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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 | 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 |
| C0002871 | Anemia | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0002871 | Anemia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0002871 | Anemia | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0002871 | Anemia | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0002871 | Anemia | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0002871 | Anemia | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0002871 | Anemia | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0002871 | Anemia | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0002871 | Anemia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0002871 | Anemia | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0002871 | Anemia | ACO1 | 48 | aconitase 1 | P21399 |
| C0002871 | Anemia | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0002871 | Anemia | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C0002871 | Anemia | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
