Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692
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
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
WDR26 Q9H7D7 WD repeat domain 26 1.00 0.606 0.769