Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
GPC4 O75487 glypican 4 0.93 0.547 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
GPC3 P51654 glypican 3 1.00 0.466 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
YWHAE P62258 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon Chaperone 0.98 0.530 0.692
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
GRIN2A Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 1.00 0.522 0.808