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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 |
| C0027651 | Neoplasms | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0017636 | Glioblastoma | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C4721610 | Carcinoma, Ovarian Epithelial | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0409974 | Lupus Erythematosus | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C0004114 | Astrocytoma | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
| C1140680 | Malignant neoplasm of ovary | BDH2 | 56898 | 3-hydroxybutyrate dehydrogenase 2 | Q9BUT1 |
