Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
AP4E1 Q9UPM8 adaptor related protein complex 4 subunit epsilon 1 Receptor 2.8E-03 0.656 0.385
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808
CACNA1G O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 1.00 0.590 0.577
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
ERLIN2 O94905 ER lipid raft associated 2 6.7E-04 0.647 0.500
EZR P15311 ezrin Cellular structure 0.18 0.476 0.808
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
GAMT Q14353 guanidinoacetate N-methyltransferase 9.5E-03 0.691 0.269
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
L2HGDH Q9H9P8 L-2-hydroxyglutarate dehydrogenase Enzyme 4.2E-05 0.653 0.462
LARP7 Q4G0J3 La ribonucleoprotein 7, transcriptional regulator Nucleic acid binding 9.3E-08 0.674 0.615
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
LINS1 Q8NG48 lines homolog 1 2.4E-07 0.691 0.231
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
MFSD2A Q8NA29 major facilitator superfamily domain containing 2A Transporter 1.1E-02 0.626 0.538
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577