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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 | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C0002871 | Anemia | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0002871 | Anemia | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0002871 | Anemia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0002871 | Anemia | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0002871 | Anemia | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C0002871 | Anemia | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0002871 | Anemia | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
| C0002871 | Anemia | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0002871 | Anemia | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0002871 | Anemia | TMED3 | 23423 | transmembrane p24 trafficking protein 3 | Q9Y3Q3 |
| C0002871 | Anemia | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0002871 | Anemia | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0002871 | Anemia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0002871 | Anemia | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C0002871 | Anemia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0002871 | Anemia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0002871 | Anemia | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0002871 | Anemia | SHMT2 | 6472 | serine hydroxymethyltransferase 2 | P34897 |
| C0002871 | Anemia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0002871 | Anemia | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0002874 | Aplastic Anemia | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0002874 | Aplastic Anemia | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0002874 | Aplastic Anemia | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0002874 | Aplastic Anemia | LGALS9 | 3965 | galectin 9 | O00182 |
