Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
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
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
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
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 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
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NR2F2 P24468 nuclear receptor subfamily 2 group F member 2 Nuclear receptor 0.99 0.575 0.692
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923