Disease: Mental Retardation
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AGTR2 P50052 angiotensin II receptor type 2 G-protein coupled receptor 8.2E-03 0.496 0.808
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
CA8 P35219 carbonic anhydrase 8 8.3E-03 0.595 0.654
CD38 P28907 CD38 molecule Enzyme 2.3E-06 0.407 0.885
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHL1 O00533 cell adhesion molecule L1 like 8.9E-12 0.603 0.654
DOCK8 Q8NF50 dedicator of cytokinesis 8 Enzyme modulator 1.5E-11 0.578 0.731
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
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
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769