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
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769
ETV6 P41212 ETS variant transcription factor 6 Transcription factor 0.97 0.477 0.731
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
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
GPD1 P21695 glycerol-3-phosphate dehydrogenase 1 Enzyme 5.6E-03 0.670 0.500
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
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
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PTRH2 Q9Y3E5 peptidyl-tRNA hydrolase 2 6.4E-04 0.641 0.577
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808