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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 |
|---|---|---|---|---|---|
| C0231341 | Premature aging syndrome | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0231341 | Premature aging syndrome | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0231341 | Premature aging syndrome | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0231341 | Premature aging syndrome | CAT | 847 | catalase | P04040 |
| C0231341 | Premature aging syndrome | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0231341 | Premature aging syndrome | KL | 9365 | klotho | Q9UEF7 |
| C0231341 | Premature aging syndrome | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0231341 | Premature aging syndrome | GUSB | 2990 | glucuronidase beta | P08236 |
| C0231341 | Premature aging syndrome | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0231528 | Myalgia | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0231528 | Myalgia | ACADL | 33 | acyl-CoA dehydrogenase long chain | P28330 |
| C0231528 | Myalgia | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0231528 | Myalgia | LPIN1 | 23175 | lipin 1 | Q14693 |
| C0231528 | Myalgia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0231528 | Myalgia | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0231528 | Myalgia | GLA | 2717 | galactosidase alpha | P06280 |
| C0231528 | Myalgia | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0231528 | Myalgia | ENO3 | 2027 | enolase 3 | P13929 |
| C0231528 | Myalgia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0231528 | Myalgia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0231528 | Myalgia | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0231528 | Myalgia | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0231528 | Myalgia | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0231528 | Myalgia | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0231528 | Myalgia | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
