Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
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
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
NMNAT2 Q9BZQ4 nicotinamide nucleotide adenylyltransferase 2 Enzyme 0.99 0.670 0.500
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692