Disease: Congenital small ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
DHODH Q02127 dihydroorotate dehydrogenase (quinone) Enzyme 3.0E-03 0.576 0.769
EVC P57679 EvC ciliary complex subunit 1 3.5E-25 0.587 0.577
EVC2 Q86UK5 EvC ciliary complex subunit 2 1.0E-34 0.585 0.692
FBXO11 Q86XK2 F-box protein 11 Enzyme 1.00 0.604 0.692
FGF10 O15520 fibroblast growth factor 10 Signaling 0.94 0.530 0.692
FGF3 P11487 fibroblast growth factor 3 Signaling 9.3E-05 0.505 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
FRAS1 Q86XX4 Fraser extracellular matrix complex subunit 1 3.1E-45 0.560 0.577
FREM2 Q5SZK8 FRAS1 related extracellular matrix 2 3.6E-11 0.566 0.577
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
GRIP1 Q9Y3R0 glutamate receptor interacting protein 1 0.51 0.581 0.769
INTU Q9ULD6 inturned planar cell polarity protein 7.7E-10 0.555 0.769
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MSX2 P35548 msh homeobox 2 Transcription factor 0.26 0.539 0.769
NELFA Q9H3P2 negative elongation factor complex member A 0.13 0.619 0.615
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769
POLR1C O15160 RNA polymerase I and III subunit C Enzyme 6.3E-10 0.595 0.615