Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WDR26 Q9H7D7 WD repeat domain 26 1.00 0.606 0.769
VARS2 Q5ST30 valyl-tRNA synthetase 2, mitochondrial 5.8E-17 0.666 0.577
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
THOC6 Q86W42 THO complex 6 4.8E-04 0.705 0.577
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
SON P18583 SON DNA binding protein 1.00 0.565 0.769
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
PAFAH1B1 P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 1.00 0.504 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885