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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 |
|---|---|---|---|---|---|
| C1970827 | Phosphoribosylpyrophosphate Synthetase Superactivity | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1844678 | Progressive hearing loss stapes fixation | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C4551551 | X-linked hereditary motor and sensory neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0494475 | Tonic - clonic seizures | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0027651 | Neoplasms | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0006826 | Malignant Neoplasms | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0023452 | Childhood Acute Lymphoblastic Leukemia | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0029132 | Disorder of the optic nerve | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0006142 | Malignant neoplasm of breast | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0025517 | Metabolic Diseases | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1621958 | Glioblastoma Multiforme | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0520947 | Clumsiness - motor delay | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C4721453 | Peripheral Nervous System Diseases | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0015310 | Exotropia | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0036572 | Seizures | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C2239176 | Liver carcinoma | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0021051 | Immunologic Deficiency Syndromes | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0007097 | Carcinoma | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1306459 | Primary malignant neoplasm | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0520680 | Sleep Apnea, Central | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0740394 | Hyperuricemia | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0033300 | Progeria | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0011848 | Diabetes Insipidus | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1852767 | Hereditary macular coloboma | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
