Disease: Short foot
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADAMTSL2 Q86TH1 ADAMTS like 2 Enzyme 1.6E-03 0.666 0.346
BMPR1B O00238 bone morphogenetic protein receptor type 1B Kinase 1.00 0.573 0.615
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COMP P49747 cartilage oligomeric matrix protein 1.3E-09 0.503 0.808
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
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 0.692
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
KCNAB2 Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 0.80 0.593 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
LTBP3 Q9NS15 latent transforming growth factor beta binding protein 3 Calcium-binding protein 0.69 0.564 0.846
MAP3K7 O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 1.00 0.477 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NOG Q13253 noggin 0.89 0.518 0.731
PRDM16 Q9HAZ2 PR/SET domain 16 1.00 0.522 0.808
PTH1R Q03431 parathyroid hormone 1 receptor G-protein coupled receptor 0.57 0.544 0.731
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
SHOX O15266 short stature homeobox 0.67 0.561 0.654
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808