Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SH3PXD2B A1X283 SH3 and PX domains 2B 4.2E-03 0.631 0.577
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
GPC4 O75487 glypican 4 0.93 0.547 0.769
ZMPSTE24 O75844 zinc metallopeptidase STE24 Enzyme 8.9E-16 0.517 0.731
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
ALX3 O95076 ALX homeobox 3 1.9E-02 0.578 0.692
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
LMNA P02545 lamin A/C 1.00 0.384 0.885
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 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
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
EDNRA P25101 endothelin receptor type A G-protein coupled receptor 0.99 0.426 0.885
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
EIF4A3 P38919 eukaryotic translation initiation factor 4A3 1.00 0.608 0.500
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846
MASP1 P48740 mannan binding lectin serine peptidase 1 Enzyme 1.2E-11 0.565 0.885
SLC26A2 P50443 solute carrier family 26 member 2 Transporter 7.5E-07 0.553 0.692
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923