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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 |
|---|---|---|---|---|---|
| C1306503 | Congenital exomphalos | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C1306503 | Congenital exomphalos | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C1306503 | Congenital exomphalos | GUSB | 2990 | glucuronidase beta | P08236 |
| C1306503 | Congenital exomphalos | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C1306503 | Congenital exomphalos | ARSB | 411 | arylsulfatase B | P15848 |
| C1306503 | Congenital exomphalos | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C1306503 | Congenital exomphalos | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C1306503 | Congenital exomphalos | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1306503 | Congenital exomphalos | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1306503 | Congenital exomphalos | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C1306503 | Congenital exomphalos | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C1306503 | Congenital exomphalos | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C1306503 | Congenital exomphalos | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C1306503 | Congenital exomphalos | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C1306503 | Congenital exomphalos | GPC3 | 2719 | glypican 3 | P51654 |
| C1306503 | Congenital exomphalos | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C1306503 | Congenital exomphalos | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1306503 | Congenital exomphalos | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1306503 | Congenital exomphalos | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1306503 | Congenital exomphalos | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0332915 | Congenital failure of fusion | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0332915 | Congenital failure of fusion | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0268186 | Congenital glucose-galactose malabsorption | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0268186 | Congenital glucose-galactose malabsorption | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0268186 | Congenital glucose-galactose malabsorption | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
