Disease: Moderate 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
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 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
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423
FAM126A Q9BYI3 family with sequence similarity 126 member A 0.12 0.682 0.423
FRAXE fragile site, folic acid type, rare, fra(X)(q28) E 0.636 0.462
SCAPER Q9BY12 S-phase cyclin A associated protein in the ER 8.8E-03 0.653 0.500
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
TBCD Q9BTW9 tubulin folding cofactor D Cellular structure 1.0E-07 0.599 0.615
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
NDST1 P52848 N-deacetylase and N-sulfotransferase 1 1.00 0.608 0.692
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
ENTPD1 P49961 ectonucleoside triphosphate diphosphohydrolase 1 Enzyme 8.1E-03 0.499 0.769
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
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769