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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 ▲ |
|---|---|---|---|---|---|
| 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 |
| C0018802 | Congestive heart failure | CNTN5 | 53942 | contactin 5 | O94779 |
| C0019569 | Hirschsprung Disease | CNTN5 | 53942 | contactin 5 | O94779 |
| C0003125 | Anorexia Nervosa | CNTN5 | 53942 | contactin 5 | O94779 |
| C0003868 | Arthritis, Gouty | CNTN5 | 53942 | contactin 5 | O94779 |
| C0005586 | Bipolar Disorder | CNTN5 | 53942 | contactin 5 | O94779 |
| C0036341 | Schizophrenia | CNTN5 | 53942 | contactin 5 | O94779 |
| C1510586 | Autism Spectrum Disorders | CNTN5 | 53942 | contactin 5 | O94779 |
| C0008312 | Primary biliary cirrhosis | CNTN5 | 53942 | contactin 5 | O94779 |
| C0265216 | X-linked hydrocephalus syndrome | CNTN5 | 53942 | contactin 5 | O94779 |
| C0018801 | Heart failure | CNTN5 | 53942 | contactin 5 | O94779 |
| C1337013 | Differentiated Thyroid Gland Carcinoma | CNTN5 | 53942 | contactin 5 | O94779 |
| C1269683 | Major Depressive Disorder | CNTN5 | 53942 | contactin 5 | O94779 |
| C0004943 | Behcet Syndrome | CNTN5 | 53942 | contactin 5 | O94779 |
