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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 |
|---|---|---|---|---|---|
| C0002963 | Angina Pectoris, Variant | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0002963 | Angina Pectoris, Variant | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0162635 | Angelman Syndrome | PRNP | 5621 | prion protein | P04156 |
| C0162635 | Angelman Syndrome | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0162635 | Angelman Syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0162635 | Angelman Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
| C0002940 | Aneurysm | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0002940 | Aneurysm | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0002902 | Anencephaly | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0002902 | Anencephaly | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0002902 | Anencephaly | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0002902 | Anencephaly | EFNA5 | 1946 | ephrin A5 | P52803 |
| 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 |
