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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 |
|---|---|---|---|---|---|
| C0036572 | Seizures | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0036572 | Seizures | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0036572 | Seizures | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0036572 | Seizures | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0036572 | Seizures | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0036572 | Seizures | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0036572 | Seizures | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0036572 | Seizures | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0036572 | Seizures | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0036572 | Seizures | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0036572 | Seizures | PIGH | 5283 | phosphatidylinositol glycan anchor biosynthesis class H | Q14442 |
| C0036572 | Seizures | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0036572 | Seizures | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0036572 | Seizures | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0036572 | Seizures | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0036572 | Seizures | GCK | 2645 | glucokinase | P35557 |
| C0036572 | Seizures | GPC3 | 2719 | glypican 3 | P51654 |
| C0036572 | Seizures | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0036572 | Seizures | GPC1 | 2817 | glypican 1 | P35052 |
| C0036572 | Seizures | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0036572 | Seizures | MDH2 | 4191 | malate dehydrogenase 2 | P40926 |
| C0036572 | Seizures | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0036572 | Seizures | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0036572 | Seizures | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0036572 | Seizures | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
