Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
XYLT2 Q9H1B5 xylosyltransferase 2 0.93 0.566 0.808
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
TRIO O75962 trio Rho guanine nucleotide exchange factor Kinase 1.00 0.556 0.731
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
THRA P10827 thyroid hormone receptor alpha Nuclear receptor 0.33 0.566 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
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692
PKD2 Q13563 polycystin 2, transient receptor potential cation channel Ion channel 1.7E-04 0.552 0.731
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
NR2F2 P24468 nuclear receptor subfamily 2 group F member 2 Nuclear receptor 0.99 0.575 0.692
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
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885