Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 100529211
Gene Symbol: TMEM256-PLSCR3
TMEM256-PLSCR3
TMEM256-PLSCR3 readthrough (NMD candidate) 10 0.861 0.154 5.9E-03 0.100 None 0 1
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 27 0.644 0.538 1.7E-12 0.100 None 0 1
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 31 0.555 0.731 1.1E-44 0.100 None 0 3
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 30 0.457 0.808 2.2E-16 0.100 None 0 1
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 15 0.532 0.692 1.7E-27 0.100 None 0 2
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 20 0.579 0.731 1.5E-15 0.100 None 0 1
Entrez Id: 4750
Gene Symbol: NEK1
NEK1
Q96PY6 NIMA related kinase 1 Kinase 14 0.575 0.769 1.9E-25 0.100 None 0 1
Entrez Id: 254863
Gene Symbol: TMEM256
TMEM256
Q8N2U0 transmembrane protein 256 Enzyme 10 0.861 0.154 6.1E-04 0.100 None 0 1
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
Q9UPW5 ATP/GTP binding protein 1 Enzyme 25 0.650 0.538 0.42 0.100 None 0 2
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
P22607 fibroblast growth factor receptor 3 Kinase 60 0.391 0.846 1.6E-05 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
Q8NB90 spermatogenesis associated 5 54 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 147965
Gene Symbol: FAM98C
FAM98C
Q17RN3 family with sequence similarity 98 member C 7 0.931 0.115 1.1E-07 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 78 0.444 0.846 1.00 0.100 None 0 1
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 54 0.430 0.808 1.00 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
Q9BVV6 KIAA0586 32 0.565 0.731 5.1E-16 0.100 None 0 1