Disease: Delayed speech and language development
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
EXOSC2 Q13868 exosome component 2 Enzyme 2.9E-06 0.711 0.462
FKTN O75072 fukutin 8.7E-07 0.511 0.692
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
GPAA1 O43292 glycosylphosphatidylinositol anchor attachment 1 5.5E-09 0.647 0.538
HACE1 Q8IYU2 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 Enzyme 6.1E-06 0.601 0.692
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692
HS6ST2 Q96MM7 heparan sulfate 6-O-sulfotransferase 2 Enzyme 1.0E-03 0.729 0.423
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
KDM5B Q9UGL1 lysine demethylase 5B Epigenetic regulator 7.9E-15 0.532 0.731
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808