Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 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
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
PAX2 Q02962 paired box 2 0.67 0.495 0.731
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885