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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 |
|---|---|---|---|---|---|
| C0002881 | Anemia, Hemolytic, Congenital | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0002881 | Anemia, Hemolytic, Congenital | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0002882 | Anemia, Hemolytic, Congenital Nonspherocytic | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0002882 | Anemia, Hemolytic, Congenital Nonspherocytic | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0002882 | Anemia, Hemolytic, Congenital Nonspherocytic | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0002882 | Anemia, Hemolytic, Congenital Nonspherocytic | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0002886 | Anemia, Macrocytic | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0002886 | Anemia, Macrocytic | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0002886 | Anemia, Macrocytic | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C0002888 | Anemia, Megaloblastic | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0002888 | Anemia, Megaloblastic | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0002891 | Anemia, Neonatal | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0002892 | Anemia, Pernicious | FUT6 | 2528 | fucosyltransferase 6 | P51993 |
| C0002892 | Anemia, Pernicious | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0002895 | Anemia, Sickle Cell | GALNT13 | 114805 | polypeptide N-acetylgalactosaminyltransferase 13 | Q8IUC8 |
| C0002895 | Anemia, Sickle Cell | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0002895 | Anemia, Sickle Cell | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0002895 | Anemia, Sickle Cell | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0002895 | Anemia, Sickle Cell | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0002895 | Anemia, Sickle Cell | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0002895 | Anemia, Sickle Cell | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0002895 | Anemia, Sickle Cell | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0002895 | Anemia, Sickle Cell | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0002895 | Anemia, Sickle Cell | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0002895 | Anemia, Sickle Cell | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
