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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 |
|---|---|---|---|---|---|
| C0752347 | Lewy Body Disease | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0752347 | Lewy Body Disease | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0752347 | Lewy Body Disease | TIGAR | 57103 | TP53 induced glycolysis regulatory phosphatase | Q9NQ88 |
| C0752347 | Lewy Body Disease | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0752347 | Lewy Body Disease | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0752347 | Lewy Body Disease | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0752347 | Lewy Body Disease | LGALS3 | 3958 | galectin 3 | P17931 |
| C0752347 | Lewy Body Disease | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0752347 | Lewy Body Disease | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0752347 | Lewy Body Disease | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0752347 | Lewy Body Disease | PRNP | 5621 | prion protein | P04156 |
| C0752347 | Lewy Body Disease | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0752347 | Lewy Body Disease | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0752347 | Lewy Body Disease | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0752347 | Lewy Body Disease | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0752347 | Lewy Body Disease | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0752347 | Lewy Body Disease | PRNP | 5621 | prion protein | F7VJQ1 |
| C0752347 | Lewy Body Disease | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0752347 | Lewy Body Disease | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0752282 | Congenital Structural Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0752282 | Congenital Structural Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0752282 | Congenital Structural Myopathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0752235 | Lyme Neuroborreliosis | FOLR2 | 2350 | folate receptor beta | P14207 |
| C0752208 | Pseudodystonia | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0752207 | Familial Dystonia | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
