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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 |
|---|---|---|---|---|---|
| C0149630 | Bicuspid aortic valve | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0149630 | Bicuspid aortic valve | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0149630 | Bicuspid aortic valve | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0149630 | Bicuspid aortic valve | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0149630 | Bicuspid aortic valve | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0149630 | Bicuspid aortic valve | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0149630 | Bicuspid aortic valve | ACAN | 176 | aggrecan | P16112 |
| C0149630 | Bicuspid aortic valve | ARSD | 414 | arylsulfatase D | P51689 |
| C0266111 | Bifid tongue | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0342870 | Bifunctional peroxisomal enzyme deficiency | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0342870 | Bifunctional peroxisomal enzyme deficiency | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0431663 | Bilateral Cryptorchidism | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0431663 | Bilateral Cryptorchidism | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0431663 | Bilateral Cryptorchidism | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0431663 | Bilateral Cryptorchidism | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0431663 | Bilateral Cryptorchidism | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0431663 | Bilateral Cryptorchidism | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0431663 | Bilateral Cryptorchidism | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C2930471 | Bilateral Wilms Tumor | CAT | 847 | catalase | P04040 |
| C2930471 | Bilateral Wilms Tumor | GPC3 | 2719 | glypican 3 | P51654 |
| C3151147 | Bile Acid Synthesis Defect, Congenital, 3 | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C3151147 | Bile Acid Synthesis Defect, Congenital, 3 | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0005395 | Bile Duct Diseases | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0005396 | Bile Duct Neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0005403 | Bile Reflux | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
