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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 |
|---|---|---|---|---|---|
| C0014742 | Erythema Multiforme | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0014742 | Erythema Multiforme | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0014742 | Erythema Multiforme | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0014742 | Erythema Multiforme | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0014761 | Erythroblastosis, Fetal | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0014761 | Erythroblastosis, Fetal | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0014804 | Erythromelalgia | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0014805 | Primary Erythermalgia | GLA | 2717 | galactosidase alpha | P06280 |
| C0014848 | Esophageal Achalasia | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0014848 | Esophageal Achalasia | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0014848 | Esophageal Achalasia | CALR | 811 | calreticulin | P27797 |
| C0014848 | Esophageal Achalasia | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0014848 | Esophageal Achalasia | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C0014850 | Esophageal Atresia | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0014850 | Esophageal Atresia | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0014850 | Esophageal Atresia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0014852 | Esophageal Diseases | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0014852 | Esophageal Diseases | IL18RAP | 8807 | interleukin 18 receptor accessory protein | O95256 |
| C0014852 | Esophageal Diseases | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0014852 | Esophageal Diseases | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0014852 | Esophageal Diseases | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0014852 | Esophageal Diseases | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0014852 | Esophageal Diseases | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0014859 | Esophageal Neoplasms | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0014859 | Esophageal Neoplasms | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
