Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACSL4 O60488 acyl-CoA synthetase long chain family member 4 Enzyme 0.98 0.561 0.769
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
ARHGEF6 Q15052 Rac/Cdc42 guanine nucleotide exchange factor 6 1.00 0.678 0.462
ARHGEF9 O43307 Cdc42 guanine nucleotide exchange factor 9 Enzyme modulator 1.00 0.691 0.385
ARSD P51689 arylsulfatase D Enzyme 1.6E-03 0.535 0.808
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATR Q13535 ATR serine/threonine kinase Kinase 3.5E-09 0.456 0.923
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
DLG3 Q92796 discs large MAGUK scaffold protein 3 1.00 0.544 0.615
DMD P11532 dystrophin 1.00 0.423 0.923
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
FRAXA fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 0.641 0.462
FTSJ1 Q9UET6 FtsJ RNA 2'-O-methyltransferase 1 0.99 0.659 0.577
GDI1 P31150 GDP dissociation inhibitor 1 Enzyme 0.99 0.572 0.654
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
HCFC1 P51610 host cell factor C1 1.00 0.601 0.692
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IL1A P01583 interleukin 1 alpha 1.6E-04 0.333 0.962