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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 ▼ |
|---|---|---|---|---|---|
| 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 |
| C0033860 | Psoriasis | FAM20B | 9917 | FAM20B glycosaminoglycan xylosylkinase | O75063 |
| C0013720 | Ehlers-Danlos Syndrome | FAM20B | 9917 | FAM20B glycosaminoglycan xylosylkinase | O75063 |
| C0432242 | Desbuquois syndrome | FAM20B | 9917 | FAM20B glycosaminoglycan xylosylkinase | O75063 |
| C0016034 | Breast Fibrocystic Disease | SDC3 | 9672 | syndecan 3 | O75056 |
| C0007134 | Renal Cell Carcinoma | SDC3 | 9672 | syndecan 3 | O75056 |
| C0013264 | Muscular Dystrophy, Duchenne | SDC3 | 9672 | syndecan 3 | O75056 |
| C0006826 | Malignant Neoplasms | SDC3 | 9672 | syndecan 3 | O75056 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | SDC3 | 9672 | syndecan 3 | O75056 |
| C2239176 | Liver carcinoma | SDC3 | 9672 | syndecan 3 | O75056 |
| C0027651 | Neoplasms | SDC3 | 9672 | syndecan 3 | O75056 |
| C0276496 | Familial Alzheimer Disease (FAD) | SDC3 | 9672 | syndecan 3 | O75056 |
