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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 |
|---|---|---|---|---|---|
| C0037773 | Spastic Paraplegia, Hereditary | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0025958 | Microcephaly | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0282529 | Chondrodysplasia Punctata, Rhizomelic | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| C0013595 | Eczema | FAR1 | 84188 | fatty acyl-CoA reductase 1 | Q8WVX9 |
| 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 |
| C0162429 | Malnutrition | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0010054 | Coronary Arteriosclerosis | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C1306459 | Primary malignant neoplasm | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0432215 | Progressive pseudorheumatoid dysplasia | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0346629 | Malignant neoplasm of large intestine | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0003873 | Rheumatoid Arthritis | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0278878 | Adult Glioblastoma | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0699791 | Stomach Carcinoma | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C1956346 | Coronary Artery Disease | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0041696 | Unipolar Depression | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0020676 | Hypothyroidism | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0007102 | Malignant tumor of colon | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0019158 | Hepatitis | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0009402 | Colorectal Carcinoma | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0242383 | Age related macular degeneration | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0011615 | Dermatitis, Atopic | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0005586 | Bipolar Disorder | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
