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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 |
|---|---|---|---|---|---|
| C0019294 | Hernia, Inguinal | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0026267 | Mitral Valve Prolapse Syndrome | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C0006826 | Malignant Neoplasms | DSE | 29940 | dermatan sulfate epimerase | Q9UL01 |
| C1269683 | Major Depressive Disorder | DPY19L3 | 147991 | dpy-19 like C-mannosyltransferase 3 | Q6ZPD9 |
| C3151407 | SPERMATOGENIC FAILURE 9 | DPY19L2 | 283417 | dpy-19 like 2 | Q6NUT2 |
| C0403825 | Globozoospermia | DPY19L2 | 283417 | dpy-19 like 2 | Q6NUT2 |
| C2752007 | Congenital Disorder of Glycosylation, Type Io | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0016202 | Flatfoot | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0878544 | Cardiomyopathies | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0241005 | Creatine phosphokinase serum increased | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0026850 | Muscular Dystrophy | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0014544 | Epilepsy | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C3554385 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0241005 | Creatine phosphokinase serum increased | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0026850 | Muscular Dystrophy | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0017606 | Primary angle-closure glaucoma | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0206368 | Exfoliation Syndrome | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0020224 | Polyhydramnios | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0272375 | Antithrombin III Deficiency | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0036439 | Scoliosis, unspecified | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0017601 | Glaucoma | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0035220 | Respiratory Distress Syndrome, Newborn | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0017605 | Angle Closure Glaucoma | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0026850 | Muscular Dystrophy | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
