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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 ▼ |
|---|---|---|---|---|---|
| C0520680 | Sleep Apnea, Central | AGRN | 375790 | agrin | O00468 |
| C0017168 | Gastroesophageal reflux disease | AGRN | 375790 | agrin | O00468 |
| C1276035 | Pena-Shokeir syndrome type I | AGRN | 375790 | agrin | O00468 |
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | AGRN | 375790 | agrin | O00468 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | AGRN | 375790 | agrin | O00468 |
| C4082299 | Bulbar palsy | AGRN | 375790 | agrin | O00468 |
| C0029089 | Ophthalmoplegia | AGRN | 375790 | agrin | O00468 |
| C0271683 | Polyneuropathy, Motor | AGRN | 375790 | agrin | O00468 |
| C1850792 | Congenital myasthenic syndrome ib | AGRN | 375790 | agrin | O00468 |
| C0520679 | Sleep Apnea, Obstructive | AGRN | 375790 | agrin | O00468 |
| C0006826 | Malignant Neoplasms | AGRN | 375790 | agrin | O00468 |
| C3714756 | Intellectual Disability | AGRN | 375790 | agrin | O00468 |
| C0520947 | Clumsiness - motor delay | AGRN | 375790 | agrin | O00468 |
| C1879321 | Acute Myeloid Leukemia (AML-M2) | AGRN | 375790 | agrin | O00468 |
| C0020224 | Polyhydramnios | AGRN | 375790 | agrin | O00468 |
| C0575158 | Kyphoscoliosis deformity of spine | AGRN | 375790 | agrin | O00468 |
| C0751401 | Ophthalmoparesis | AGRN | 375790 | agrin | O00468 |
| C0005745 | Blepharoptosis | AGRN | 375790 | agrin | O00468 |
| C0015469 | Facial paralysis | AGRN | 375790 | agrin | O00468 |
| C4048196 | beta-Mannosidosis | MANBA | 4126 | mannosidase beta | O00462 |
| C1384666 | hearing impairment | MANBA | 4126 | mannosidase beta | O00462 |
| C0002985 | Angiokeratoma | MANBA | 4126 | mannosidase beta | O00462 |
| C0004096 | Asthma | MANBA | 4126 | mannosidase beta | O00462 |
| C0085078 | Lysosomal Storage Diseases | MANBA | 4126 | mannosidase beta | O00462 |
| C0028738 | Nystagmus | MANBA | 4126 | mannosidase beta | O00462 |
