Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
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
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CLASP1 Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 1.00 0.751 0.500
COG7 P83436 component of oligomeric golgi complex 7 2.6E-07 0.686 0.500
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538