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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 |
|---|---|---|---|---|---|
| C0009404 | Colorectal Neoplasms | GPX2 | 2877 | glutathione peroxidase 2 | P18283 |
| C0009404 | Colorectal Neoplasms | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0009404 | Colorectal Neoplasms | LTC4S | 4056 | leukotriene C4 synthase | Q16873 |
| C0009404 | Colorectal Neoplasms | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C0009404 | Colorectal Neoplasms | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C0009404 | Colorectal Neoplasms | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0009404 | Colorectal Neoplasms | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0009404 | Colorectal Neoplasms | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C0009404 | Colorectal Neoplasms | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0009404 | Colorectal Neoplasms | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0009404 | Colorectal Neoplasms | PRNP | 5621 | prion protein | F7VJQ1 |
| C0009404 | Colorectal Neoplasms | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0009404 | Colorectal Neoplasms | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0009404 | Colorectal Neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2746066 | Combined D-2- and L-2-hydroxyglutaric aciduria | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C2746066 | Combined D-2- and L-2-hydroxyglutaric aciduria | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C2746066 | Combined D-2- and L-2-hydroxyglutaric aciduria | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C3280314 | Combined Malonic and Methylmalonic Aciduria | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C2673635 | Combined Saposin Deficiency | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C2673635 | Combined Saposin Deficiency | PSAP | 5660 | prosaposin | P07602 |
| C0494261 | Combined immunodeficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0494261 | Combined immunodeficiency | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0494261 | Combined immunodeficiency | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0268119 | Combined molybdoflavoprotein enzyme deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0268119 | Combined molybdoflavoprotein enzyme deficiency | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
