Disease: Congenital Epicanthus
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WHCR Wolf-Hirschhorn syndrome chromosome region 0.638 0.577
PEX12 O00623 peroxisomal biogenesis factor 12 Transporter 9.5E-16 0.601 0.615
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
CPLX1 O14810 complexin 1 0.82 0.576 0.654
RNF113A O15541 ring finger protein 113A Enzyme 0.89 0.597 0.769
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
BUB1 O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 4.9E-09 0.528 0.731
BUB3 O43684 BUB3 mitotic checkpoint protein Nucleic acid binding 0.81 0.588 0.615
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
PEX10 O60683 peroxisomal biogenesis factor 10 5.4E-04 0.584 0.654
PEX14 O75381 peroxisomal biogenesis factor 14 Receptor 0.23 0.592 0.692
TRIO O75962 trio Rho guanine nucleotide exchange factor Kinase 1.00 0.556 0.731
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
PEX11B O96011 peroxisomal biogenesis factor 11 beta 1.3E-04 0.612 0.654
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846