Disease: Midface retrusion
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
ELN P15502 elastin 2.1E-14 0.415 0.885
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
IL1RAPL1 Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 1.00 0.617 0.692
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MLXIPL Q9NP71 MLX interacting protein like 4.8E-02 0.554 0.731
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
PDE4D Q08499 phosphodiesterase 4D 1.00 0.519 0.846
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
PTCH1 Q13635 patched 1 1.00 0.398 0.885
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808