Disease: Moderate intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CC2D1A Q6P1N0 coiled-coil and C2 domain containing 1A 8.5E-03 0.628 0.462
CLIP1 P30622 CAP-Gly domain containing linker protein 1 Cellular structure 0.68 0.617 0.654
CNKSR2 Q8WXI2 connector enhancer of kinase suppressor of Ras 2 1.00 0.628 0.538
CRADD P78560 CASP2 and RIPK1 domain containing adaptor with death domain 0.88 0.619 0.500
CRBN Q96SW2 cereblon Enzyme 2.9E-04 0.551 0.654
DCPS Q96C86 decapping enzyme, scavenger Enzyme 2.5E-07 0.612 0.538
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
EDC3 Q96F86 enhancer of mRNA decapping 3 2.6E-02 0.682 0.308
EZR P15311 ezrin Cellular structure 0.18 0.476 0.808
FBXO31 Q5XUX0 F-box protein 31 0.44 0.653 0.423
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FRRS1L Q9P0K9 ferric chelate reductase 1 like 1.5E-03 0.666 0.231
GRIK2 Q13002 glutamate ionotropic receptor kainate type subunit 2 Ion channel 1.00 0.561 0.769
GRIN2A Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 1.00 0.522 0.808
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692