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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 |
|---|---|---|---|---|---|
| C0018816 | Heart Septal Defects | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0039685 | Tetralogy of Fallot | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3714756 | Intellectual Disability | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C1531647 | Cerebral ventriculomegaly | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0008925 | Cleft Palate | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0271386 | Vertical Nystagmus | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0036572 | Seizures | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0023465 | Acute monocytic leukemia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0235833 | Congenital diaphragmatic hernia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0028738 | Nystagmus | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0034069 | Pulmonary Fibrosis | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0795690 | Congenital omphalocele | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0014544 | Epilepsy | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0266174 | Duodenal atresia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0376480 | Gingival Overgrowth | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C1368019 | Paget Disease | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0023467 | Leukemia, Myelocytic, Acute | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0410422 | Chronic multifocal osteomyelitis | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| 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 |
