Disease: Disproportionate short stature
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACP5 P13686 acid phosphatase 5, tartrate resistant 7.9E-02 0.561 0.731
ANKH Q9HCJ1 ANKH inorganic pyrophosphate transport regulator Transporter 0.28 0.606 0.692
B3GALT6 Q96L58 beta-1,3-galactosyltransferase 6 2.3E-02 0.631 0.615
CANT1 Q8WVQ1 calcium activated nucleotidase 1 2.5E-06 0.619 0.731
COL10A1 Q03692 collagen type X alpha 1 chain Extracellular structure 3.0E-05 0.619 0.500
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
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
COMP P49747 cartilage oligomeric matrix protein 1.3E-09 0.503 0.808
CUL7 Q14999 cullin 7 2.6E-21 0.633 0.500
DYM Q7RTS9 dymeclin 3.6E-13 0.563 0.769
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
EIF2AK3 Q9NZJ5 eukaryotic translation initiation factor 2 alpha kinase 3 Kinase 2.8E-03 0.501 0.808
EXT1 Q16394 exostosin glycosyltransferase 1 Enzyme 1.00 0.522 0.769
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
GPC6 Q9Y625 glypican 6 0.14 0.626 0.654
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
IFT122 Q9HBG6 intraflagellar transport 122 2.4E-24 0.560 0.846
IFT140 Q96RY7 intraflagellar transport 140 Cellular structure 9.9E-24 0.572 0.692
IFT80 Q9P2H3 intraflagellar transport 80 1.4E-19 0.575 0.692
MMP13 P45452 matrix metallopeptidase 13 Enzyme 7.9E-18 0.452 0.923
OBSL1 O75147 obscurin like cytoskeletal adaptor 1 1.0E-25 0.686 0.308