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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 |
|---|---|---|---|---|---|
| C0041956 | Ureteral obstruction | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0006271 | Bronchiolitis | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0014544 | Epilepsy | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0011848 | Diabetes Insipidus | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1956346 | Coronary Artery Disease | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0026769 | Multiple Sclerosis | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0003850 | Arteriosclerosis | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0154830 | Proliferative diabetic retinopathy | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1535939 | Pneumocystis jiroveci pneumonia | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0042769 | Virus Diseases | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0431128 | Papillary craniopharyngioma | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0010068 | Coronary heart disease | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0023487 | Acute Promyelocytic Leukemia | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| 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 |
