Disease: Familial thoracic aortic aneurysm and aortic dissection
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
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
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
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
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
SKI P12755 SKI proto-oncogene 1.00 0.503 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
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