Disease: Microcephaly (physical finding)
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ATP2B3 Q16720 ATPase plasma membrane Ca2+ transporting 3 Transporter 1.00 0.631 0.692
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRF1 Q92994 BRF1 RNA polymerase III transcription initiation factor subunit Transcription factor 1.0E-04 0.700 0.462
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231
CINP Q9BW66 cyclin dependent kinase 2 interacting protein 5.7E-02 0.821 0.231
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
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
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
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
FLG-AS1 FLG antisense RNA 1 0.700 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
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846