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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 |
|---|---|---|---|---|---|
| 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 |
| C0002895 | Anemia, Sickle Cell | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0002895 | Anemia, Sickle Cell | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C0002895 | Anemia, Sickle Cell | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0002895 | Anemia, Sickle Cell | LYZ | 4069 | lysozyme | P61626 |
| C0002895 | Anemia, Sickle Cell | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0002895 | Anemia, Sickle Cell | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0002895 | Anemia, Sickle Cell | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0002895 | Anemia, Sickle Cell | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0002895 | Anemia, Sickle Cell | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0002895 | Anemia, Sickle Cell | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0002895 | Anemia, Sickle Cell | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
