Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CPT2 P23786 carnitine palmitoyltransferase 2 Enzyme 4.6E-10 0.542 0.769
CTSK P43235 cathepsin K Enzyme 3.1E-05 0.497 0.808
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
ELN P15502 elastin 2.1E-14 0.415 0.885
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FLI1 Q01543 Fli-1 proto-oncogene, ETS transcription factor Transcription factor 0.99 0.468 0.692
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731