Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
LINS1 Q8NG48 lines homolog 1 2.4E-07 0.691 0.231
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
GAMT Q14353 guanidinoacetate N-methyltransferase 9.5E-03 0.691 0.269
SRGAP3 O43295 SLIT-ROBO Rho GTPase activating protein 3 Enzyme modulator 1.00 0.711 0.346
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385
AP4E1 Q9UPM8 adaptor related protein complex 4 subunit epsilon 1 Receptor 2.8E-03 0.656 0.385
UROC1 Q96N76 urocanate hydratase 1 2.1E-15 0.780 0.385
PTCHD1 Q96NR3 patched domain containing 1 Receptor 0.98 0.678 0.385
SNX14 Q9Y5W7 sorting nexin 14 Enzyme modulator 6.1E-17 0.659 0.423
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
L2HGDH Q9H9P8 L-2-hydroxyglutarate dehydrogenase Enzyme 4.2E-05 0.653 0.462
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
ERLIN2 O94905 ER lipid raft associated 2 6.7E-04 0.647 0.500
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MFSD2A Q8NA29 major facilitator superfamily domain containing 2A Transporter 1.1E-02 0.626 0.538
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
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
LARP7 Q4G0J3 La ribonucleoprotein 7, transcriptional regulator Nucleic acid binding 9.3E-08 0.674 0.615
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654