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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 |
|---|---|---|---|---|---|
| C0751885 | Myasthenic Syndromes, Congenital, Slow Channel | AGRN | 375790 | agrin | O00468 |
| C0751950 | Neuromuscular Junction Diseases | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751950 | Neuromuscular Junction Diseases | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751950 | Neuromuscular Junction Diseases | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0751951 | Central Core Myopathy (disorder) | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0751951 | Central Core Myopathy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0751951 | Central Core Myopathy (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0751951 | Central Core Myopathy (disorder) | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0751951 | Central Core Myopathy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0751951 | Central Core Myopathy (disorder) | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0751951 | Central Core Myopathy (disorder) | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0751951 | Central Core Myopathy (disorder) | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0751951 | Central Core Myopathy (disorder) | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0751951 | Central Core Myopathy (disorder) | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0751955 | Brain Infarction | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0751955 | Brain Infarction | PARG | 8505 | poly(ADP-ribose) glycohydrolase | Q86W56 |
| C0751955 | Brain Infarction | PARG | 8505 | poly(ADP-ribose) glycohydrolase | Q86WA6 |
| C0751955 | Brain Infarction | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0751955 | Brain Infarction | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0751955 | Brain Infarction | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C0751955 | Brain Infarction | LPL | 4023 | lipoprotein lipase | P06858 |
| C0751955 | Brain Infarction | STS | 412 | steroid sulfatase | P08842 |
| C0751955 | Brain Infarction | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0751955 | Brain Infarction | TBXAS1 | 6916 | thromboxane A synthase 1 | P24557 |
| C0751955 | Brain Infarction | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
