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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 |
|---|---|---|---|---|---|
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | RECK | 8434 | reversion inducing cysteine rich protein with kazal motifs | O95980 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | FASN | 2194 | fatty acid synthase | P49327 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C4282180 | Juvenile macular degeneration | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C4282398 | Sialidase deficiency | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C4282398 | Sialidase deficiency | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C4282398 | Sialidase deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C4284594 | BAND HETEROTOPIA | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | FKTN | 2218 | fukutin | O75072 |
