Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
L1CAM P32004 L1 cell adhesion molecule 1.00 0.475 0.769
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
MCPH1 Q8NEM0 microcephalin 1 Nucleic acid binding 7.8E-30 0.540 0.846
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
CACNA1G O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 1.00 0.590 0.577
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692