Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
DLL4 Q9NR61 delta like canonical Notch ligand 4 1.00 0.494 0.769
ETV6 P41212 ETS variant transcription factor 6 Transcription factor 0.97 0.477 0.731
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
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
RBPJ Q06330 recombination signal binding protein for immunoglobulin kappa J region Nucleic acid binding 1.00 0.518 0.808
SAMD9 Q5K651 sterile alpha motif domain containing 9 1.1E-33 0.606 0.808
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
VWF P04275 von Willebrand factor Enzyme modulator 3.2E-25 0.408 0.885
XYLT2 Q9H1B5 xylosyltransferase 2 0.93 0.566 0.808
ZC4H2 Q9NQZ6 zinc finger C4H2-type containing 0.91 0.561 0.731