Disease: Short philtrum
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
SON P18583 SON DNA binding protein 1.00 0.565 0.769
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
XRCC4 Q13426 X-ray repair cross complementing 4 8.3E-07 0.528 0.769
TRRAP Q9Y4A5 transformation/transcription domain associated protein 1.00 0.572 0.692
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
PUS7 Q96PZ0 pseudouridine synthase 7 1.3E-09 0.769 0.308
TMEM237 Q96Q45 transmembrane protein 237 1.9E-12 0.612 0.538
PIGY Q3MUY2 phosphatidylinositol glycan anchor biosynthesis class Y 9.7E-02 0.628 0.577
TBC1D20 Q96BZ9 TBC1 domain family member 20 0.93 0.621 0.500
SH3PXD2B A1X283 SH3 and PX domains 2B 4.2E-03 0.631 0.577
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846
MEIS2 O14770 Meis homeobox 2 Enzyme 1.00 0.601 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538
PSMD12 O00232 proteasome 26S subunit, non-ATPase 12 Enzyme modulator 1.00 0.578 0.808
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577