Disease: Short nose
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
ALDH6A1 Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 7.6E-10 0.716 0.462
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
CEP57 Q86XR8 centrosomal protein 57 7.3E-02 0.615 0.615
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
DIS3L2 Q8IYB7 DIS3 like 3'-5' exoribonuclease 2 0.94 0.647 0.500
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
ELN P15502 elastin 2.1E-14 0.415 0.885
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
FLI1 Q01543 Fli-1 proto-oncogene, ETS transcription factor Transcription factor 0.99 0.468 0.692
GATA4 P43694 GATA binding protein 4 0.49 0.458 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769