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
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PAX2 Q02962 paired box 2 0.67 0.495 0.731
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NADSYN1 Q6IA69 NAD synthetase 1 1.3E-16 0.780 0.231
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731
HIVEP2 P31629 HIVEP zinc finger 2 1.00 0.711 0.500
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577