Disease: Short foot
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
HDAC4 P56524 histone deacetylase 4 Epigenetic regulator 1.00 0.484 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
PRDM16 Q9HAZ2 PR/SET domain 16 1.00 0.522 0.808
TBL1XR1 Q9BZK7 TBL1X receptor 1 1.00 0.534 0.808
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
MAP3K7 O43318 mitogen-activated protein kinase kinase kinase 7 Kinase 1.00 0.477 0.808
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731
CAMK2G Q13555 calcium/calmodulin dependent protein kinase II gamma Kinase 1.00 0.670 0.462
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808
BMPR1B O00238 bone morphogenetic protein receptor type 1B Kinase 1.00 0.573 0.615
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
GPC4 O75487 glypican 4 0.93 0.547 0.769
NOG Q13253 noggin 0.89 0.518 0.731