Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PLCB4 Q15147 phospholipase C beta 4 Enzyme 3.0E-06 0.610 0.731
RBM10 P98175 RNA binding motif protein 10 1.00 0.599 0.615
SF3B4 Q15427 splicing factor 3b subunit 4 0.99 0.576 0.615
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769
TWIST2 Q8WVJ9 twist family bHLH transcription factor 2 Transcription factor 0.56 0.518 0.731