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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 ▲ |
|---|---|---|---|---|---|
| C0010674 | Cystic Fibrosis | GUSB | 2990 | glucuronidase beta | P08236 |
| C0001430 | Adenoma | GUSB | 2990 | glucuronidase beta | P08236 |
| C0023895 | Liver diseases | GUSB | 2990 | glucuronidase beta | P08236 |
| C0027819 | Neuroblastoma | GUSB | 2990 | glucuronidase beta | P08236 |
| C1306503 | Congenital exomphalos | GUSB | 2990 | glucuronidase beta | P08236 |
| C0238463 | Papillary thyroid carcinoma | GUSB | 2990 | glucuronidase beta | P08236 |
| C0346647 | Malignant neoplasm of pancreas | GUSB | 2990 | glucuronidase beta | P08236 |
| C0020255 | Hydrocephalus | GUSB | 2990 | glucuronidase beta | P08236 |
| C1458155 | Mammary Neoplasms | GUSB | 2990 | glucuronidase beta | P08236 |
| C3887461 | Head and Neck Carcinoma | GUSB | 2990 | glucuronidase beta | P08236 |
| C0018802 | Congestive heart failure | GUSB | 2990 | glucuronidase beta | P08236 |
| C0011847 | Diabetes | GUSB | 2990 | glucuronidase beta | P08236 |
| C0001973 | Alcoholic Intoxication, Chronic | GUSB | 2990 | glucuronidase beta | P08236 |
| C0019069 | Hemophilia A | GUSB | 2990 | glucuronidase beta | P08236 |
| 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 |
| C0018099 | Gout | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0017636 | Glioblastoma | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0027651 | Neoplasms | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
