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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 |
|---|---|---|---|---|---|
| C0745103 | Hyperlipoproteinemia Type IIa | LIPG | 9388 | lipase G, endothelial type | Q9Y5X9 |
| C0745103 | Hyperlipoproteinemia Type IIa | ADPRH | 141 | ADP-ribosylarginine hydrolase | P54922 |
| C0745103 | Hyperlipoproteinemia Type IIa | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0745103 | Hyperlipoproteinemia Type IIa | SDC2 | 6383 | syndecan 2 | P34741 |
| C0745103 | Hyperlipoproteinemia Type IIa | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0745103 | Hyperlipoproteinemia Type IIa | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0745103 | Hyperlipoproteinemia Type IIa | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0745103 | Hyperlipoproteinemia Type IIa | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C0745103 | Hyperlipoproteinemia Type IIa | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0745103 | Hyperlipoproteinemia Type IIa | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0745103 | Hyperlipoproteinemia Type IIa | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0745103 | Hyperlipoproteinemia Type IIa | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0745103 | Hyperlipoproteinemia Type IIa | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0744421 | Immune-complex glomerulonephritis | LGALS9 | 3965 | galectin 9 | O00182 |
| C0743332 | Focal Dystonia | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0743332 | Focal Dystonia | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0743332 | Focal Dystonia | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0742343 | Acute Chest Syndrome | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0742343 | Acute Chest Syndrome | GALNT4 | 8693 | polypeptide N-acetylgalactosaminyltransferase 4 | Q8N4A0 |
| C0742343 | Acute Chest Syndrome | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0742343 | Acute Chest Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C0742343 | Acute Chest Syndrome | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0742343 | Acute Chest Syndrome | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0742343 | Acute Chest Syndrome | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0742343 | Acute Chest Syndrome | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
