Disease: Intellectual Disability
Source: CURATED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SCAMP5 Q8TAC9 secretory carrier membrane protein 5 Enzyme 0.65 0.839 0.192
CSDE1 O75534 cold shock domain containing E1 1.00 0.769 0.308
NRXN2 P58401 Q9P2S2 neurexin 2 1.00 0.769 0.308
GABRA2 P47869 gamma-aminobutyric acid type A receptor subunit alpha2 Ion channel 1.00 0.641 0.346
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
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
MTF1 Q14872 metal regulatory transcription factor 1 Transcription factor 0.97 0.751 0.500
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
NBEA Q8NFP9 neurobeachin 1.00 0.760 0.538
GRIA1 P42261 glutamate ionotropic receptor AMPA type subunit 1 Ion channel 1.00 0.570 0.577
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
AGO1 Q9UL18 argonaute RISC component 1 1.00 0.656 0.577
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
TCN2 P20062 transcobalamin 2 1.0E-06 0.578 0.615
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
KAT8 Q9H7Z6 lysine acetyltransferase 8 0.22 0.592 0.654
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
NTF4 P34130 neurotrophin 4 Signaling 1.2E-02 0.644 0.692
TRRAP Q9Y4A5 transformation/transcription domain associated protein 1.00 0.572 0.692
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692