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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 |
|---|---|---|---|---|---|
| C0020255 | Hydrocephalus | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0020255 | Hydrocephalus | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0020255 | Hydrocephalus | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0020255 | Hydrocephalus | CNTN5 | 53942 | contactin 5 | O94779 |
| C0020255 | Hydrocephalus | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0020255 | Hydrocephalus | SFTPD | 6441 | surfactant protein D | P35247 |
| C0020255 | Hydrocephalus | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0020255 | Hydrocephalus | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0020255 | Hydrocephalus | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0020255 | Hydrocephalus | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0020255 | Hydrocephalus | GPC3 | 2719 | glypican 3 | P51654 |
| C0020255 | Hydrocephalus | OGDH | 4967 | oxoglutarate dehydrogenase | Q02218 |
| C0020255 | Hydrocephalus | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0020255 | Hydrocephalus | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0020255 | Hydrocephalus | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0020255 | Hydrocephalus | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0020255 | Hydrocephalus | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0020255 | Hydrocephalus | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0020255 | Hydrocephalus | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0020255 | Hydrocephalus | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0020255 | Hydrocephalus | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0020255 | Hydrocephalus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0020255 | Hydrocephalus | SFTPC | 6440 | surfactant protein C | P11686 |
| C0020255 | Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0020255 | Hydrocephalus | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
