Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
NEK1 Q96PY6 NIMA related kinase 1 Kinase 1.9E-25 0.575 0.769
TMEM256-PLSCR3 TMEM256-PLSCR3 readthrough (NMD candidate) 5.9E-03 0.861 0.154
TMEM256 Q8N2U0 transmembrane protein 256 Enzyme 6.1E-04 0.861 0.154
FAM98C Q17RN3 family with sequence similarity 98 member C 1.1E-07 0.931 0.115