Disease: Frontal bossing
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ANTXR1 Q9H6X2 ANTXR cell adhesion molecule 1 Receptor 0.99 0.584 0.731
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
COL10A1 Q03692 collagen type X alpha 1 chain Extracellular structure 3.0E-05 0.619 0.500
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
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731
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
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577
IFT122 Q9HBG6 intraflagellar transport 122 2.4E-24 0.560 0.846
IFT43 Q96FT9 intraflagellar transport 43 1.8E-11 0.617 0.577
IFT52 Q9Y366 intraflagellar transport 52 2.0E-06 0.653 0.538