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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 |
|---|---|---|---|---|---|
| C0009402 | Colorectal Carcinoma | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0235946 | Cerebral atrophy | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0265219 | Miller Dieker syndrome | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0003466 | Anus, Imperforate | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0848558 | Hypospadias | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0042580 | Vesico-Ureteral Reflux | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0019569 | Hirschsprung Disease | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0152013 | Adenocarcinoma of lung (disorder) | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0010964 | Dandy-Walker Syndrome | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0079541 | Holoprosencephaly | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3203102 | Idiopathic pulmonary arterial hypertension | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0002418 | Amblyopia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3536714 | Renal dysplasia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3463824 | MYELODYSPLASTIC SYNDROME | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| 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 |
