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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 ▲ |
|---|---|---|---|---|---|
| C0020490 | Hyperopia | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C1384666 | hearing impairment | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0018818 | Ventricular Septal Defects | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0271270 | Oculovestibuloauditory syndrome | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0041834 | Erythema | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0036572 | Seizures | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0079924 | Oligohydramnios | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0521619 | Obstruction of pelviureteric junction | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0022596 | Palmoplantar Keratosis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0020678 | Hypotrichosis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C3714756 | Intellectual Disability | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0036857 | Severe intellectual disability | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0020295 | Hydronephrosis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0235946 | Cerebral atrophy | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0010038 | Corneal Opacity | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0870082 | Hyperkeratosis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0039446 | Telangiectasis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0038379 | Strabismus | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0004936 | Mental disorders | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0009363 | Congenital ocular coloboma (disorder) | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0020757 | Ichthyoses | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0036439 | Scoliosis, unspecified | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0005745 | Blepharoptosis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0085669 | Acute leukemia | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
