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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 ▼ |
|---|---|---|---|---|---|
| C0520947 | Clumsiness - motor delay | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0242379 | Malignant neoplasm of lung | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0010054 | Coronary Arteriosclerosis | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0026703 | Mucopolysaccharidoses | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0086649 | MPS III C | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0268398 | Familial lichen amyloidosis | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0085215 | Ovarian Failure, Premature | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0025322 | Premature Menopause | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0027651 | Neoplasms | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C3494522 | Hypergonadotropic Ovarian Failure, X-Linked | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0002994 | Angioedema | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C4552079 | Premature Ovarian Failure 1 | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0007847 | Malignant tumor of cervix | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0302592 | Cervix carcinoma | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0376358 | Malignant neoplasm of prostate | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0086543 | Cataract | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0456909 | Blindness | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0035334 | Retinitis Pigmentosa | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0020459 | Hyperinsulinism | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C1708349 | Hereditary Diffuse Gastric Cancer | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0038356 | Stomach Neoplasms | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C3714756 | Intellectual Disability | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0028738 | Nystagmus | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0017601 | Glaucoma | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
