Disease: Congenital Epicanthus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ADAT3 Q96EY9 adenosine deaminase tRNA specific 3 5.6E-03 0.736 0.385
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
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CHD3 Q12873 chromodomain helicase DNA binding protein 3 1.00 0.670 0.577
COG6 Q9Y2V7 component of oligomeric golgi complex 6 6.4E-16 0.644 0.577
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
DPF2 Q92785 double PHD fingers 2 Enzyme 1.00 0.604 0.731
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
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692