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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 |
|---|---|---|---|---|---|
| C3489393 | Hiatal Hernia | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C3489393 | Hiatal Hernia | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C3489396 | Hypogonadism, Isolated Hypogonadotropic | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C3489396 | Hypogonadism, Isolated Hypogonadotropic | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C3489396 | Hypogonadism, Isolated Hypogonadotropic | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C3489413 | Lipomatosis, Multiple | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C3489413 | Lipomatosis, Multiple | CPM | 1368 | carboxypeptidase M | P14384 |
| C3489413 | Lipomatosis, Multiple | DCN | 1634 | decorin | P07585 |
| C3489413 | Lipomatosis, Multiple | ACAN | 176 | aggrecan | P16112 |
| C3489413 | Lipomatosis, Multiple | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C3489413 | Lipomatosis, Multiple | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3489532 | Cone-Rod Dystrophy 2 | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C3489532 | Cone-Rod Dystrophy 2 | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C3489532 | Cone-Rod Dystrophy 2 | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C3489532 | Cone-Rod Dystrophy 2 | CD38 | 952 | CD38 molecule | P28907 |
| C3489532 | Cone-Rod Dystrophy 2 | ALOX12 | 239 | arachidonate 12-lipoxygenase, 12S type | P18054 |
| C3489532 | Cone-Rod Dystrophy 2 | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C3489532 | Cone-Rod Dystrophy 2 | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C3489532 | Cone-Rod Dystrophy 2 | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C3489532 | Cone-Rod Dystrophy 2 | LGALS1 | 3956 | galectin 1 | P09382 |
| C3489532 | Cone-Rod Dystrophy 2 | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C3489532 | Cone-Rod Dystrophy 2 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3489532 | Cone-Rod Dystrophy 2 | RGMA | 56963 | repulsive guidance molecule BMP co-receptor a | Q96B86 |
| C3489532 | Cone-Rod Dystrophy 2 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C3489532 | Cone-Rod Dystrophy 2 | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
