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
ACVR1 Q04771 activin A receptor type 1 Kinase 0.33 0.535 0.731
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
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
CHUK O15111 component of inhibitor of nuclear factor kappa B kinase complex Kinase 0.99 0.556 0.731
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
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
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769
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
ETV6 P41212 ETS variant transcription factor 6 Transcription factor 0.97 0.477 0.731
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
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