| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Aortic Aneurysm, Familial Thoracic 1 | NOTCH1 | disease | C0345050 | Biomarker | 0.3 | disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | MYLK | disease | C0345050 | Biomarker | 0.3 | orphanet , disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | SMAD3 | disease | C0345050 | SusceptibilityMutation | 0.13 | orphanet , disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | FBN1 | disease | C0345050 | GeneticVariation | 0.13 | orphanet , disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | FBN1 | disease | C0345050 | Biomarker | 0.13 | orphanet , disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | SMAD3 | disease | C0345050 | GeneticVariation | 0.13 | orphanet , disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | FOXE3 | disease | C0345050 | GeneticVariation | 0.1 | orphanet , disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | COL3A1 | disease | C0345050 | SusceptibilityMutation | 0.1 | orphanet , disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | SRFBP1 | disease | C0345050 | CausalMutation | 0.1 | disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | LOX | disease | C0345050 | CausalMutation | 0.1 | orphanet , disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | TGFBR2 | disease | C0345050 | GeneticVariation | 0.03 | orphanet , disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | MYH11 | disease | C0345050 | Biomarker | 0.03 | orphanet , disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | MYH11 | disease | C0345050 | GeneticVariation | 0.03 | orphanet , disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | ACTA2 | disease | C0345050 | GeneticVariation | 0.03 | orphanet , disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | AAT1 | disease | C0345050 | Biomarker | 0.02 | disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | AAT1 | disease | C0345050 | GeneticVariation | 0.02 | disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | PPARG | disease | C0345050 | AlteredExpression | 0.01 | disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | MMP3 | disease | C0345050 | AlteredExpression | 0.01 | disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | EFEMP2 | disease | C0345050 | GeneticVariation | 0.01 | disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | ACTB | disease | C0345050 | GeneticVariation | 0.01 | disgenet |
| Aortic Aneurysm, Familial Thoracic 1 | TGFB2 | NA | C0345050 | NA | NA | orphanet |
| Aortic Aneurysm, Familial Thoracic 1 | SMAD2 | NA | C0345050 | NA | NA | orphanet |
| Aortic Aneurysm, Familial Thoracic 1 | TGFB3 | NA | C0345050 | NA | NA | orphanet |
| Aortic Aneurysm, Familial Thoracic 1 | MFAP5 | NA | C0345050 | NA | NA | orphanet |
| Aortic Aneurysm, Familial Thoracic 1 | ELN | NA | C0345050 | NA | NA | orphanet |
| Aortic Aneurysm, Familial Thoracic 1 | SMAD4 | NA | C0345050 | NA | NA | orphanet |
| Aortic Aneurysm, Familial Thoracic 1 | TGFBR1 | NA | C0345050 | NA | NA | orphanet |
| Aortic Aneurysm, Familial Thoracic 1 | MAT2A | NA | C0345050 | NA | NA | orphanet |
| Aortic Aneurysm, Familial Thoracic 1 | HEY2 | NA | C0345050 | NA | NA | orphanet |
| Aortic Aneurysm, Familial Thoracic 1 | PRKG1 | NA | C0345050 | NA | NA | orphanet |
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