Disease: Short nose
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
GPC3 P51654 glypican 3 1.00 0.466 0.808
GPC4 O75487 glypican 4 0.93 0.547 0.769
GRIN2A Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 1.00 0.522 0.808
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731