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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 |
|---|---|---|---|---|---|
| C0086543 | Cataract | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C4479620 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C4551675 | Keratoderma, Palmoplantar | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0041834 | Erythema | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0019829 | Hodgkin Disease | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0037274 | Dermatologic disorders | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0037286 | Skin Neoplasms | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0079744 | Diffuse Large B-Cell Lymphoma | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0010038 | Corneal Opacity | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C1384666 | hearing impairment | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0006826 | Malignant Neoplasms | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0013336 | Dwarfism | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0025958 | Microcephaly | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0017601 | Glaucoma | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0011849 | Diabetes Mellitus | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0265961 | Erythrokeratodermia variabilis | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0349506 | Photosensitivity of skin | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0022596 | Palmoplantar Keratosis | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C1332201 | Adult Diffuse Large B-Cell Lymphoma | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C2711227 | Steatohepatitis | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0015230 | Exanthema | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C3714756 | Intellectual Disability | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0023473 | Myeloid Leukemia, Chronic | HMGCLL1 | 54511 | 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 | Q8TB92 |
| C0023264 | Leigh Disease | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
