Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
HADHA P40939 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Enzyme 4.4E-06 0.569 0.769
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423
NEB P20929 nebulin 4.6E-41 0.608 0.692
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769