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
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
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
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
GUCY2D Q02846 guanylate cyclase 2D, retinal Kinase 6.5E-10 0.570 0.769
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885