Disease: Arachnodactyly
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
CHST14 Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 0.45 0.638 0.654
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
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
FOXE3 Q13461 forkhead box E3 Transcription factor 0.18 0.568 0.654
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769
LOX P28300 lysyl oxidase 0.99 0.447 0.846
MAT2A P31153 methionine adenosyltransferase 2A Enzyme 1.00 0.615 0.654
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
PRDM5 Q9NQX1 PR/SET domain 5 3.6E-10 0.621 0.654
PRKG1 Q13976 protein kinase cGMP-dependent 1 Kinase 1.00 0.603 0.769
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
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
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654