Disease: Moderate intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FRAXE fragile site, folic acid type, rare, fra(X)(q28) E 0.636 0.462
NDST1 P52848 N-deacetylase and N-sulfotransferase 1 1.00 0.608 0.692
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
SCAPER Q9BY12 S-phase cyclin A associated protein in the ER 8.8E-03 0.653 0.500
LINS1 Q8NG48 lines homolog 1 2.4E-07 0.691 0.231
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
FAM126A Q9BYI3 family with sequence similarity 126 member A 0.12 0.682 0.423
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
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
TBCD Q9BTW9 tubulin folding cofactor D Cellular structure 1.0E-07 0.599 0.615
EZR P15311 ezrin Cellular structure 0.18 0.476 0.808
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
ENTPD1 P49961 ectonucleoside triphosphate diphosphohydrolase 1 Enzyme 8.1E-03 0.499 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SNX14 Q9Y5W7 sorting nexin 14 Enzyme modulator 6.1E-17 0.659 0.423
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808