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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 |
|---|---|---|---|---|---|
| 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 |
| C0008925 | Cleft Palate | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0271270 | Oculovestibuloauditory syndrome | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C4014343 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0079541 | Holoprosencephaly | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0013421 | Dystonia | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0085584 | Encephalopathies | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0008489 | Chorea | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0036857 | Severe intellectual disability | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C3714756 | Intellectual Disability | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0025958 | Microcephaly | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0234533 | Generalized seizures | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C1292769 | Precursor B-cell lymphoblastic leukemia | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0520947 | Clumsiness - motor delay | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0013336 | Dwarfism | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
