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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 |
|---|---|---|---|---|---|
| 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 |
| C1510502 | Oxyphilic Adenoma | HYAL4 | 23553 | hyaluronidase 4 | Q2M3T9 |
| C0949541 | Hurthle Cell Tumor | HYAL4 | 23553 | hyaluronidase 4 | Q2M3T9 |
| C0010495 | Cutis Laxa | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0027092 | Myopia | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C4479409 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0852949 | Arteriopathic disease | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0007766 | Intracranial Aneurysm | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C1318518 | Infantile malignant osteopetrosis | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0432255 | Geroderma osteodysplastica | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0575158 | Kyphoscoliosis deformity of spine | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0004153 | Atherosclerosis | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0025958 | Microcephaly | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0014544 | Epilepsy | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0013336 | Dwarfism | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0014038 | Encephalitis | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
