Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
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
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
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
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EED O75530 embryonic ectoderm development 1.00 0.588 0.615
ELN P15502 elastin 2.1E-14 0.415 0.885
ELP4 Q96EB1 elongator acetyltransferase complex subunit 4 1.2E-07 0.666 0.462
FGF14 Q92915 fibroblast growth factor 14 Signaling 0.91 0.619 0.692
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GATA6 Q92908 GATA binding protein 6 1.00 0.478 0.808
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
HERC1 Q15751 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 Enzyme modulator 1.00 0.674 0.500