Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRF1 Q92994 BRF1 RNA polymerase III transcription initiation factor subunit Transcription factor 1.0E-04 0.700 0.462
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CENPJ Q9HC77 centromere protein J Enzyme 2.1E-27 0.546 0.846
CHD3 Q12873 chromodomain helicase DNA binding protein 3 1.00 0.670 0.577
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
DPF2 Q92785 double PHD fingers 2 Enzyme 1.00 0.604 0.731
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846