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
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BCL11A Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 0.97 0.541 0.769
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
CUL3 Q13618 cullin 3 1.00 0.592 0.654
DOCK3 Q8IZD9 dedicator of cytokinesis 3 1.00 0.619 0.692
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
HTT P42858 huntingtin 1.00 0.548 0.654
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
MAST1 Q9Y2H9 microtubule associated serine/threonine kinase 1 Kinase 1.00 0.711 0.385
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385
NFIA Q12857 nuclear factor I A Nucleic acid binding 1.00 0.599 0.808
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808