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
TTN-AS1 TTN antisense RNA 1 0.599 0.577
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 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
FKBP10 Q96AY3 FKBP prolyl isomerase 10 2.4E-06 0.606 0.538
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577
RAB23 Q9ULC3 RAB23, member RAS oncogene family 5.6E-03 0.541 0.654
DOCK1 Q14185 dedicator of cytokinesis 1 6.8E-03 0.641 0.577
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
THRA P10827 thyroid hormone receptor alpha Nuclear receptor 0.33 0.566 0.769
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
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885