Disease: Frontal bossing
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
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
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CDKN1C P49918 cyclin dependent kinase inhibitor 1C 0.82 0.456 0.846
CHD1 O14646 chromodomain helicase DNA binding protein 1 1.00 0.628 0.692
CKAP2L Q8IYA6 cytoskeleton associated protein 2 like 1.6E-04 0.666 0.577
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
CYP27B1 O15528 cytochrome P450 family 27 subfamily B member 1 Enzyme 1.9E-07 0.502 0.769
CYP2R1 Q6VVX0 cytochrome P450 family 2 subfamily R member 1 3.8E-10 0.563 0.731
EBP Q15125 EBP cholestenol delta-isomerase Enzyme 0.94 0.494 0.846
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
EPB41 P11171 erythrocyte membrane protein band 4.1 3.6E-05 0.691 0.500
FLNA P21333 filamin A 1.00 0.419 0.846
GYPC P04921 glycophorin C (Gerbich blood group) 0.11 0.641 0.654
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808