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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 | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| 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 |
| C0349653 | Congenital disorder of glycosylation type 1A | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C0349653 | Congenital disorder of glycosylation type 1A | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0349653 | Congenital disorder of glycosylation type 1A | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0349653 | Congenital disorder of glycosylation type 1A | OGA | 10724 | O-GlcNAcase | O60502 |
| C0349653 | Congenital disorder of glycosylation type 1A | PMM1 | 5372 | phosphomannomutase 1 | Q92871 |
| C1865145 | Congenital disorder of glycosylation type 1B | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C1865145 | Congenital disorder of glycosylation type 1B | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C2930997 | Congenital disorder of glycosylation type 1C | ALG6 | 29929 | ALG6 alpha-1,3-glucosyltransferase | Q9Y672 |
| C2931001 | Congenital disorder of glycosylation type 1G | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C2931002 | Congenital disorder of glycosylation type 1H | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C2931002 | Congenital disorder of glycosylation type 1H | MAN1A1 | 4121 | mannosidase alpha class 1A member 1 | P33908 |
| C2931004 | Congenital disorder of glycosylation type 1J | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C2931005 | Congenital disorder of glycosylation type 1K | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C2931006 | Congenital disorder of glycosylation type 1L | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C2931006 | Congenital disorder of glycosylation type 1L | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C2931007 | Congenital disorder of glycosylation type 1X | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C4317224 | Congenital disorder of glycosylation type 1q | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
