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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 |
|---|---|---|---|---|---|
| C0013336 | Dwarfism | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0005745 | Blepharoptosis | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0013384 | Dyskinetic syndrome | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0497327 | Dementia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0494475 | Tonic - clonic seizures | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0011265 | Presenile dementia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0027066 | Myoclonus | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0002736 | Amyotrophic Lateral Sclerosis | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0028738 | Nystagmus | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C1621958 | Glioblastoma Multiforme | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0017636 | Glioblastoma | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0276496 | Familial Alzheimer Disease (FAD) | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0431399 | Familial aplasia of the vermis | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0684276 | Hypsarrhythmia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0020608 | Hypodontia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C3665347 | Visual Impairment | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0278878 | Adult Glioblastoma | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0027819 | Neuroblastoma | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0004352 | Autistic Disorder | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0026850 | Muscular Dystrophy | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0035334 | Retinitis Pigmentosa | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0700095 | Central neuroblastoma | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0241005 | Creatine phosphokinase serum increased | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C3463992 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C1263846 | Attention deficit hyperactivity disorder | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
