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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 ▲ |
|---|---|---|---|---|---|
| C0751951 | Central Core Myopathy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0009081 | Congenital clubfoot | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0270960 | Congenital myopathy (disorder) | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0002395 | Alzheimer's Disease | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0494463 | Alzheimer Disease, Late Onset | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0949664 | Tauopathies | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0006111 | Brain Diseases | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0002726 | Amyloidosis | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0339573 | Glaucoma, Primary Open Angle | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0007820 | Cerebrovascular Disorders | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0344315 | Depressed mood | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0009402 | Colorectal Carcinoma | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0278878 | Adult Glioblastoma | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0524851 | Neurodegenerative Disorders | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| C0020179 | Huntington Disease | CYP46A1 | 10858 | cytochrome P450 family 46 subfamily A member 1 | Q9Y6A2 |
| 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 |
