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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 |
|---|---|---|---|---|---|
| C0262655 | Recurrent urinary tract infection | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0699790 | Colon Carcinoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1332206 | Adult Lymphoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C2239176 | Liver carcinoma | PNLIPRP3 | 119548 | pancreatic lipase related protein 3 | Q17RR3 |
| C0030305 | Pancreatitis | PNLIPRP2 | 5408 | pancreatic lipase related protein 2 (gene/pseudogene) | P54317 |
| C0001339 | Acute pancreatitis | PNLIPRP2 | 5408 | pancreatic lipase related protein 2 (gene/pseudogene) | P54317 |
| C0006142 | Malignant neoplasm of breast | PNLIPRP1 | 5407 | pancreatic lipase related protein 1 | P54315 |
| C0028754 | Obesity | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0024523 | Malabsorption Syndrome | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0017638 | Glioma | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0030305 | Pancreatitis | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0027651 | Neoplasms | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0346647 | Malignant neoplasm of pancreas | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0040034 | Thrombocytopenia | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0023467 | Leukemia, Myelocytic, Acute | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0001339 | Acute pancreatitis | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0235974 | Pancreatic carcinoma | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0038238 | Steatorrhea | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0349653 | Congenital disorder of glycosylation type 1A | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0010495 | Cutis Laxa | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0282577 | Congenital Disorders of Glycosylation | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0026650 | Movement Disorders | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0025322 | Premature Menopause | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0042798 | Low Vision | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
