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
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COQ4 Q9Y3A0 coenzyme Q4 3.4E-09 0.780 0.269
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
NDUFAF2 Q8N183 NADH:ubiquinone oxidoreductase complex assembly factor 2 2.1E-06 0.641 0.577
NEB P20929 nebulin 4.6E-41 0.608 0.692
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808