Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACY1 Q03154 aminoacylase 1 6.9E-09 0.653 0.577
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
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
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308
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
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
CTSD P07339 cathepsin D Enzyme 9.2E-04 0.478 0.846
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
DMD P11532 dystrophin 1.00 0.423 0.923
DMPK Q09013 DM1 protein kinase Kinase 3.8E-02 0.603 0.692
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
DYNC1I2 Q13409 dynein cytoplasmic 1 intermediate chain 2 Cellular structure 1.1E-08 0.760 0.385