Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
SAMD9 Q5K651 sterile alpha motif domain containing 9 1.1E-33 0.606 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
WDR26 Q9H7D7 WD repeat domain 26 1.00 0.606 0.769
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808