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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 |
|---|---|---|---|---|---|
| C0392476 | Epiphyseal dysplasia | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0392476 | Epiphyseal dysplasia | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| 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 |
| C0376532 | Epilepsy, Rolandic | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0376532 | Epilepsy, Rolandic | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0376532 | Epilepsy, Rolandic | MDGA2 | 161357 | MAM domain containing glycosylphosphatidylinositol anchor 2 | Q7Z553 |
| C0376532 | Epilepsy, Rolandic | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
