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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 |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0030567 | Parkinson Disease | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0035304 | Retinal Degeneration | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0017168 | Gastroesophageal reflux disease | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C4510873 | Atypical juvenile parkinsonism | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C1868596 | Atypical Parkinson Disease | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0013421 | Dystonia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0038220 | Status Epilepticus | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0036439 | Scoliosis, unspecified | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0234533 | Generalized seizures | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0524851 | Neurodegenerative Disorders | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0949664 | Tauopathies | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0035412 | Rhabdomyosarcoma | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C4479313 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0085584 | Encephalopathies | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0014544 | Epilepsy | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0233794 | Memory impairment | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C4048158 | Convulsions | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0235946 | Cerebral atrophy | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0426970 | Spastic Quadriplegia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| 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 |
