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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 |
|---|---|---|---|---|---|
| C0431399 | Familial aplasia of the vermis | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0007102 | Malignant tumor of colon | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0026850 | Muscular Dystrophy | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0002736 | Amyotrophic Lateral Sclerosis | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0278878 | Adult Glioblastoma | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0017636 | Glioblastoma | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0013080 | Down Syndrome | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0005586 | Bipolar Disorder | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C3809824 | PARKINSON DISEASE 20, EARLY-ONSET | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0025958 | Microcephaly | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0036572 | Seizures | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0002395 | Alzheimer's Disease | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0242422 | Parkinsonian Disorders | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0006012 | Borderline Personality Disorder | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| 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 |
