Disease: Severe global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
GEMIN4 P57678 gem nuclear organelle associated protein 4 5.9E-13 0.565 0.808
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NTRK2 Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 1.00 0.479 0.808
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
TSEN54 Q7Z6J9 tRNA splicing endonuclease subunit 54 1.8E-07 0.659 0.500
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654