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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C3151407 | SPERMATOGENIC FAILURE 9 | DPY19L2 | 283417 | dpy-19 like 2 | Q6NUT2 |
| C0403825 | Globozoospermia | DPY19L2 | 283417 | dpy-19 like 2 | Q6NUT2 |
| C0678222 | Breast Carcinoma | GPAT2 | 150763 | glycerol-3-phosphate acyltransferase 2, mitochondrial | Q6NUI2 |
| C0027651 | Neoplasms | GPAT2 | 150763 | glycerol-3-phosphate acyltransferase 2, mitochondrial | Q6NUI2 |
| C0006142 | Malignant neoplasm of breast | GPAT2 | 150763 | glycerol-3-phosphate acyltransferase 2, mitochondrial | Q6NUI2 |
| C0025202 | melanoma | GPAT2 | 150763 | glycerol-3-phosphate acyltransferase 2, mitochondrial | Q6NUI2 |
| C1527231 | Adrenomyeloneuropathy | GPAT2 | 150763 | glycerol-3-phosphate acyltransferase 2, mitochondrial | Q6NUI2 |
| C0036572 | Seizures | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0013421 | Dystonia | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0040034 | Thrombocytopenia | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0015934 | Fetal Growth Retardation | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0242422 | Parkinsonian Disorders | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0149931 | Migraine Disorders | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0233794 | Memory impairment | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0008489 | Chorea | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0524851 | Neurodegenerative Disorders | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0010038 | Corneal Opacity | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
