Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
SRGAP3 O43295 SLIT-ROBO Rho GTPase activating protein 3 Enzyme modulator 1.00 0.711 0.346
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615
CACNA1G O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 1.00 0.590 0.577
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
ERLIN2 O94905 ER lipid raft associated 2 6.7E-04 0.647 0.500
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
EZR P15311 ezrin Cellular structure 0.18 0.476 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
NDST1 P52848 N-deacetylase and N-sulfotransferase 1 1.00 0.608 0.692
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PTCH1 Q13635 patched 1 1.00 0.398 0.885
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
GAMT Q14353 guanidinoacetate N-methyltransferase 9.5E-03 0.691 0.269