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
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
NADSYN1 Q6IA69 NAD synthetase 1 1.3E-16 0.780 0.231
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769
LEFTY2 O00292 left-right determination factor 2 Signaling 2.9E-04 0.736 0.231
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
ACVR1 Q04771 activin A receptor type 1 Kinase 0.33 0.535 0.731
THRA P10827 thyroid hormone receptor alpha Nuclear receptor 0.33 0.566 0.769
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
ACTC1 P68032 actin alpha cardiac muscle 1 Cellular structure 0.74 0.610 0.538
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654
NODAL Q96S42 nodal growth differentiation factor Signaling 0.97 0.588 0.731
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
NR2F2 P24468 nuclear receptor subfamily 2 group F member 2 Nuclear receptor 0.99 0.575 0.692
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808