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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 | 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 |
| 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 |
