| Gene | Gene Full Name | DSI g | DPI g | pLI | Disease | Type | Score gda | EL gda | EI gda | N. PMIDs | N. SNPs gda | First Ref. | Last Ref. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
TMEM256-PLSCR3 readthrough (NMD candidate) | 0.861 | 0.154 | 5.9E-03 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
Bardet-Biedl syndrome 10 | 0.644 | 0.538 | 1.7E-12 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
dynein cytoplasmic 2 heavy chain 1 | 0.555 | 0.731 | 1.1E-44 |
|
phenotype | 0.100 | None | 0 | 3 | |||||||||||
|
transient receptor potential cation channel subfamily V member 4 | 0.457 | 0.808 | 2.2E-16 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
coiled-coil and C2 domain containing 2A | 0.532 | 0.692 | 1.7E-27 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | 0.579 | 0.731 | 1.5E-15 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
NIMA related kinase 1 | 0.575 | 0.769 | 1.9E-25 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
transmembrane protein 256 | 0.861 | 0.154 | 6.1E-04 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
ATP/GTP binding protein 1 | 0.650 | 0.538 | 0.42 |
|
phenotype | 0.100 | None | 0 | 2 | |||||||||||
|
fibroblast growth factor receptor 3 | 0.391 | 0.846 | 1.6E-05 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
spermatogenesis associated 5 | 0.670 | 0.654 | 9.1E-20 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
family with sequence similarity 98 member C | 0.931 | 0.115 | 1.1E-07 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type II alpha 1 chain | 0.444 | 0.846 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
collagen type I alpha 1 chain | 0.430 | 0.808 | 1.00 |
|
phenotype | 0.100 | None | 0 | 1 | |||||||||||
|
KIAA0586 | 0.565 | 0.731 | 5.1E-16 |
|
phenotype | 0.100 | None | 0 | 1 |