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
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
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
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
POLD1 P28340 DNA polymerase delta 1, catalytic subunit 2.4E-06 0.507 0.769
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
RAB23 Q9ULC3 RAB23, member RAS oncogene family 5.6E-03 0.541 0.654
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
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
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