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
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
PAX2 Q02962 paired box 2 0.67 0.495 0.731
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PKD2 Q13563 polycystin 2, transient receptor potential cation channel Ion channel 1.7E-04 0.552 0.731
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
THRA P10827 thyroid hormone receptor alpha Nuclear receptor 0.33 0.566 0.769
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
VPS33B Q9H267 VPS33B late endosome and lysosome associated Transporter 2.4E-16 0.644 0.654