Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
IGF2 P01344 insulin like growth factor 2 4.4E-02 0.390 0.885
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
PTCH1 Q13635 patched 1 1.00 0.398 0.885
CD38 P28907 CD38 molecule Enzyme 2.3E-06 0.407 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 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
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
PRRT2 Q7Z6L0 proline rich transmembrane protein 2 0.58 0.448 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808