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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 |
|---|---|---|---|---|---|
| C0018784 | Sensorineural Hearing Loss (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0035305 | Retinal Detachment | FKTN | 2218 | fukutin | O75072 |
| C0270960 | Congenital myopathy (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0854723 | Retinal Dystrophies | FKTN | 2218 | fukutin | O75072 |
| C0079541 | Holoprosencephaly | FKTN | 2218 | fukutin | O75072 |
| C0007194 | Hypertrophic Cardiomyopathy | FKTN | 2218 | fukutin | O75072 |
| C0020255 | Hydrocephalus | FKTN | 2218 | fukutin | O75072 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | FKTN | 2218 | fukutin | O75072 |
| C0456909 | Blindness | FKTN | 2218 | fukutin | O75072 |
| C1879312 | Agyria | FKTN | 2218 | fukutin | O75072 |
| C0036439 | Scoliosis, unspecified | FKTN | 2218 | fukutin | O75072 |
| C0006142 | Malignant neoplasm of breast | FKTN | 2218 | fukutin | O75072 |
| C3150415 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | FKTN | 2218 | fukutin | O75072 |
| C0040761 | Transposition of Great Vessels | FKTN | 2218 | fukutin | O75072 |
| C0009363 | Congenital ocular coloboma (disorder) | FKTN | 2218 | fukutin | O75072 |
| C0010038 | Corneal Opacity | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0699743 | Congenital muscular dystrophy (disorder) | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3809221 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1879312 | Agyria | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0018801 | Heart failure | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1846672 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C2751052 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
