Disease: Severe 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
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
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
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
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
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CIT O14578 citron rho-interacting serine/threonine kinase Kinase 1.00 0.555 0.692
CLIP1 P30622 CAP-Gly domain containing linker protein 1 Cellular structure 0.68 0.617 0.654
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
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
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
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
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654
EDC3 Q96F86 enhancer of mRNA decapping 3 2.6E-02 0.682 0.308
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
EZR P15311 ezrin Cellular structure 0.18 0.476 0.808