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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 | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0027888 | Hereditary Motor and Sensory Neuropathies | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0028754 | Obesity | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0043395 | Yellow Fever | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C2937421 | Prostatic Hyperplasia | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0018801 | Heart failure | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C3714756 | Intellectual Disability | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0027066 | Myoclonus | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0036439 | Scoliosis, unspecified | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0025362 | Mental Retardation | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0085681 | Hyperphosphatemia (disorder) | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0004903 | Beckwith-Wiedemann Syndrome | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0036857 | Severe intellectual disability | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0020295 | Hydronephrosis | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0006826 | Malignant Neoplasms | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0039446 | Telangiectasis | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0494475 | Tonic - clonic seizures | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0020490 | Hyperopia | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0585442 | Osteosarcoma of bone | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0221356 | Brachycephaly | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C1306459 | Primary malignant neoplasm | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0029463 | Osteosarcoma | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0014877 | Esotropia | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C1384666 | hearing impairment | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0019569 | Hirschsprung Disease | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
