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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 |
|---|---|---|---|---|---|
| C0027066 | Myoclonus | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0039685 | Tetralogy of Fallot | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0029408 | Degenerative polyarthritis | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0524851 | Neurodegenerative Disorders | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0085584 | Encephalopathies | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0038379 | Strabismus | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0025521 | Inborn Errors of Metabolism | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0013421 | Dystonia | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0027651 | Neoplasms | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0010417 | Cryptorchidism | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0036572 | Seizures | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0393593 | Dystonia Disorders | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0009402 | Colorectal Carcinoma | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0037769 | West Syndrome | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C1531647 | Cerebral ventriculomegaly | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0520947 | Clumsiness - motor delay | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0220981 | Metabolic acidosis | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0028738 | Nystagmus | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0684276 | Hypsarrhythmia | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0023473 | Myeloid Leukemia, Chronic | HMGCLL1 | 54511 | 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 | Q8TB92 |
| C0079731 | B-Cell Lymphomas | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0040034 | Thrombocytopenia | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0024301 | Lymphoma, Follicular | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0026847 | Spinal Muscular Atrophy | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0005818 | Blood Platelet Disorders | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
