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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 |
|---|---|---|---|---|---|
| C0002871 | Anemia | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0002871 | Anemia | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0002871 | Anemia | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0002871 | Anemia | HPSE | 10855 | heparanase | Q9Y251 |
| C0002871 | Anemia | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0002871 | Anemia | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0002871 | Anemia | ENO1 | 2023 | enolase 1 | P06733 |
| C0002871 | Anemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0002871 | Anemia | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0002871 | Anemia | HK1 | 3098 | hexokinase 1 | P19367 |
| C0002871 | Anemia | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0002871 | Anemia | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0002871 | Anemia | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0002871 | Anemia | MPG | 4350 | N-methylpurine DNA glycosylase | P29372 |
| C0002871 | Anemia | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0002871 | Anemia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0002871 | Anemia | PGAM1 | 5223 | phosphoglycerate mutase 1 | P18669 |
| C0002871 | Anemia | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0002871 | Anemia | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0002871 | Anemia | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0002871 | Anemia | CALR | 811 | calreticulin | P27797 |
| C0002871 | Anemia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0002871 | Anemia | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0002871 | Anemia | KL | 9365 | klotho | Q9UEF7 |
| C0002871 | Anemia | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
