Table 1 Analyzed genes
No. | Gene | OMIM # | Inheritance |
|---|---|---|---|
1 | ACTA2 | 102620 | AD |
2 | ADAMTS10 | 608990 | AR |
3 | CBS | 613381 | AR |
4 | COL1A1 | 120150 | AD |
5 | COL3A1 | 120180 | AD |
6 | COL5A1 | 120215 | AD |
7 | COL5A2 | 120190 | AD |
8 | EFEMP2 | 604633 | AR |
9 | ELN | 130160 | AD |
10 | FBLN5 | 604580 | AR |
11 | FBN1 | 134797 | AD |
12 | FBN2 | 612570 | AD |
13 | FLNA | 300017 | XL |
14 | HCN4 | 605206 | AD |
15 | LTBP2 | 602091 | AR |
16 | MAT2A | 601468 | AD |
17 | MFAP5 | 601103 | AD |
18 | MYH11 | 160745 | AD |
19 | MYLK | 600922 | AD |
20 | NOTCH1 | 190198 | AD |
21 | NUP43 | 608141 | AD |
22 | PLOD1 | 153454 | AR |
23 | PRKG1 | 176894 | AD |
24 | SKI | 164780 | AD |
25 | SLC2A10 | 606145 | AR |
26 | SMAD3 | 603109 | AD |
27 | TGFB2 | 190220 | AD |
28 | TGFB3 | 190230 | AD |
29 | TGFBR1 | 190181 | AD |
30 | TGFBR2 | 190182 | AD |