Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808
ANOS1 P23352 anosmin 1 1.00 0.537 0.769
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD4 Q14839 chromodomain helicase DNA binding protein 4 1.00 0.593 0.654
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CNOT3 O75175 CCR4-NOT transcription complex subunit 3 Transcription factor 1.00 0.686 0.615
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSNK2A1 P68400 casein kinase 2 alpha 1 Kinase 0.99 0.597 0.731
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
DOCK3 Q8IZD9 dedicator of cytokinesis 3 1.00 0.619 0.692
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808