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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 ▼ |
|---|---|---|---|---|---|
| C3150412 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0036572 | Seizures | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0878544 | Cardiomyopathies | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3536714 | Renal dysplasia | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0038379 | Strabismus | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0029124 | Optic Atrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0241005 | Creatine phosphokinase serum increased | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0344530 | Congenital keratoglobus | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1869123 | Limb-girdle muscular dystrophy type 2A | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0231528 | Myalgia | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0035334 | Retinitis Pigmentosa | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C2936332 | Alpha-Sarcoglycanopathies | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0025362 | Mental Retardation | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0270968 | Limb-girdle muscular dystrophy type 2H | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0079541 | Holoprosencephaly | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0233794 | Memory impairment | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0008925 | Cleft Palate | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0456909 | Blindness | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0008924 | Cleft upper lip | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0854723 | Retinal Dystrophies | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C2875316 | Myotubular (centronuclear) myopathy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0009363 | Congenital ocular coloboma (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0036439 | Scoliosis, unspecified | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1531647 | Cerebral ventriculomegaly | FKRP | 79147 | fukutin related protein | Q9H9S5 |
