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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 |
|---|---|---|---|---|---|
| C3489532 | Cone-Rod Dystrophy 2 | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C3489532 | Cone-Rod Dystrophy 2 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3489532 | Cone-Rod Dystrophy 2 | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C3489532 | Cone-Rod Dystrophy 2 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3489532 | Cone-Rod Dystrophy 2 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3489532 | Cone-Rod Dystrophy 2 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3489532 | Cone-Rod Dystrophy 2 | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| 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 |
| 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 |
| C3489393 | Hiatal Hernia | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C3489393 | Hiatal Hernia | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C3489393 | Hiatal Hernia | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| 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 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | TIGAR | 57103 | TP53 induced glycolysis regulatory phosphatase | Q9NQ88 |
