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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 |
|---|---|---|---|---|---|
| C0000744 | Abetalipoproteinemia | LGALS1 | 3956 | galectin 1 | P09382 |
| C0000744 | Abetalipoproteinemia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0000744 | Abetalipoproteinemia | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0000744 | Abetalipoproteinemia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0000744 | Abetalipoproteinemia | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0000768 | Congenital Abnormality | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0000768 | Congenital Abnormality | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0000768 | Congenital Abnormality | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0000768 | Congenital Abnormality | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0000768 | Congenital Abnormality | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0000768 | Congenital Abnormality | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0000768 | Congenital Abnormality | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0000768 | Congenital Abnormality | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0000768 | Congenital Abnormality | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0000768 | Congenital Abnormality | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0000768 | Congenital Abnormality | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0000768 | Congenital Abnormality | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0000768 | Congenital Abnormality | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0000768 | Congenital Abnormality | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0000768 | Congenital Abnormality | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0000768 | Congenital Abnormality | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0000768 | Congenital Abnormality | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0000768 | Congenital Abnormality | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0000768 | Congenital Abnormality | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0000768 | Congenital Abnormality | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
