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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 |
|---|---|---|---|---|---|
| C0020492 | Hyperostosis | ANXA5 | 308 | annexin A5 | P08758 |
| C0020492 | Hyperostosis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0020492 | Hyperostosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0020492 | Hyperostosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0020492 | Hyperostosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0020492 | Hyperostosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0020492 | Hyperostosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0020490 | Hyperopia | FKTN | 2218 | fukutin | O75072 |
| C0020490 | Hyperopia | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0020490 | Hyperopia | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0020490 | Hyperopia | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0020490 | Hyperopia | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0020490 | Hyperopia | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0020490 | Hyperopia | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0020490 | Hyperopia | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0020490 | Hyperopia | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0020490 | Hyperopia | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0020490 | Hyperopia | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0020490 | Hyperopia | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0020490 | Hyperopia | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0020490 | Hyperopia | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0020490 | Hyperopia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0020490 | Hyperopia | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0020490 | Hyperopia | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0020490 | Hyperopia | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
