Disease: Global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CDK8 P49336 cyclin dependent kinase 8 Kinase 0.41 0.597 0.654
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CKAP4 Q07065 cytoskeleton associated protein 4 0.51 0.436 0.731
CLIC2 O15247 chloride intracellular channel 2 Ion channel 5.0E-02 0.700 0.500
CNTN4 Q8IWV2 contactin 4 Receptor 3.3E-06 0.653 0.577
COG6 Q9Y2V7 component of oligomeric golgi complex 6 6.4E-16 0.644 0.577
COLEC11 Q9BWP8 collectin subfamily member 11 Surfactant 1.8E-02 0.641 0.654
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSNK2A1 P68400 casein kinase 2 alpha 1 Kinase 0.99 0.597 0.731
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808
DOCK3 Q8IZD9 dedicator of cytokinesis 3 1.00 0.619 0.692
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
EIF2B2 P49770 eukaryotic translation initiation factor 2B subunit beta 2.1E-10 0.647 0.538
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC3 P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 3.4E-11 0.504 0.846
ESCO2 Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 3.2E-07 0.581 0.615
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808