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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 |
|---|---|---|---|---|---|
| C0700095 | Central neuroblastoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0015695 | Fatty Liver | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0024301 | Lymphoma, Follicular | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C1332979 | Childhood Lymphoma | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| 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 |
| C0079924 | Oligohydramnios | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C1332986 | Childhood Osteosarcoma | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
