Disease: Dysmorphic facies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
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
RAC1 P63000 Rac family small GTPase 1 Enzyme modulator 0.76 0.429 0.962
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
NKX2-1 P43699 NK2 homeobox 1 Transcription factor 0.36 0.457 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
EZR P15311 ezrin Cellular structure 0.18 0.476 0.808
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
SOX4 Q06945 SRY-box transcription factor 4 Transcription factor 0.93 0.489 0.808
SLC17A5 Q9NRA2 solute carrier family 17 member 5 Transporter 6.9E-10 0.491 0.808
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
SET Q01105 SET nuclear proto-oncogene Enzyme modulator 1.00 0.507 0.808
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885