Disease: Absent speech
Source: INFERRED ×
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
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
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
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
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
ISCA2 Q86U28 iron-sulfur cluster assembly 2 2.4E-08 0.743 0.231
MDH2 P40926 malate dehydrogenase 2 Enzyme 6.7E-03 0.595 0.731
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
SLC6A3 Q01959 solute carrier family 6 member 3 Transporter 1.00 0.453 0.885
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
TIMM50 Q3ZCQ8 translocase of inner mitochondrial membrane 50 1.8E-03 0.678 0.500