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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 |
|---|---|---|---|---|---|
| C0010278 | Craniosynostosis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0010278 | Craniosynostosis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0010278 | Craniosynostosis | SFTPD | 6441 | surfactant protein D | P35247 |
| C0010278 | Craniosynostosis | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0010278 | Craniosynostosis | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0010278 | Craniosynostosis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0010278 | Craniosynostosis | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0010278 | Craniosynostosis | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0010278 | Craniosynostosis | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
| C0010278 | Craniosynostosis | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0010278 | Craniosynostosis | GPC3 | 2719 | glypican 3 | P51654 |
| C0010278 | Craniosynostosis | GPC1 | 2817 | glypican 1 | P35052 |
| C0010278 | Craniosynostosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0010278 | Craniosynostosis | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C0010278 | Craniosynostosis | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C0010278 | Craniosynostosis | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0010278 | Craniosynostosis | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0010278 | Craniosynostosis | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0010278 | Craniosynostosis | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0010278 | Craniosynostosis | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0010278 | Craniosynostosis | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0010278 | Craniosynostosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0010278 | Craniosynostosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0010278 | Craniosynostosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0010278 | Craniosynostosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
