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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 | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0036572 | Seizures | ME1 | 4199 | malic enzyme 1 | P48163 |
| C0036572 | Seizures | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0036572 | Seizures | ARSD | 414 | arylsulfatase D | P51689 |
| C0036572 | Seizures | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0036572 | Seizures | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0036572 | Seizures | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0036572 | Seizures | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0036572 | Seizures | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0036572 | Seizures | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0036572 | Seizures | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0036572 | Seizures | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0036572 | Seizures | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C0036572 | Seizures | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0036572 | Seizures | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0036572 | Seizures | PRNP | 5621 | prion protein | F7VJQ1 |
| C0036572 | Seizures | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0036572 | Seizures | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0036572 | Seizures | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| 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 |
