Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GTPBP2 Q9BX10 GTP binding protein 2 Enzyme 0.32 0.736 0.423
HS6ST2 Q96MM7 heparan sulfate 6-O-sulfotransferase 2 Enzyme 1.0E-03 0.729 0.423
VARS1 P26640 valyl-tRNA synthetase 1 1.8E-08 0.711 0.500
EXOSC2 Q13868 exosome component 2 Enzyme 2.9E-06 0.711 0.462
CAMK2G Q13555 calcium/calmodulin dependent protein kinase II gamma Kinase 1.00 0.670 0.462
PLOD3 O60568 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 Enzyme 6.1E-13 0.659 0.385
IFT52 Q9Y366 intraflagellar transport 52 2.0E-06 0.653 0.538
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
EFL1 Q7Z2Z2 elongation factor like GTPase 1 Enzyme 5.1E-08 0.638 0.577
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
SIM1 P81133 SIM bHLH transcription factor 1 Transcription factor 1.00 0.626 0.654
MAF O75444 MAF bZIP transcription factor Transcription factor 0.74 0.623 0.769
IRX5 P78411 iroquois homeobox 5 Transcription factor 0.97 0.623 0.846
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
SLC12A6 Q9UHW9 solute carrier family 12 member 6 Transporter 1.1E-02 0.603 0.500
PACS1 Q6VY07 phosphofurin acidic cluster sorting protein 1 1.00 0.603 0.615
NFIA Q12857 nuclear factor I A Nucleic acid binding 1.00 0.599 0.808
RBM10 P98175 RNA binding motif protein 10 1.00 0.599 0.615
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500