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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 ▲ |
|---|---|---|---|---|---|
| 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 |
| C0153452 | Malignant neoplasm of gallbladder | FKTN | 2218 | fukutin | O75072 |
| C0037822 | Speech Disorders | FKTN | 2218 | fukutin | O75072 |
| C1956257 | Pulmonary Stenosis | FKTN | 2218 | fukutin | O75072 |
| C0206157 | Myopathies, Nemaline | FKTN | 2218 | fukutin | O75072 |
| C3665347 | Visual Impairment | FKTN | 2218 | fukutin | O75072 |
| 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 |
| C0948008 | Ischemic stroke | XYLB | 9942 | xylulokinase | O75191 |
