Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
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
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
CD38 P28907 CD38 molecule Enzyme 2.3E-06 0.407 0.885
CASR P41180 calcium sensing receptor G-protein coupled receptor 4.7E-02 0.410 0.846
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
G6PD P11413 glucose-6-phosphate dehydrogenase Enzyme 0.97 0.424 0.846
RUNX1 Q01196 RUNX family transcription factor 1 Transcription factor 0.65 0.425 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885