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
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
ACVR1 Q04771 activin A receptor type 1 Kinase 0.33 0.535 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
CHMP1A Q9HD42 charged multivesicular body protein 1A 2.9E-04 0.695 0.500
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 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
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
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
FKBP10 Q96AY3 FKBP prolyl isomerase 10 2.4E-06 0.606 0.538
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
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
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885