Disease: Congenital Epicanthus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
ADAMTS3 O15072 ADAM metallopeptidase with thrombospondin type 1 motif 3 Enzyme 1.0E-10 0.581 0.808
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
SON P18583 SON DNA binding protein 1.00 0.565 0.769
FLNA P21333 filamin A 1.00 0.419 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
RPL10 P27635 ribosomal protein L10 Nucleic acid binding 0.91 0.568 0.731
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769