Disease: Frontal bossing
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
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
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
CCDC8 Q9H0W5 coiled-coil domain containing 8 0.25 0.599 0.692
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
CLCN7 P51798 chloride voltage-gated channel 7 Ion channel 0.27 0.590 0.731
CTSK P43235 cathepsin K Enzyme 3.1E-05 0.497 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
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
DVL3 Q92997 dishevelled segment polarity protein 3 Signaling 0.39 0.537 0.731
EDA Q92838 ectodysplasin A 0.97 0.553 0.808
EDA2R Q9HAV5 ectodysplasin A2 receptor 5.5E-04 0.736 0.423
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FLNA P21333 filamin A 1.00 0.419 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
IKBKG Q9Y6K9 inhibitor of nuclear factor kappa B kinase regulatory subunit gamma Kinase 8.5E-02 0.493 0.769
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MMP2 P08253 matrix metallopeptidase 2 Enzyme 0.84 0.333 0.923
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308