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 |
---|---|---|---|---|---|
C0020758 | Congenital ichthyosis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
C0013421 | Dystonia | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
C0000768 | Congenital Abnormality | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
C0025362 | Mental Retardation | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
C0235946 | Cerebral atrophy | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
C0038273 | Stereotypic Movement Disorder | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
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 |
C0023434 | Chronic Lymphocytic Leukemia | CD38 | 952 | CD38 molecule | P28907 |
C0039101 | synovial sarcoma | CD38 | 952 | CD38 molecule | P28907 |
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Last updated: August 19, 2024