Disease: Congenital Epicanthus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADAMTS3 O15072 ADAM metallopeptidase with thrombospondin type 1 motif 3 Enzyme 1.0E-10 0.581 0.808
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
B4GALT7 Q9UBV7 beta-1,4-galactosyltransferase 7 1.1E-04 0.628 0.654
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CCBE1 Q6UXH8 collagen and calcium binding EGF domains 1 Calcium-binding protein 1.5E-07 0.585 0.769
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731
DHCR24 Q15392 24-dehydrocholesterol reductase Enzyme 3.1E-02 0.498 0.769
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FLNA P21333 filamin A 1.00 0.419 0.846
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 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