Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
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
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
ARHGEF6 Q15052 Rac/Cdc42 guanine nucleotide exchange factor 6 1.00 0.678 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
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
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
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
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308
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
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
CEP63 Q96MT8 centrosomal protein 63 Cellular structure 6.2E-25 0.666 0.500