Disease: Short metacarpal
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BGN P21810 biglycan 0.45 0.484 0.808
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
CHSY1 Q86X52 chondroitin sulfate synthase 1 Enzyme 0.71 0.612 0.615
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
CWC27 Q6UX04 CWC27 spliceosome associated cyclophilin Enzyme 4.6E-07 0.722 0.346
DONSON Q9NYP3 downstream neighbor of SON 1.3E-07 0.636 0.538
DYM Q7RTS9 dymeclin 3.6E-13 0.563 0.769
EXT1 Q16394 exostosin glycosyltransferase 1 Enzyme 1.00 0.522 0.769
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
FLNA P21333 filamin A 1.00 0.419 0.846
FLNB O75369 filamin B 6.1E-10 0.458 0.923
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 0.692
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GPX4 P36969 glutathione peroxidase 4 Enzyme 4.8E-05 0.516 0.808
HDAC4 P56524 histone deacetylase 4 Epigenetic regulator 1.00 0.484 0.885
HOXD13 P35453 homeobox D13 8.6E-03 0.483 0.808
IFT52 Q9Y366 intraflagellar transport 52 2.0E-06 0.653 0.538
IFT80 Q9P2H3 intraflagellar transport 80 1.4E-19 0.575 0.692
IHH Q14623 Indian hedgehog signaling molecule 0.31 0.573 0.538
IMPAD1 Q9NX62 inositol monophosphatase domain containing 1 Enzyme 1.5E-02 0.700 0.385
KCNJ2 P63252 potassium inwardly rectifying channel subfamily J member 2 Ion channel 0.31 0.572 0.731