Disease: Short nose
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ADAMTSL2 Q86TH1 ADAMTS like 2 Enzyme 1.6E-03 0.666 0.346
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
ELN P15502 elastin 2.1E-14 0.415 0.885
ERGIC1 Q969X5 endoplasmic reticulum-golgi intermediate compartment 1 0.65 0.700 0.423
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
FLNA P21333 filamin A 1.00 0.419 0.846
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
GTPBP2 Q9BX10 GTP binding protein 2 Enzyme 0.32 0.736 0.423
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
INPPL1 O15357 inositol polyphosphate phosphatase like 1 2.3E-03 0.590 0.769
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
LTBP3 Q9NS15 latent transforming growth factor beta binding protein 3 Calcium-binding protein 0.69 0.564 0.846
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846