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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 |
|---|---|---|---|---|---|
| C0013421 | Dystonia | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0013421 | Dystonia | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0013421 | Dystonia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0013421 | Dystonia | MDH2 | 4191 | malate dehydrogenase 2 | P40926 |
| C0013421 | Dystonia | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0013421 | Dystonia | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0013421 | Dystonia | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0013421 | Dystonia | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0013421 | Dystonia | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0013421 | Dystonia | ALDH6A1 | 4329 | aldehyde dehydrogenase 6 family member A1 | Q02252 |
| C0013421 | Dystonia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0013421 | Dystonia | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0013421 | Dystonia | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0013447 | Ear Diseases | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0013447 | Ear Diseases | CD14 | 929 | CD14 molecule | P08571 |
| C0013473 | Eating Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0013473 | Eating Disorders | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0013473 | Eating Disorders | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0013473 | Eating Disorders | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0013473 | Eating Disorders | GPCPD1 | 56261 | glycerophosphocholine phosphodiesterase 1 | Q9NPB8 |
| C0013473 | Eating Disorders | ARSD | 414 | arylsulfatase D | P51689 |
| C0013502 | Echinococcosis | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0013528 | Echolalia | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C0013528 | Echolalia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0013528 | Echolalia | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
