Disease: Severe intellectual disability
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
PAK3 O75914 p21 (RAC1) activated kinase 3 Kinase 0.99 0.569 0.731
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
PHC1 P78364 polyhomeotic homolog 1 Nucleic acid binding 1.00 0.644 0.692
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
UBE3A Q05086 ubiquitin protein ligase E3A 1.00 0.561 0.692
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
PTCH1 Q13635 patched 1 1.00 0.398 0.885
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731