Disease: Severe intellectual disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FRRS1L Q9P0K9 ferric chelate reductase 1 like 1.5E-03 0.666 0.231
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
GRIK2 Q13002 glutamate ionotropic receptor kainate type subunit 2 Ion channel 1.00 0.561 0.769
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HNMT P50135 histamine N-methyltransferase 2.0E-02 0.579 0.808
IL1B P01584 interleukin 1 beta 0.13 0.276 0.962
IL6 P05231 interleukin 6 0.32 0.248 0.962
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
KCNJ11 Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 1.1E-02 0.529 0.615
KDM5B Q9UGL1 lysine demethylase 5B Epigenetic regulator 7.9E-15 0.532 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LINS1 Q8NG48 lines homolog 1 2.4E-07 0.691 0.231
LMAN2L Q9H0V9 lectin, mannose binding 2 like Transporter 2.0E-11 0.641 0.385
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
MAOA P21397 monoamine oxidase A 1.00 0.465 0.769
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
MBOAT7 Q96N66 membrane bound O-acyltransferase domain containing 7 Enzyme 0.11 0.612 0.500
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED23 Q9ULK4 mediator complex subunit 23 3.1E-08 0.612 0.654
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769