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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 |
|---|---|---|---|---|---|
| C0014553 | Absence Epilepsy | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0014550 | Myoclonic Epilepsy | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0014550 | Myoclonic Epilepsy | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0014550 | Myoclonic Epilepsy | ARSA | 410 | arylsulfatase A | P15289 |
| C0014550 | Myoclonic Epilepsy | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0014550 | Myoclonic Epilepsy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0014550 | Myoclonic Epilepsy | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C0014548 | Epilepsy, Generalized | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0014548 | Epilepsy, Generalized | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0014548 | Epilepsy, Generalized | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C0014548 | Epilepsy, Generalized | ME2 | 4200 | malic enzyme 2 | P23368 |
| C0014548 | Epilepsy, Generalized | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0014548 | Epilepsy, Generalized | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0014548 | Epilepsy, Generalized | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0014548 | Epilepsy, Generalized | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0014548 | Epilepsy, Generalized | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0014547 | Epilepsies, Partial | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0014547 | Epilepsies, Partial | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0014547 | Epilepsies, Partial | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0014547 | Epilepsies, Partial | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0014547 | Epilepsies, Partial | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0014544 | Epilepsy | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0014544 | Epilepsy | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0014544 | Epilepsy | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0014544 | Epilepsy | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
