Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
AP4S1 Q9Y587 adaptor related protein complex 4 subunit sigma 1 Transporter 1.7E-06 0.674 0.385
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
CACNA1G O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 1.00 0.590 0.577
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
DCX O43602 doublecortin 0.30 0.511 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GCK P35557 glucokinase Kinase 0.63 0.523 0.808
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
HTT P42858 huntingtin 1.00 0.548 0.654
INS P01308 insulin 0.30 0.445 0.923
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
LIPT1 Q9Y234 lipoyltransferase 1 Enzyme 3.8E-08 0.674 0.462
MBOAT7 Q96N66 membrane bound O-acyltransferase domain containing 7 Enzyme 0.11 0.612 0.500
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
NDUFS2 O75306 NADH:ubiquinone oxidoreductase core subunit S2 Enzyme 1.4E-03 0.601 0.654
NEXMIF Q5QGS0 neurite extension and migration factor 1.00 0.659 0.385
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846