Disease Annotation
Gene Info
- Species:Human (Homo sapiens)
- GeneID:2200
- Symbol:FBN1
- Description:fibrillin 1
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| Disease_Term | Source | Rank | Other Values | Weill-Marchesani syndrome 2, dominant, 608328 (3) | OMIM | high |
| Williams-Beuren syndrome (4) | OMIM | high |
| Marfan lipodystrophy syndrome, 616914 (3) | OMIM | high |
| Stiff skin syndrome, 184900 (3) | OMIM | high |
| Ectopia lentis, familial, 129600 (3) | OMIM | high |
| Marfan syndrome, 154700 (3) | OMIM | high |
| Acromicric dysplasia, 102370 (3) | OMIM | high |
| Geleophysic dysplasia 2, 614185 (3) | OMIM | high |
| MASS syndrome, 604308 (3) | OMIM | high |
| Aortic aneurysm, ascending, and dissection (3) | OMIM | high |
| Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy) | GWAS | high |
| Spherical equivalent (joint main effects and education interaction) | GWAS | high |
| Breast cancer | GWAS | high |
| Thoracic aortic aneurysms and dissections | GWAS | high |
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