Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
UBE3B Q7Z3V4 ubiquitin protein ligase E3B 4.2E-08 0.590 0.692
RAB3GAP1 Q15042 RAB3 GTPase activating protein catalytic subunit 1 1.5E-07 0.566 0.692
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
NODAL Q96S42 nodal growth differentiation factor Signaling 0.97 0.588 0.731
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
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
RAB3GAP2 Q9H2M9 RAB3 GTPase activating non-catalytic protein subunit 2 Enzyme modulator 0.99 0.584 0.769
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769