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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 |
|---|---|---|---|---|---|
| C0017636 | Glioblastoma | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0031117 | Peripheral Neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0027819 | Neuroblastoma | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C3887709 | Optic Neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0392553 | Hereditary peripheral neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0442874 | Neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0028738 | Nystagmus | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C3665347 | Visual Impairment | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0023015 | Language Disorders | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0678222 | Breast Carcinoma | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0162429 | Malnutrition | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0034372 | Quadriplegia | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0403719 | Uric acid urolithiasis | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0013336 | Dwarfism | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0004114 | Astrocytoma | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1565489 | Renal Insufficiency | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0024141 | Lupus Erythematosus, Systemic | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C1384583 | Congenital absence of germinal epithelium of testes | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C0006826 | Malignant Neoplasms | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C1306459 | Primary malignant neoplasm | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C0028960 | Oligospermia | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
| C1306459 | Primary malignant neoplasm | PLET1 | 349633 | placenta expressed transcript 1 | Q6UQ28 |
| C0027651 | Neoplasms | PLET1 | 349633 | placenta expressed transcript 1 | Q6UQ28 |
| C0006826 | Malignant Neoplasms | PLET1 | 349633 | placenta expressed transcript 1 | Q6UQ28 |
| C0149925 | Small cell carcinoma of lung | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
