Disease: Profound Mental Retardation
Source: CURATED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
MCC P23508 MCC regulator of WNT signaling pathway 4.7E-16 0.568 0.731
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385
DISC1 Q9NRI5 DISC1 scaffold protein 1.7E-06 0.548 0.769
VIP P01282 vasoactive intestinal peptide Signaling 4.2E-04 0.437 0.846
NTF4 P34130 neurotrophin 4 Signaling 1.2E-02 0.644 0.692
CALCA P01258 P06881 calcitonin related polypeptide alpha Signaling 1.6E-02 0.416 0.923
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
PTCHD1 Q96NR3 patched domain containing 1 Receptor 0.98 0.678 0.385
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
PAX6 P26367 paired box 6 1.00 0.450 0.769
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
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
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731