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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 |
|---|---|---|---|---|---|
| C1847759 | MUSCULAR DYSTROPHY, CONGENITAL, 1C | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0037822 | Speech Disorders | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0026850 | Muscular Dystrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0010964 | Dandy-Walker Syndrome | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0027868 | Neuromuscular Diseases | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0751951 | Central Core Myopathy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3150416 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0027121 | Myositis | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3714756 | Intellectual Disability | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0020255 | Hydrocephalus | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3150415 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0266551 | Congenital coloboma of iris | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0917713 | Becker Muscular Dystrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3150413 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0575158 | Kyphoscoliosis deformity of spine | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0026010 | Microphthalmos | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0035410 | Rhabdomyolysis | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0520947 | Clumsiness - motor delay | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0017601 | Glaucoma | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0270960 | Congenital myopathy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0035305 | Retinal Detachment | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0018802 | Congestive heart failure | FKRP | 79147 | fukutin related protein | Q9H9S5 |
