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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 | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0028738 | Nystagmus | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C3665347 | Visual Impairment | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0019269 | Hermaphroditism | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0018784 | Sensorineural Hearing Loss (disorder) | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0235991 | Small for gestational age (disorder) | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0010417 | Cryptorchidism | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0009081 | Congenital clubfoot | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0020224 | Polyhydramnios | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C2931001 | Congenital disorder of glycosylation type 1G | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0282577 | Congenital Disorders of Glycosylation | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0016522 | Foramen Ovale, Patent | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0035334 | Retinitis Pigmentosa | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0013604 | Edema | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0020598 | Hypocalcemia | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0035305 | Retinal Detachment | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0013274 | Patent ductus arteriosus | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0848558 | Hypospadias | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C1837396 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C4317295 | Congenital disorder of glycosylation type 1s | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| 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 |
