Disease: Delayed speech and language development
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
DCPS Q96C86 decapping enzyme, scavenger Enzyme 2.5E-07 0.612 0.538
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
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
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
EXOSC2 Q13868 exosome component 2 Enzyme 2.9E-06 0.711 0.462
FBXO11 Q86XK2 F-box protein 11 Enzyme 1.00 0.604 0.692
FBXO31 Q5XUX0 F-box protein 31 0.44 0.653 0.423
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
GORAB Q5T7V8 golgin, RAB6 interacting 6.7E-06 0.647 0.538
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
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