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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 | CACNA2D3 | 55799 | calcium voltage-gated channel auxiliary subunit alpha2delta 3 | Q8IZS8 |
| C0002871 | Anemia | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0002871 | Anemia | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0002871 | Anemia | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0002871 | Anemia | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0002871 | Anemia | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0002871 | Anemia | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0002871 | Anemia | SIGLEC1 | 6614 | sialic acid binding Ig like lectin 1 | Q9BZZ2 |
| C0002871 | Anemia | TBXAS1 | 6916 | thromboxane A synthase 1 | P24557 |
| C0002871 | Anemia | CAT | 847 | catalase | P04040 |
| C0002871 | Anemia | LPIN2 | 9663 | lipin 2 | Q92539 |
| 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 |
