Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FLG-AS1 FLG antisense RNA 1 0.700 0.538
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
MEIS2 O14770 Meis homeobox 2 Enzyme 1.00 0.601 0.808
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
SHOX O15266 short stature homeobox 0.67 0.561 0.654
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
PCNT O95613 pericentrin 4.0E-58 0.564 0.808
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885
HPRT1 P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 0.94 0.500 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
GH1 P01241 growth hormone 1 Signaling 3.0E-02 0.373 0.923
IGF2 P01344 insulin like growth factor 2 4.4E-02 0.390 0.885
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808