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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 |
|---|---|---|---|---|---|
| C1527366 | Salaam Seizures | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C1527366 | Salaam Seizures | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C1527366 | Salaam Seizures | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C1527366 | Salaam Seizures | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C1527366 | Salaam Seizures | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C1527366 | Salaam Seizures | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C1527366 | Salaam Seizures | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C1527383 | Morphea | DCN | 1634 | decorin | P07585 |
| C1527390 | Neoplasms, Intracranial | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C1527390 | Neoplasms, Intracranial | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C1527390 | Neoplasms, Intracranial | ARSA | 410 | arylsulfatase A | P15289 |
| C1527390 | Neoplasms, Intracranial | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1527390 | Neoplasms, Intracranial | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C1527390 | Neoplasms, Intracranial | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C1527390 | Neoplasms, Intracranial | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C1527390 | Neoplasms, Intracranial | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1527390 | Neoplasms, Intracranial | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1527390 | Neoplasms, Intracranial | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C1527390 | Neoplasms, Intracranial | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C1527390 | Neoplasms, Intracranial | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1527390 | Neoplasms, Intracranial | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1527390 | Neoplasms, Intracranial | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C1527390 | Neoplasms, Intracranial | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1527390 | Neoplasms, Intracranial | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1527395 | Ogilvie Syndrome | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
