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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 | 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 |
| C1260899 | Anemia, Diamond-Blackfan | CD38 | 952 | CD38 molecule | P28907 |
| C0002878 | Anemia, Hemolytic | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0002878 | Anemia, Hemolytic | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0002878 | Anemia, Hemolytic | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0002878 | Anemia, Hemolytic | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0002878 | Anemia, Hemolytic | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0002878 | Anemia, Hemolytic | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0002878 | Anemia, Hemolytic | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0002878 | Anemia, Hemolytic | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0002878 | Anemia, Hemolytic | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0002878 | Anemia, Hemolytic | HK1 | 3098 | hexokinase 1 | P19367 |
