Disease: Congenital Epicanthus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TAF1 P21675 TATA-box binding protein associated factor 1 Kinase 1.00 0.581 0.808
RPL10 P27635 ribosomal protein L10 Nucleic acid binding 0.91 0.568 0.731
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885
GTF2E2 P29084 general transcription factor IIE subunit 2 Transcription factor 3.9E-02 0.617 0.692
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
MAP2K2 P36507 mitogen-activated protein kinase kinase 2 Kinase 0.97 0.534 0.731
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
KIF11 P52732 kinesin family member 11 Cellular structure 1.00 0.560 0.769
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
SIM1 P81133 SIM bHLH transcription factor 1 Transcription factor 1.00 0.626 0.654
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
UBE3A Q05086 ubiquitin protein ligase E3A 1.00 0.561 0.692
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846