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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 |
|---|---|---|---|---|---|
| C1527366 | Salaam Seizures | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C3714756 | Intellectual Disability | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0234533 | Generalized seizures | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C3151462 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0011581 | Depressive disorder | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0025958 | Microcephaly | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0018799 | Heart Diseases | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| 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 |
| C0221356 | Brachycephaly | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C1836669 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0282577 | Congenital Disorders of Glycosylation | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020757 | Ichthyoses | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0042798 | Low Vision | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0870082 | Hyperkeratosis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0038379 | Strabismus | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C4317224 | Congenital disorder of glycosylation type 1q | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
