Disease: Delayed speech and language development
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
DLG3 Q92796 discs large MAGUK scaffold protein 3 1.00 0.544 0.615
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
FMN2 Q9NZ56 formin 2 1.00 0.610 0.538
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
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