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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 | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0036572 | Seizures | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0036572 | Seizures | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0036572 | Seizures | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0036572 | Seizures | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0036572 | Seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0036572 | Seizures | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0036572 | Seizures | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0036572 | Seizures | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0036572 | Seizures | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0036572 | Seizures | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0036572 | Seizures | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0036572 | Seizures | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0036572 | Seizures | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0036572 | Seizures | AMT | 275 | aminomethyltransferase | P48728 |
| C0036572 | Seizures | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0036572 | Seizures | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0036572 | Seizures | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0036572 | Seizures | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0036572 | Seizures | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0036572 | Seizures | HMGCS2 | 3158 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | P54868 |
| C0036572 | Seizures | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0036572 | Seizures | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0036572 | Seizures | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0036572 | Seizures | LSS | 4047 | lanosterol synthase | P48449 |
