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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 |
|---|---|---|---|---|---|
| C0020295 | Hydronephrosis | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0020295 | Hydronephrosis | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0020295 | Hydronephrosis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0020295 | Hydronephrosis | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0020295 | Hydronephrosis | GPC3 | 2719 | glypican 3 | P51654 |
| C0020295 | Hydronephrosis | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0020295 | Hydronephrosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0020295 | Hydronephrosis | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0020295 | Hydronephrosis | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0020295 | Hydronephrosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0020295 | Hydronephrosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0020258 | Hydrocephalus, Normal Pressure | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020258 | Hydrocephalus, Normal Pressure | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0020258 | Hydrocephalus, Normal Pressure | PRNP | 5621 | prion protein | P04156 |
| C0020258 | Hydrocephalus, Normal Pressure | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0020258 | Hydrocephalus, Normal Pressure | UMOD | 7369 | uromodulin | P07911 |
| C0020258 | Hydrocephalus, Normal Pressure | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0020258 | Hydrocephalus, Normal Pressure | PRNP | 5621 | prion protein | F7VJQ1 |
| C0020256 | Congenital Hydrocephalus | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0020256 | Congenital Hydrocephalus | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0020256 | Congenital Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0020255 | Hydrocephalus | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0020255 | Hydrocephalus | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0020255 | Hydrocephalus | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0020255 | Hydrocephalus | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
