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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 |
|---|---|---|---|---|---|
| C0027121 | Myositis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0027121 | Myositis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0027121 | Myositis | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
| C0027121 | Myositis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0027121 | Myositis | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0027121 | Myositis | KL | 9365 | klotho | Q9UEF7 |
| C0027121 | Myositis | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0027121 | Myositis | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0027121 | Myositis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0027121 | Myositis | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0027121 | Myositis | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C0027121 | Myositis | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0027121 | Myositis | CD74 | 972 | CD74 molecule | P04233 |
| C0027121 | Myositis | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0027121 | Myositis | DGKQ | 1609 | diacylglycerol kinase theta | P52824 |
| C0027121 | Myositis | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0027121 | Myositis | ARSF | 416 | arylsulfatase F | P54793 |
| C0027121 | Myositis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0027122 | Myositis Ossificans | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0027122 | Myositis Ossificans | SDC2 | 6383 | syndecan 2 | P34741 |
| C0752355 | Myotonia Fluctuans (disorder) | QTRT1 | 81890 | queuine tRNA-ribosyltransferase catalytic subunit 1 | Q9BXR0 |
| C0553604 | Myotonic Disorders | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0027126 | Myotonic Dystrophy | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0027126 | Myotonic Dystrophy | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0027126 | Myotonic Dystrophy | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
