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
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
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
CHUK O15111 component of inhibitor of nuclear factor kappa B kinase complex Kinase 0.99 0.556 0.731
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
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
PKD2 Q13563 polycystin 2, transient receptor potential cation channel Ion channel 1.7E-04 0.552 0.731
POLD1 P28340 DNA polymerase delta 1, catalytic subunit 2.4E-06 0.507 0.769
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923