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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 ▼ |
|---|---|---|---|---|---|
| C0154251 | Lipid Metabolism Disorders | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0268151 | Classical galactosemia | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C2931826 | Potassium aggravated myotonia | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0023903 | Liver neoplasms | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C2931187 | Nephropathic cystinosis | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0033740 | Protozoan Infections | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0423775 | Scurfiness of scalp | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0086543 | Cataract | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0221244 | Seborrheic dermatitis of scalp | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | ST3GAL2 | 6483 | ST3 beta-galactoside alpha-2,3-sialyltransferase 2 | Q16842 |
| C0086651 | Mucopolysaccharidosis, MPS-IV-A | ST3GAL2 | 6483 | ST3 beta-galactoside alpha-2,3-sialyltransferase 2 | Q16842 |
| C3160718 | PARKINSON DISEASE, LATE-ONSET | ST3GAL2 | 6483 | ST3 beta-galactoside alpha-2,3-sialyltransferase 2 | Q16842 |
| C0007134 | Renal Cell Carcinoma | ST3GAL2 | 6483 | ST3 beta-galactoside alpha-2,3-sialyltransferase 2 | Q16842 |
| C1864948 | Hyperinsulinemic Hypoglycemia, Familial, 4 | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0028754 | Obesity | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0018801 | Heart failure | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C1291230 | 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0220994 | Hyperammonemia | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C3888018 | Congenital Hyperinsulinism | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0020617 | Hypoglycemic coma | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0020615 | Hypoglycemia | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C3714756 | Intellectual Disability | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0020459 | Hyperinsulinism | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0282528 | Peroxisomal Disorders | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0018802 | Congestive heart failure | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
