Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
ARFGEF2 Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 1.00 0.659 0.462
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
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BCAP31 P51572 B cell receptor associated protein 31 Transporter 0.43 0.579 0.808
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
CACNA1D Q01668 calcium voltage-gated channel subunit alpha1 D Ion channel 1.00 0.582 0.577
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
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
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CTNND2 Q9UQB3 catenin delta 2 Cellular structure 1.00 0.579 0.731
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769