Disease: Midface retrusion
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
WNT5A P41221 Wnt family member 5A Signaling 0.99 0.443 0.808
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
SP7 Q8TDD2 Sp7 transcription factor Nucleic acid binding 0.58 0.711 0.462
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
SERPINH1 P50454 serpin family H member 1 Enzyme modulator 2.8E-02 0.545 0.769
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
PYCR1 P32322 pyrroline-5-carboxylate reductase 1 2.0E-04 0.570 0.654
POU1F1 P28069 POU class 1 homeobox 1 4.5E-02 0.548 0.654
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769
PDGFRB P09619 platelet derived growth factor receptor beta Kinase 0.90 0.416 0.846
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PITX2 Q99697 paired like homeodomain 2 0.98 0.489 0.808
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
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
LRPPRC P42704 leucine rich pentatricopeptide repeat containing 2.3E-10 0.493 0.769
LBR Q14739 lamin B receptor Enzyme 0.18 0.473 0.808
LMNA P02545 lamin A/C 1.00 0.384 0.885
IARS2 Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 8.1E-02 0.590 0.654