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
CBS P0DN79 P35520 cystathionine beta-synthase Enzyme 3.1E-05 0.465 0.885
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 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
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808
LOX P28300 lysyl oxidase 0.99 0.447 0.846
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PKD1 P98161 polycystin 1, transient receptor potential channel interacting 1.00 0.493 0.769
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
SMAD3 P84022 SMAD family member 3 Transcription factor 0.80 0.415 0.923
TGFB2 P61812 transforming growth factor beta 2 Signaling 1.00 0.433 0.885
TGFB3 P10600 transforming growth factor beta 3 Signaling 0.99 0.498 0.808
TGFBR1 P36897 transforming growth factor beta receptor 1 Kinase 0.85 0.451 0.885
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846
VCAN P13611 versican Extracellular structure 1.00 0.497 0.808