Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
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
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 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
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
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
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PHF6 Q8IWS0 PHD finger protein 6 Nucleic acid binding 1.00 0.581 0.692
PAX2 Q02962 paired box 2 0.67 0.495 0.731
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
ETV6 P41212 ETS variant transcription factor 6 Transcription factor 0.97 0.477 0.731
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846