Disease: Congenital small ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
POLR1C O15160 RNA polymerase I and III subunit C Enzyme 6.3E-10 0.595 0.615
ORC4 O43929 origin recognition complex subunit 4 Nucleic acid binding 7.6E-13 0.612 0.654
CDC45 O75419 cell division cycle 45 Nucleic acid binding 4.6E-05 0.588 0.692
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
POLR1A O95602 RNA polymerase I subunit A Enzyme 1.00 0.682 0.538
PCNT O95613 pericentrin 4.0E-58 0.564 0.808
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
POLR1D P0DPB5 P0DPB6 RNA polymerase I and III subunit D Enzyme 0.36 0.603 0.692
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
RPS19 P39019 ribosomal protein S19 Nucleic acid binding 0.92 0.480 0.846
ORC1 Q13415 origin recognition complex subunit 1 Nucleic acid binding 1.7E-14 0.595 0.654
TCOF1 Q13428 treacle ribosome biogenesis factor 1 0.95 0.550 0.808
ATR Q13535 ATR serine/threonine kinase Kinase 3.5E-09 0.456 0.923
SF3B4 Q15427 splicing factor 3b subunit 4 0.99 0.576 0.615
SIX1 Q15475 SIX homeobox 1 Transcription factor 0.65 0.496 0.692
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
RSPO2 Q6UXX9 R-spondin 2 2.5E-02 0.558 0.577
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
SIX5 Q8N196 SIX homeobox 5 Transcription factor 6.9E-03 0.666 0.500
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
EYA1 Q99502 EYA transcriptional coactivator and phosphatase 1 0.95 0.531 0.731