Disease: Congenital Epicanthus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALG3 Q92685 ALG3 alpha-1,3- mannosyltransferase Enzyme 3.7E-10 0.644 0.500
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHRNA7 P36544 Q494W8 cholinergic receptor nicotinic alpha 7 subunit Ion channel 4.2E-04 0.532 0.654
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
DPF2 Q92785 double PHD fingers 2 Enzyme 1.00 0.604 0.731
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
ELN P15502 elastin 2.1E-14 0.415 0.885
EZH2 Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 1.00 0.376 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FIBP O43427 FGF1 intracellular binding protein 4.4E-06 0.674 0.538
FLNA P21333 filamin A 1.00 0.419 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769
HECW2 Q9P2P5 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Enzyme 1.00 0.705 0.423
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
KDM6B O15054 lysine demethylase 6B Epigenetic regulator 1.00 0.514 0.808
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923