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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 |
|---|---|---|---|---|---|
| C0235833 | Congenital diaphragmatic hernia | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0235833 | Congenital diaphragmatic hernia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0235833 | Congenital diaphragmatic hernia | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0235833 | Congenital diaphragmatic hernia | GPC3 | 2719 | glypican 3 | P51654 |
| C0235833 | Congenital diaphragmatic hernia | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0235833 | Congenital diaphragmatic hernia | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0235833 | Congenital diaphragmatic hernia | SFTPC | 6440 | surfactant protein C | P11686 |
| C2931779 | Congenital defect of skull and scalp | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0339789 | Congenital deafness | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0339789 | Congenital deafness | TECTA | 7007 | tectorin alpha | O75443 |
| C0339789 | Congenital deafness | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0339789 | Congenital deafness | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0311245 | Congenital cystic kidney disease | ARF4 | 378 | ADP ribosylation factor 4 | P18085 |
| C0311245 | Congenital cystic kidney disease | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0220668 | Congenital contractural arachnodactyly | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0220668 | Congenital contractural arachnodactyly | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0220668 | Congenital contractural arachnodactyly | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0220668 | Congenital contractural arachnodactyly | ENO1 | 2023 | enolase 1 | P06733 |
| C0220668 | Congenital contractural arachnodactyly | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0220668 | Congenital contractural arachnodactyly | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0220668 | Congenital contractural arachnodactyly | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0220668 | Congenital contractural arachnodactyly | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0220668 | Congenital contractural arachnodactyly | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0220668 | Congenital contractural arachnodactyly | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0220668 | Congenital contractural arachnodactyly | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
