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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 ▲ |
|---|---|---|---|---|---|
| C0019196 | Hepatitis C | SDC3 | 9672 | syndecan 3 | O75056 |
| 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 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | FKTN | 2218 | fukutin | O75072 |
| C0003466 | Anus, Imperforate | FKTN | 2218 | fukutin | O75072 |
| C0521694 | Atrophic retina | FKTN | 2218 | fukutin | O75072 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | FKTN | 2218 | fukutin | O75072 |
| C0006826 | Malignant Neoplasms | FKTN | 2218 | fukutin | O75072 |
| C0025362 | Mental Retardation | FKTN | 2218 | fukutin | O75072 |
| 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 |
