Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTC1 P68032 actin alpha cardiac muscle 1 Cellular structure 0.74 0.610 0.538
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
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
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
HADHA P40939 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Enzyme 4.4E-06 0.569 0.769
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846