Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SOX2-OT SOX2 overlapping transcript 0.597 0.615
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
PLCB4 Q15147 phospholipase C beta 4 Enzyme 3.0E-06 0.610 0.731
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
LEFTY2 O00292 left-right determination factor 2 Signaling 2.9E-04 0.736 0.231
NRP2 O60462 neuropilin 2 8.1E-04 0.539 0.615
VRK1 Q99986 VRK serine/threonine kinase 1 Kinase 2.1E-03 0.621 0.615
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
PIK3R2 O00459 phosphoinositide-3-kinase regulatory subunit 2 Enzyme modulator 1.6E-02 0.551 0.808
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
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
ALX4 Q9H161 ALX homeobox 4 0.36 0.560 0.692
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
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808