Disease: Intellectual Disability
Source: CURATED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
CALCA P01258 P06881 calcitonin related polypeptide alpha Signaling 1.6E-02 0.416 0.923
VIP P01282 vasoactive intestinal peptide Signaling 4.2E-04 0.437 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
PAX6 P26367 paired box 6 1.00 0.450 0.769
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
DLL1 O00548 delta like canonical Notch ligand 1 1.00 0.492 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
NR4A2 P43354 nuclear receptor subfamily 4 group A member 2 Nuclear receptor 1.00 0.529 0.846
RORA P35398 RAR related orphan receptor A Nuclear receptor 0.40 0.533 0.808
DISC1 Q9NRI5 DISC1 scaffold protein 1.7E-06 0.548 0.769
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
MCC P23508 MCC regulator of WNT signaling pathway 4.7E-16 0.568 0.731
GRIA1 P42261 glutamate ionotropic receptor AMPA type subunit 1 Ion channel 1.00 0.570 0.577
TRRAP Q9Y4A5 transformation/transcription domain associated protein 1.00 0.572 0.692
TCN2 P20062 transcobalamin 2 1.0E-06 0.578 0.615
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538