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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 |
|---|---|---|---|---|---|
| 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 |
| C0004135 | Ataxia Telangiectasia | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0004135 | Ataxia Telangiectasia | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0004135 | Ataxia Telangiectasia | ARSA | 410 | arylsulfatase A | P15289 |
| C0004135 | Ataxia Telangiectasia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0004135 | Ataxia Telangiectasia | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0004135 | Ataxia Telangiectasia | CD38 | 952 | CD38 molecule | P28907 |
| C0004135 | Ataxia Telangiectasia | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0004135 | Ataxia Telangiectasia | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C0004135 | Ataxia Telangiectasia | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0004135 | Ataxia Telangiectasia | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| 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 |
