Disease: Delayed speech and language development
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACAD8 Q9UKU7 acyl-CoA dehydrogenase family member 8 Enzyme 5.6E-14 0.506 0.885
ACADS P16219 acyl-CoA dehydrogenase short chain 2.8E-06 0.663 0.538
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
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
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CRAT P43155 carnitine O-acetyltransferase Enzyme 9.5E-12 0.656 0.577
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
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
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692