Disease: Familial thoracic aortic aneurysm and aortic dissection
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTA2 P62736 actin alpha 2, smooth muscle Cellular structure 0.93 0.508 0.846
BGN P21810 biglycan 0.45 0.484 0.808
ELN P15502 elastin 2.1E-14 0.415 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
LOX P28300 lysyl oxidase 0.99 0.447 0.846
MFAP5 Q13361 microfibril associated protein 5 5.1E-03 0.590 0.615
MYH11 P35749 myosin heavy chain 11 0.77 0.528 0.731
MYLK Q15746 myosin light chain kinase Kinase 9.2E-12 0.510 0.846
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PRKG1 Q13976 protein kinase cGMP-dependent 1 Kinase 1.00 0.603 0.769
SMAD3 P84022 SMAD family member 3 Transcription factor 0.80 0.415 0.923
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808
TGFB2 P61812 transforming growth factor beta 2 Signaling 1.00 0.433 0.885
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846