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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 ▲ |
|---|---|---|---|---|---|
| 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 |
| C2239176 | Liver carcinoma | LYZ | 4069 | lysozyme | P61626 |
| C0019624 | Histiocytosis, Non-Langerhans-Cell | LYZ | 4069 | lysozyme | P61626 |
| C0001973 | Alcoholic Intoxication, Chronic | LYZ | 4069 | lysozyme | P61626 |
| C0011847 | Diabetes | LYZ | 4069 | lysozyme | P61626 |
| C1510586 | Autism Spectrum Disorders | LYZ | 4069 | lysozyme | P61626 |
| C0004623 | Bacterial Infections | LYZ | 4069 | lysozyme | P61626 |
| C0027651 | Neoplasms | LYZ | 4069 | lysozyme | P61626 |
| C0010930 | Dacryocystitis | LYZ | 4069 | lysozyme | P61626 |
| C0156147 | Crohn's disease of large bowel | LYZ | 4069 | lysozyme | P61626 |
| C0206685 | Acinar Cell Carcinoma | LYZ | 4069 | lysozyme | P61626 |
| C0041296 | Tuberculosis | LYZ | 4069 | lysozyme | P61626 |
