Disease: Congenital Epicanthus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
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
PTCH1 Q13635 patched 1 1.00 0.398 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
FLNA P21333 filamin A 1.00 0.419 0.846
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
KDM6B O15054 lysine demethylase 6B Epigenetic regulator 1.00 0.514 0.808
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
CHRNA7 P36544 Q494W8 cholinergic receptor nicotinic alpha 7 subunit Ion channel 4.2E-04 0.532 0.654