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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 |
|---|---|---|---|---|---|
| C0742343 | Acute Chest Syndrome | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| 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 |
| C0744421 | Immune-complex glomerulonephritis | LGALS9 | 3965 | galectin 9 | O00182 |
| C0745103 | Hyperlipoproteinemia Type IIa | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0745103 | Hyperlipoproteinemia Type IIa | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0745103 | Hyperlipoproteinemia Type IIa | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0745103 | Hyperlipoproteinemia Type IIa | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0745103 | Hyperlipoproteinemia Type IIa | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0745103 | Hyperlipoproteinemia Type IIa | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0745103 | Hyperlipoproteinemia Type IIa | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0745103 | Hyperlipoproteinemia Type IIa | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0745103 | Hyperlipoproteinemia Type IIa | ANXA5 | 308 | annexin A5 | P08758 |
| C0745103 | Hyperlipoproteinemia Type IIa | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0745103 | Hyperlipoproteinemia Type IIa | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0745103 | Hyperlipoproteinemia Type IIa | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0745103 | Hyperlipoproteinemia Type IIa | LPL | 4023 | lipoprotein lipase | P06858 |
| C0745103 | Hyperlipoproteinemia Type IIa | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0745103 | Hyperlipoproteinemia Type IIa | SELE | 6401 | selectin E | P16581 |
| 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 |
