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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 |
|---|---|---|---|---|---|
| C2931009 | Congenital disorder of glycosylation type 2D | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C2931009 | Congenital disorder of glycosylation type 2D | B4GALT1 | 2683 | beta-1,4-galactosyltransferase 1 | P15291 |
| C2931010 | Congenital disorder of glycosylation type 2E | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0398739 | Congenital disorder of glycosylation, type 2C | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0398739 | Congenital disorder of glycosylation, type 2C | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C0398739 | Congenital disorder of glycosylation, type 2C | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0398739 | Congenital disorder of glycosylation, type 2C | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C2931011 | Congenital disorder of glycosylation, type 2G | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0002876 | Congenital dyserythropoietic anemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0002876 | Congenital dyserythropoietic anemia | GANC | 2595 | glucosidase alpha, neutral C | Q8TET4 |
| C0002876 | Congenital dyserythropoietic anemia | MAN2A1 | 4124 | mannosidase alpha class 2A member 1 | Q16706 |
| C0002876 | Congenital dyserythropoietic anemia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0002876 | Congenital dyserythropoietic anemia | LPIN2 | 9663 | lipin 2 | Q92539 |
| C1306589 | Congenital dyserythropoietic anemia, type II | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C1306589 | Congenital dyserythropoietic anemia, type II | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1306589 | Congenital dyserythropoietic anemia, type II | MAN2A1 | 4124 | mannosidase alpha class 2A member 1 | Q16706 |
| C1306589 | Congenital dyserythropoietic anemia, type II | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C1306589 | Congenital dyserythropoietic anemia, type II | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1306589 | Congenital dyserythropoietic anemia, type II | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C1306503 | Congenital exomphalos | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1306503 | Congenital exomphalos | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1306503 | Congenital exomphalos | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C1306503 | Congenital exomphalos | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C1306503 | Congenital exomphalos | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C1306503 | Congenital exomphalos | AGA | 175 | aspartylglucosaminidase | P20933 |
