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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 ▼ |
|---|---|---|---|---|---|
| C0027651 | Neoplasms | GDPD5 | 81544 | glycerophosphodiester phosphodiesterase domain containing 5 | Q8WTR4 |
| C0030319 | Panic Disorder | GANC | 2595 | glucosidase alpha, neutral C | Q8TET4 |
| C0002876 | Congenital dyserythropoietic anemia | GANC | 2595 | glucosidase alpha, neutral C | Q8TET4 |
| 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 |
| C0079924 | Oligohydramnios | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0003466 | Anus, Imperforate | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0008925 | Cleft Palate | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C3714756 | Intellectual Disability | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0019569 | Hirschsprung Disease | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0027092 | Myopia | PXYLP1 | 92370 | 2-phosphoxylose phosphatase 1 | Q8TE99 |
| C0699790 | Colon Carcinoma | CSGALNACT1 | 55790 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Q8TDX6 |
