Disease: Intellectual Disability
Source: CURATED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
AGO1 Q9UL18 argonaute RISC component 1 1.00 0.656 0.577
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
CALCA P01258 P06881 calcitonin related polypeptide alpha Signaling 1.6E-02 0.416 0.923
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
CSDE1 O75534 cold shock domain containing E1 1.00 0.769 0.308
DLL1 O00548 delta like canonical Notch ligand 1 1.00 0.492 0.808
DISC1 Q9NRI5 DISC1 scaffold protein 1.7E-06 0.548 0.769
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
GABRA2 P47869 gamma-aminobutyric acid type A receptor subunit alpha2 Ion channel 1.00 0.641 0.346
GRIA1 P42261 glutamate ionotropic receptor AMPA type subunit 1 Ion channel 1.00 0.570 0.577
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
KAT8 Q9H7Z6 lysine acetyltransferase 8 0.22 0.592 0.654
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
MCC P23508 MCC regulator of WNT signaling pathway 4.7E-16 0.568 0.731
MTF1 Q14872 metal regulatory transcription factor 1 Transcription factor 0.97 0.751 0.500
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
NRXN2 P58401 Q9P2S2 neurexin 2 1.00 0.769 0.308