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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 |
|---|---|---|---|---|---|
| C0024790 | Paroxysmal nocturnal hemoglobinuria | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0234533 | Generalized seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0036572 | Seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0020541 | Portal Hypertension | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0270844 | Tonic Seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0270824 | Visual seizure | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0751495 | Seizures, Focal | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0234535 | Clonic Seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0018817 | Atrial Septal Defects | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0026650 | Movement Disorders | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0000768 | Congenital Abnormality | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0020224 | Polyhydramnios | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| 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 |
