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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 ▼ |
|---|---|---|---|---|---|
| C0265965 | Dyskeratosis Congenita | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0032326 | Pneumothorax | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0014175 | Endometriosis | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0013384 | Dyskinetic syndrome | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0684276 | Hypsarrhythmia | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0008489 | Chorea | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0751495 | Seizures, Focal | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0036857 | Severe intellectual disability | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0021400 | Influenza | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0520947 | Clumsiness - motor delay | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0017152 | Gastritis | SIGLEC8 | 27181 | sialic acid binding Ig like lectin 8 | Q9NYZ4 |
| C0341106 | Eosinophilic esophagitis | SIGLEC8 | 27181 | sialic acid binding Ig like lectin 8 | Q9NYZ4 |
| C0004096 | Asthma | SIGLEC8 | 27181 | sialic acid binding Ig like lectin 8 | Q9NYZ4 |
| C0014458 | Eosinophilia, Tropical | SIGLEC8 | 27181 | sialic acid binding Ig like lectin 8 | Q9NYZ4 |
| C0024117 | Chronic Obstructive Airway Disease | SIGLEC8 | 27181 | sialic acid binding Ig like lectin 8 | Q9NYZ4 |
| C0034068 | Pulmonary Eosinophilia | SIGLEC8 | 27181 | sialic acid binding Ig like lectin 8 | Q9NYZ4 |
| C0019569 | Hirschsprung Disease | SIGLEC8 | 27181 | sialic acid binding Ig like lectin 8 | Q9NYZ4 |
| C3714636 | Pneumonitis | SIGLEC8 | 27181 | sialic acid binding Ig like lectin 8 | Q9NYZ4 |
| C0017160 | Gastroenteritis | SIGLEC8 | 27181 | sialic acid binding Ig like lectin 8 | Q9NYZ4 |
| C1262481 | Eosinophilic gastroenteritis | SIGLEC8 | 27181 | sialic acid binding Ig like lectin 8 | Q9NYZ4 |
| C0027651 | Neoplasms | SIGLEC8 | 27181 | sialic acid binding Ig like lectin 8 | Q9NYZ4 |
| C0006826 | Malignant Neoplasms | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0019196 | Hepatitis C | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0600139 | Prostate carcinoma | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0947622 | Cholecystolithiasis | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
