Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
CD38 P28907 CD38 molecule Enzyme 2.3E-06 0.407 0.885
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
KDM6B O15054 lysine demethylase 6B Epigenetic regulator 1.00 0.514 0.808
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769