Disease: Disproportionate short-trunk short stature
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
DLL3 Q9NYJ7 delta like canonical Notch ligand 3 5.4E-05 0.552 0.654
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
TRAPPC2 P0DI81 P0DI82 trafficking protein particle complex 2 Transcription factor 2.4E-03 0.722 0.308
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808