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
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
COL5A2 P05997 collagen type V alpha 2 chain 1.00 0.568 0.731
EFEMP2 O95967 EGF containing fibulin extracellular matrix protein 2 Calcium-binding protein 8.2E-03 0.559 0.692
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
FLNA P21333 filamin A 1.00 0.419 0.846
FOXE3 Q13461 forkhead box E3 Transcription factor 0.18 0.568 0.654
LOX P28300 lysyl oxidase 0.99 0.447 0.846
MAT2A P31153 methionine adenosyltransferase 2A Enzyme 1.00 0.615 0.654
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
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
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
PRKG1 Q13976 protein kinase cGMP-dependent 1 Kinase 1.00 0.603 0.769
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
SLC2A10 O95528 solute carrier family 2 member 10 Transporter 1.6E-08 0.550 0.615
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