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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 |
|---|---|---|---|---|---|
| C4282398 | Sialidase deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C4282180 | Juvenile macular degeneration | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | ENO1 | 2023 | enolase 1 | P06733 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | LGALS9 | 3965 | galectin 9 | O00182 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | LGALS1 | 3956 | galectin 1 | P09382 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | LGALS3 | 3958 | galectin 3 | P17931 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | STS | 412 | steroid sulfatase | P08842 |
| 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 |
