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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 |
|---|---|---|---|---|---|
| C0011991 | Diarrhea | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0011991 | Diarrhea | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0011991 | Diarrhea | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0011991 | Diarrhea | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0011991 | Diarrhea | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0011991 | Diarrhea | SDCBP2 | 27111 | syndecan binding protein 2 | Q9H190 |
| C0011991 | Diarrhea | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0011991 | Diarrhea | HMGCS2 | 3158 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | P54868 |
| C0011991 | Diarrhea | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0011991 | Diarrhea | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0011991 | Diarrhea | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0011991 | Diarrhea | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0011991 | Diarrhea | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0011991 | Diarrhea | PRNP | 5621 | prion protein | F7VJQ1 |
| C0011991 | Diarrhea | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0019284 | Diaphragmatic Hernia | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0019284 | Diaphragmatic Hernia | DCN | 1634 | decorin | P07585 |
| C0019284 | Diaphragmatic Hernia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0019284 | Diaphragmatic Hernia | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0019284 | Diaphragmatic Hernia | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0019284 | Diaphragmatic Hernia | DSEL | 92126 | dermatan sulfate epimerase like | Q8IZU8 |
| C0019284 | Diaphragmatic Hernia | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0019284 | Diaphragmatic Hernia | SFTPC | 6440 | surfactant protein C | P11686 |
| C0011981 | Diaphragmatic Eventration | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0011981 | Diaphragmatic Eventration | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
