Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
GPC4 O75487 glypican 4 0.93 0.547 0.769
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
GPC3 P51654 glypican 3 1.00 0.466 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
YWHAE P62258 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon Chaperone 0.98 0.530 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
WASHC5 Q12768 WASH complex subunit 5 Transporter 8.3E-18 0.572 0.615
GRIN2A Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 1.00 0.522 0.808
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808