Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CECR cat eye syndrome chromosome region 0.599 0.731
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
ZC4H2 Q9NQZ6 zinc finger C4H2-type containing 0.91 0.561 0.731
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
GRHL3 Q8TE85 grainyhead like transcription factor 3 Transcription factor 0.99 0.572 0.692