Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
NEB P20929 nebulin 4.6E-41 0.608 0.692
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NFIA Q12857 nuclear factor I A Nucleic acid binding 1.00 0.599 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808