Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KDM6B O15054 lysine demethylase 6B Epigenetic regulator 1.00 0.514 0.808
NGLY1 Q96IV0 N-glycanase 1 Enzyme 1.5E-13 0.601 0.654
OCA2 Q04671 OCA2 melanosomal transmembrane protein 2.9E-13 0.539 0.808
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
PTRH2 Q9Y3E5 peptidyl-tRNA hydrolase 2 6.4E-04 0.641 0.577
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
SON P18583 SON DNA binding protein 1.00 0.565 0.769
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808