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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 |
|---|---|---|---|---|---|
| C0848558 | Hypospadias | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0079744 | Diffuse Large B-Cell Lymphoma | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0699790 | Colon Carcinoma | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C1458155 | Mammary Neoplasms | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0007102 | Malignant tumor of colon | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0006142 | Malignant neoplasm of breast | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0006826 | Malignant Neoplasms | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0017638 | Glioma | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C1306459 | Primary malignant neoplasm | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0027651 | Neoplasms | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0014553 | Absence Epilepsy | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0020490 | Hyperopia | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0221356 | Brachycephaly | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0014877 | Esotropia | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0009402 | Colorectal Carcinoma | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C1384666 | hearing impairment | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C4551675 | Keratoderma, Palmoplantar | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0027066 | Myoclonus | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0494475 | Tonic - clonic seizures | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0039446 | Telangiectasis | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0036439 | Scoliosis, unspecified | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0020295 | Hydronephrosis | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0000768 | Congenital Abnormality | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0036857 | Severe intellectual disability | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0271270 | Oculovestibuloauditory syndrome | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
