Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
ARHGEF2 Q92974 Rho/Rac guanine nucleotide exchange factor 2 1.00 0.502 0.769
ARHGEF9 O43307 Cdc42 guanine nucleotide exchange factor 9 Enzyme modulator 1.00 0.691 0.385
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARSD P51689 arylsulfatase D Enzyme 1.6E-03 0.535 0.808
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASH1L Q9NR48 ASH1 like histone lysine methyltransferase 1.00 0.623 0.577
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
CACNA1D Q01668 calcium voltage-gated channel subunit alpha1 D Ion channel 1.00 0.582 0.577
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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHRNA7 P36544 Q494W8 cholinergic receptor nicotinic alpha 7 subunit Ion channel 4.2E-04 0.532 0.654
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
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
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DMD P11532 dystrophin 1.00 0.423 0.923
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692