoma of lung | PLPP5 | 84513 | phospholipid phosphatase 5 | Q8NEB5 |
| C0027651 | Neoplasms | PLPP5 | 84513 | phospholipid phosphatase 5 | Q8NEB5 |
| C0242379 | Malignant neoplasm of lung | PLPP5 | 84513 | phospholipid phosphatase 5 | Q8NEB5 |
| C0149925 | Small cell carcinoma of lung | PLPP5 | 84513 | phospholipid phosphatase 5 | Q8NEB5 |
| C0281361 | Adenocarcinoma of pancreas | PLPP5 | 84513 | phospholipid phosphatase 5 | Q8NEB5 |
| C1458155 | Mammary Neoplasms | PLPP5 | 84513 | phospholipid phosphatase 5 | Q8NEB5 |
