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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 |
|---|---|---|---|---|---|
| C1869123 | Limb-girdle muscular dystrophy type 2A | FKTN | 2218 | fukutin | O75072 |
| C3150416 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | FKTN | 2218 | fukutin | O75072 |
| C3150412 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | FKTN | 2218 | fukutin | O75072 |
| C0018817 | Atrial Septal Defects | FKTN | 2218 | fukutin | O75072 |
| C0231528 | Myalgia | FKTN | 2218 | fukutin | O75072 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0344530 | Congenital keratoglobus | FKTN | 2218 | fukutin | O75072 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | FKTN | 2218 | fukutin | O75072 |
| C0036857 | Severe intellectual disability | FKTN | 2218 | fukutin | O75072 |
| C0546264 | Congenital Fiber Type Disproportion | FKTN | 2218 | fukutin | O75072 |
| C0027092 | Myopia | FKTN | 2218 | fukutin | O75072 |
| C0017601 | Glaucoma | FKTN | 2218 | fukutin | O75072 |
| C0010964 | Dandy-Walker Syndrome | FKTN | 2218 | fukutin | O75072 |
| C0038379 | Strabismus | FKTN | 2218 | fukutin | O75072 |
| C0024623 | Malignant neoplasm of stomach | FKTN | 2218 | fukutin | O75072 |
| C0015934 | Fetal Growth Retardation | FKTN | 2218 | fukutin | O75072 |
| C0235782 | Gallbladder Carcinoma | FKTN | 2218 | fukutin | O75072 |
| C0004114 | Astrocytoma | FKTN | 2218 | fukutin | O75072 |
| C1531647 | Cerebral ventriculomegaly | FKTN | 2218 | fukutin | O75072 |
| C0025958 | Microcephaly | FKTN | 2218 | fukutin | O75072 |
| C0010417 | Cryptorchidism | FKTN | 2218 | fukutin | O75072 |
| C0266551 | Congenital coloboma of iris | FKTN | 2218 | fukutin | O75072 |
| C0751951 | Central Core Myopathy (disorder) | FKTN | 2218 | fukutin | O75072 |
| C1861922 | CAMPOMELIC DYSPLASIA | FKTN | 2218 | fukutin | O75072 |
| C1261470 | Congenital meningocele | FKTN | 2218 | fukutin | O75072 |
