Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DOCK1 Q14185 dedicator of cytokinesis 1 6.8E-03 0.641 0.577
PIK3R2 O00459 phosphoinositide-3-kinase regulatory subunit 2 Enzyme modulator 1.6E-02 0.551 0.808
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
ACVR1 Q04771 activin A receptor type 1 Kinase 0.33 0.535 0.731
THRA P10827 thyroid hormone receptor alpha Nuclear receptor 0.33 0.566 0.769
ALX4 Q9H161 ALX homeobox 4 0.36 0.560 0.692
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
TWIST2 Q8WVJ9 twist family bHLH transcription factor 2 Transcription factor 0.56 0.518 0.731
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731
PAX2 Q02962 paired box 2 0.67 0.495 0.731
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808