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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 |
|---|---|---|---|---|---|
| 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 |
| C0029124 | Optic Atrophy | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0006142 | Malignant neoplasm of breast | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0086132 | Depressive Symptoms | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0684249 | Carcinoma of lung | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| C0699790 | Colon Carcinoma | SYNJ2 | 8871 | synaptojanin 2 | O15056 |
| 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 |
| C0027651 | Neoplasms | SDC1 | 6382 | syndecan 1 | P18827 |
| C0027726 | Nephrotic Syndrome | SDC1 | 6382 | syndecan 1 | P18827 |
| C0025500 | Mesothelioma | SDC1 | 6382 | syndecan 1 | P18827 |
