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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 ▼ |
|---|---|---|---|---|---|
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | FKTN | 2218 | fukutin | O75072 |
| C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | FKTN | 2218 | fukutin | O75072 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | FKTN | 2218 | fukutin | O75072 |
| C1306459 | Primary malignant neoplasm | FKTN | 2218 | fukutin | O75072 |
| C0007193 | Cardiomyopathy, Dilated | FKTN | 2218 | fukutin | O75072 |
| C3714756 | Intellectual Disability | FKTN | 2218 | fukutin | O75072 |
| C0086543 | Cataract | FKTN | 2218 | fukutin | O75072 |
| C0020490 | Hyperopia | FKTN | 2218 | fukutin | O75072 |
| C1969040 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | FKTN | 2218 | fukutin | O75072 |
| C3536714 | Renal dysplasia | FKTN | 2218 | fukutin | O75072 |
| C0878544 | Cardiomyopathies | FKTN | 2218 | fukutin | O75072 |
| C0270962 | Multi-core congenital myopathy | FKTN | 2218 | fukutin | O75072 |
| C0026850 | Muscular Dystrophy | FKTN | 2218 | fukutin | O75072 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | FKTN | 2218 | fukutin | O75072 |
| C0575158 | Kyphoscoliosis deformity of spine | FKTN | 2218 | fukutin | O75072 |
| C0018802 | Congestive heart failure | FKTN | 2218 | fukutin | O75072 |
| C2875316 | Myotubular (centronuclear) myopathy | FKTN | 2218 | fukutin | O75072 |
| C0023787 | Lipodystrophy | FKTN | 2218 | fukutin | O75072 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | FKTN | 2218 | fukutin | O75072 |
| C0699743 | Congenital muscular dystrophy (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0520947 | Clumsiness - motor delay | FKTN | 2218 | fukutin | O75072 |
| C0026010 | Microphthalmos | FKTN | 2218 | fukutin | O75072 |
| C0008924 | Cleft upper lip | FKTN | 2218 | fukutin | O75072 |
| C0221356 | Brachycephaly | FKTN | 2218 | fukutin | O75072 |
| C0020302 | Hydrophthalmos | FKTN | 2218 | fukutin | O75072 |
