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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 |
|---|---|---|---|---|---|
| C0014556 | Epilepsy, Temporal Lobe | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C0014556 | Epilepsy, Temporal Lobe | ENO2 | 2026 | enolase 2 | P09104 |
| C0014556 | Epilepsy, Temporal Lobe | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0014556 | Epilepsy, Temporal Lobe | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0014556 | Epilepsy, Temporal Lobe | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0014556 | Epilepsy, Temporal Lobe | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0014556 | Epilepsy, Temporal Lobe | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0014556 | Epilepsy, Temporal Lobe | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0014556 | Epilepsy, Temporal Lobe | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0014556 | Epilepsy, Temporal Lobe | PRNP | 5621 | prion protein | P04156 |
| C0014556 | Epilepsy, Temporal Lobe | RGMA | 56963 | repulsive guidance molecule BMP co-receptor a | Q96B86 |
| C0014556 | Epilepsy, Temporal Lobe | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0014556 | Epilepsy, Temporal Lobe | SEMA7A | 8482 | semaphorin 7A (John Milton Hagen blood group) | O75326 |
| C0014556 | Epilepsy, Temporal Lobe | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0014556 | Epilepsy, Temporal Lobe | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0014556 | Epilepsy, Temporal Lobe | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0014556 | Epilepsy, Temporal Lobe | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0014556 | Epilepsy, Temporal Lobe | PRNP | 5621 | prion protein | F7VJQ1 |
| C0014556 | Epilepsy, Temporal Lobe | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0014553 | Absence Epilepsy | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0014553 | Absence Epilepsy | CANX | 821 | calnexin | P27824 |
| C0014553 | Absence Epilepsy | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C0014553 | Absence Epilepsy | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0014553 | Absence Epilepsy | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0014553 | Absence Epilepsy | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
