Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MSL3 Q8N5Y2 MSL complex subunit 3 Nucleic acid binding 1.00 0.861 0.115
H1-4 P10412 H1.4 linker histone, cluster member Nucleic acid binding 0.19 0.682 0.385
MAST1 Q9Y2H9 microtubule associated serine/threonine kinase 1 Kinase 1.00 0.711 0.385
KMT5B Q4FZB7 lysine methyltransferase 5B Epigenetic regulator 1.00 0.736 0.423
RPS23 P62266 ribosomal protein S23 Nucleic acid binding 0.86 0.700 0.500
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
GPT2 Q8TD30 glutamic--pyruvic transaminase 2 Enzyme 3.4E-04 0.650 0.577
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
CNOT3 O75175 CCR4-NOT transcription complex subunit 3 Transcription factor 1.00 0.686 0.615
SETD1A O15047 SET domain containing 1A, histone lysine methyltransferase 1.00 0.619 0.615
SMCHD1 A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 1.00 0.631 0.615
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
CHD4 Q14839 chromodomain helicase DNA binding protein 4 1.00 0.593 0.654
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
NDN Q99608 necdin, MAGE family member Nucleic acid binding 0.67 0.578 0.654
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
DOCK3 Q8IZD9 dedicator of cytokinesis 3 1.00 0.619 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
UBE3A Q05086 ubiquitin protein ligase E3A 1.00 0.561 0.692