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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 |
|---|---|---|---|---|---|
| C0004135 | Ataxia Telangiectasia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0004135 | Ataxia Telangiectasia | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0004135 | Ataxia Telangiectasia | TBXAS1 | 6916 | thromboxane A synthase 1 | P24557 |
| C0004135 | Ataxia Telangiectasia | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0004135 | Ataxia Telangiectasia | CAT | 847 | catalase | P04040 |
| C0004135 | Ataxia Telangiectasia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0004135 | Ataxia Telangiectasia | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0004135 | Ataxia Telangiectasia | PARP10 | 84875 | poly(ADP-ribose) polymerase family member 10 | Q53GL7 |
| C0004135 | Ataxia Telangiectasia | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0004135 | Ataxia Telangiectasia | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0004135 | Ataxia Telangiectasia | LTC4S | 4056 | leukotriene C4 synthase | Q16873 |
| C0004135 | Ataxia Telangiectasia | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0004135 | Ataxia Telangiectasia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0004135 | Ataxia Telangiectasia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0004135 | Ataxia Telangiectasia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0004138 | Ataxias, Hereditary | PRNP | 5621 | prion protein | P04156 |
| C0004138 | Ataxias, Hereditary | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0004138 | Ataxias, Hereditary | PRNP | 5621 | prion protein | F7VJQ1 |
| C0004153 | Atherosclerosis | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0004153 | Atherosclerosis | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0004153 | Atherosclerosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0004153 | Atherosclerosis | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0004153 | Atherosclerosis | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C0004153 | Atherosclerosis | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0004153 | Atherosclerosis | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
