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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 |
|---|---|---|---|---|---|
| C0752125 | Spinocerebellar Ataxia Type 7 | PRNP | 5621 | prion protein | F7VJQ1 |
| C0005129 | Bernard-Soulier Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
| C0036341 | Schizophrenia | PRNP | 5621 | prion protein | F7VJQ1 |
| C0030567 | Parkinson Disease | PRNP | 5621 | prion protein | F7VJQ1 |
| C0949664 | Tauopathies | PRNP | 5621 | prion protein | F7VJQ1 |
| C0752347 | Lewy Body Disease | PRNP | 5621 | prion protein | F7VJQ1 |
| C0014556 | Epilepsy, Temporal Lobe | PRNP | 5621 | prion protein | F7VJQ1 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | PRNP | 5621 | prion protein | F7VJQ1 |
| C0026848 | Myopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C3665347 | Visual Impairment | PRNP | 5621 | prion protein | F7VJQ1 |
| C0393547 | Bulbospinal Neuronopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0036572 | Seizures | PRNP | 5621 | prion protein | F7VJQ1 |
| C0011884 | Diabetic Retinopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0040997 | Trigeminal Neuralgia | PRNP | 5621 | prion protein | F7VJQ1 |
| C0028841 | Ocular Hypotension | PRNP | 5621 | prion protein | F7VJQ1 |
| C3495559 | Juvenile arthritis | PRNP | 5621 | prion protein | F7VJQ1 |
| C0021400 | Influenza | PRNP | 5621 | prion protein | F7VJQ1 |
| C0007760 | Cerebellar Diseases | PRNP | 5621 | prion protein | F7VJQ1 |
| C0393911 | Pure Autonomic Failure | PRNP | 5621 | prion protein | F7VJQ1 |
| C0235974 | Pancreatic carcinoma | PRNP | 5621 | prion protein | F7VJQ1 |
| C0031117 | Peripheral Neuropathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0027126 | Myotonic Dystrophy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751785 | Unverricht-Lundborg Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
| C0025202 | melanoma | PRNP | 5621 | prion protein | F7VJQ1 |
| C0263912 | Rotator cuff syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
