Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GAMT Q14353 guanidinoacetate N-methyltransferase 9.5E-03 0.691 0.269
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
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PTCH1 Q13635 patched 1 1.00 0.398 0.885
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
ERLIN2 O94905 ER lipid raft associated 2 6.7E-04 0.647 0.500
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
LINS1 Q8NG48 lines homolog 1 2.4E-07 0.691 0.231
PLEKHG2 Q9H7P9 pleckstrin homology and RhoGEF domain containing G2 1.4E-09 0.705 0.423
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
UROC1 Q96N76 urocanate hydratase 1 2.1E-15 0.780 0.385
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
EZR P15311 ezrin Cellular structure 0.18 0.476 0.808
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769