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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 ▼ |
|---|---|---|---|---|---|
| C0011265 | Presenile dementia | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0750901 | Alzheimer Disease, Early Onset | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0238111 | Lennox-Gastaut syndrome | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0242383 | Age related macular degeneration | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C1621958 | Glioblastoma Multiforme | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0026769 | Multiple Sclerosis | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0017636 | Glioblastoma | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0014070 | Encephalomyelitis | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0276496 | Familial Alzheimer Disease (FAD) | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0011570 | Mental Depression | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0011581 | Depressive disorder | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0524620 | Metabolic Syndrome X | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0018790 | Cardiac Arrest | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0027651 | Neoplasms | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C3150415 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0038379 | Strabismus | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0699743 | Congenital muscular dystrophy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0006118 | Brain Neoplasms | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3714756 | Intellectual Disability | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0520947 | Clumsiness - motor delay | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0026850 | Muscular Dystrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
