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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 | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0036572 | Seizures | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0036572 | Seizures | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0036572 | Seizures | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0036572 | Seizures | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0036572 | Seizures | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0036572 | Seizures | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C0036572 | Seizures | DGKD | 8527 | diacylglycerol kinase delta | Q16760 |
| C0036572 | Seizures | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0751495 | Seizures, Focal | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0751495 | Seizures, Focal | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0751495 | Seizures, Focal | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0751495 | Seizures, Focal | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0751495 | Seizures, Focal | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0751495 | Seizures, Focal | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0751495 | Seizures, Focal | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0751495 | Seizures, Focal | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0751495 | Seizures, Focal | ENO2 | 2026 | enolase 2 | P09104 |
| C0751495 | Seizures, Focal | STT3A | 3703 | STT3 oligosaccharyltransferase complex catalytic subunit A | P46977 |
| C0751495 | Seizures, Focal | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0751495 | Seizures, Focal | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0751495 | Seizures, Focal | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751495 | Seizures, Focal | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C0751495 | Seizures, Focal | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0751495 | Seizures, Focal | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
