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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 ▲ |
|---|---|---|---|---|---|
| C0027819 | Neuroblastoma | GFRA2 | 2675 | GDNF family receptor alpha 2 | O00451 |
| C0346647 | Malignant neoplasm of pancreas | GFRA2 | 2675 | GDNF family receptor alpha 2 | O00451 |
| C2239176 | Liver carcinoma | GFRA2 | 2675 | GDNF family receptor alpha 2 | O00451 |
| 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 |
| C0009402 | Colorectal Carcinoma | MANBA | 4126 | mannosidase beta | O00462 |
| C0026769 | Multiple Sclerosis | MANBA | 4126 | mannosidase beta | O00462 |
| C0494475 | Tonic - clonic seizures | MANBA | 4126 | mannosidase beta | O00462 |
| C1527304 | Allergic Reaction | MANBA | 4126 | mannosidase beta | O00462 |
| C0027765 | nervous system disorder | MANBA | 4126 | mannosidase beta | O00462 |
| C0008312 | Primary biliary cirrhosis | MANBA | 4126 | mannosidase beta | O00462 |
| C0036202 | Sarcoidosis | MANBA | 4126 | mannosidase beta | O00462 |
| C0036572 | Seizures | MANBA | 4126 | mannosidase beta | O00462 |
| C1561643 | Chronic Kidney Diseases | MANBA | 4126 | mannosidase beta | O00462 |
| C0002986 | Fabry Disease | MANBA | 4126 | mannosidase beta | O00462 |
| C0037822 | Speech Disorders | MANBA | 4126 | mannosidase beta | O00462 |
| C1263846 | Attention deficit hyperactivity disorder | MANBA | 4126 | mannosidase beta | O00462 |
| C3714756 | Intellectual Disability | MANBA | 4126 | mannosidase beta | O00462 |
| C0008313 | Cholangitis, Sclerosing | MANBA | 4126 | mannosidase beta | O00462 |
| C0009806 | Constipation | MANBA | 4126 | mannosidase beta | O00462 |
| C3808739 | MYASTHENIC SYNDROME, CONGENITAL, 8 | AGRN | 375790 | agrin | O00468 |
