Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 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
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FBXL4 Q9UKA2 F-box and leucine rich repeat protein 4 1.1E-08 0.695 0.423
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GH1 P01241 growth hormone 1 Signaling 3.0E-02 0.373 0.923
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769