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
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
B4GALT7 Q9UBV7 beta-1,4-galactosyltransferase 7 1.1E-04 0.628 0.654
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
DYNC2LI1 Q8TCX1 dynein cytoplasmic 2 light intermediate chain 1 Cellular structure 3.2E-09 0.601 0.500
EBP Q15125 EBP cholestenol delta-isomerase Enzyme 0.94 0.494 0.846
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
EIF2AK3 Q9NZJ5 eukaryotic translation initiation factor 2 alpha kinase 3 Kinase 2.8E-03 0.501 0.808
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
FZD2 Q14332 frizzled class receptor 2 G-protein coupled receptor 0.65 0.558 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
IFT80 Q9P2H3 intraflagellar transport 80 1.4E-19 0.575 0.692