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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 ▼ |
|---|---|---|---|---|---|
| C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | CNTN5 | 53942 | contactin 5 | O94779 |
| C1263846 | Attention deficit hyperactivity disorder | CNTN5 | 53942 | contactin 5 | O94779 |
| C0020538 | Hypertensive disease | CNTN5 | 53942 | contactin 5 | O94779 |
| C0041696 | Unipolar Depression | CNTN5 | 53942 | contactin 5 | O94779 |
| C0020255 | Hydrocephalus | CNTN5 | 53942 | contactin 5 | O94779 |
| C0004238 | Atrial Fibrillation | CNTN5 | 53942 | contactin 5 | O94779 |
| 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 |
| C0020490 | Hyperopia | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0017601 | Glaucoma | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0000768 | Congenital Abnormality | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0013336 | Dwarfism | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C3278404 | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0221356 | Brachycephaly | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0008925 | Cleft Palate | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
