Disease: Congenital small ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATR Q13535 ATR serine/threonine kinase Kinase 3.5E-09 0.456 0.923
RPS19 P39019 ribosomal protein S19 Nucleic acid binding 0.92 0.480 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
SIX1 Q15475 SIX homeobox 1 Transcription factor 0.65 0.496 0.692
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
EYA1 Q99502 EYA transcriptional coactivator and phosphatase 1 0.95 0.531 0.731
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808
CENPJ Q9HC77 centromere protein J Enzyme 2.1E-27 0.546 0.846
TCOF1 Q13428 treacle ribosome biogenesis factor 1 0.95 0.550 0.808
CDC6 Q99741 cell division cycle 6 1.1E-09 0.552 0.731
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
INTU Q9ULD6 inturned planar cell polarity protein 7.7E-10 0.555 0.769
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
RSPO2 Q6UXX9 R-spondin 2 2.5E-02 0.558 0.577
PCNT O95613 pericentrin 4.0E-58 0.564 0.808
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
SF3B4 Q15427 splicing factor 3b subunit 4 0.99 0.576 0.615
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
CDC45 O75419 cell division cycle 45 Nucleic acid binding 4.6E-05 0.588 0.692
ORC1 Q13415 origin recognition complex subunit 1 Nucleic acid binding 1.7E-14 0.595 0.654
POLR1C O15160 RNA polymerase I and III subunit C Enzyme 6.3E-10 0.595 0.615