Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
HADHA P40939 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Enzyme 4.4E-06 0.569 0.769
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769
ZNF335 Q9H4Z2 zinc finger protein 335 Transcription factor 6.9E-07 0.711 0.462