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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 ▲ |
|---|---|---|---|---|---|
| C0026010 | Microphthalmos | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0016522 | Foramen Ovale, Patent | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3279775 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0014877 | Esotropia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0005741 | Blepharitis | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0010038 | Corneal Opacity | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0010417 | Cryptorchidism | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3714581 | Multicystic Dysplastic Kidney | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0085583 | Choreoathetosis | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0013274 | Patent ductus arteriosus | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0020295 | Hydronephrosis | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0017168 | Gastroesophageal reflux disease | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0029401 | Osteitis Deformans | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| 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 |
