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
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
NRP2 O60462 neuropilin 2 8.1E-04 0.539 0.615
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
GLI2 P10070 GLI family zinc finger 2 0.97 0.446 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
BMP7 P18075 bone morphogenetic protein 7 Signaling 0.13 0.498 0.769
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769