Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ANOS1 P23352 anosmin 1 1.00 0.537 0.769
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
FKBP10 Q96AY3 FKBP prolyl isomerase 10 2.4E-06 0.606 0.538
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808